Developmental Disorder Genes

The Development Disorder Genotype - Phenotype Database (DDG2P) is a curated list of genes reported to be associated with developmental disorders, compiled by clinicians as part of the DDD study to facilitate clinical feedback of likely causal variants. The DDG2P is categorised into the level of certainty that the gene causes developmental disease (confirmed or probable), the consequence of a mutation (loss-of function, activating, etc) and the allelic status associated with disease (monoallelic, biallelic, etc).

The main sources of the information used to categorise the gene symbols are OMIM, UniProt and a systematic screen of Nature Genetics and American Journal of Human Genetics since 2005. The DDG2P has been recently initiated and is under continuing development, so at this stage it will inevitably contain omissions and other errors. The curators appreciate community involvement in improving the list and would be grateful for any feedback which can be provided using the email ddg2p-help@sanger.ac.uk.

Definitions of the terms used in the database

Download DDG2P database files Please note: This file is maintained by the European Bioinformatics Institute. Its contents may differ from the table below due to different update cycles.

Gene Status Mode Consequence Disease / Phenotype
AAAS Confirmed Biallelic Loss of function Achalasia-Addisonianism-Alacrima Syndrome
AARS Probable Biallelic Loss of function Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
AASS Probable Biallelic Loss of function Hyperlysinemia
ABCB11 Confirmed Biallelic Loss of function ABCB11-Related Intrahepatic Cholestasis
ABCB7 Confirmed Hemizygous All missense/in frame Anemia, Sideroblastic, with Ataxia
ABCC6 Confirmed Biallelic Loss of function Arterial Calcification, Generalized, of Infancy, 2
ABCC9 Confirmed Monoallelic Activating Cantu Syndrome Hypertrichotic Osteochondrodysplasia
ABCD1 Both DD and IF Hemizygous Loss of function Adrenoleukodystrophy, X-Linked
ABCD4 Probable Biallelic Loss of function Methylmalonic Aciduria and Homocystinuria, CBLJ Type
ABHD5 Confirmed Biallelic Loss of function Chanarin-Dorfman Syndrome
ABL1 Probable Monoallelic Activating Congenital Heart Defects and Skeletal Malformations
ACAD9 Confirmed Biallelic Loss of function Acyl-Coa Dehydrogenase Family Member Type 9 Deficiency
ACADM Confirmed Biallelic Loss of function Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
ACADS Both DD and IF Biallelic All missense/in frame Short Chain Acyl-Coa Dehydrogenase Deficiency
ACADVL Confirmed Biallelic Loss of function very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency
ACAN Confirmed Biallelic All missense/in frame Spondyloepimetaphyseal Dysplasia Aggrecan Type
ACAN Confirmed Monoallelic Loss of function Spondyloepiphyseal Dysplasia Type Kimberley
ACAT1 Confirmed Biallelic Loss of function Alpha-Methylacetoacetic Aciduria
ACO2 Probable Biallelic Loss of function Infantile Cerebellar-Retinal Degeneration
ACOX1 Confirmed Biallelic Loss of function Adrenoleukodystrophy Pseudoneonatal
ACP5 Confirmed Biallelic Loss of function Spondyloenchondrodysplasia with Immune Dysregulation
ACSL4 Probable Hemizygous Loss of function Alport Syndrome with Mental Retardation Midface Hypoplasia and Elliptocytosis
ACSL4 Probable Hemizygous Loss of function Mental Retardation X-Linked Type 63
ACTA1 Probable Biallelic All missense/in frame Nemaline Myopathy 3
ACTA2 Both DD and IF Monoallelic All missense/in frame Aortic Aneurysm, Familial Thoracic 6
ACTA2 Both DD and IF Monoallelic All missense/in frame Moyamoya Disease 5
ACTB Probable Monoallelic Loss of function Actb Haploinsufficiency Syndtome
ACTB Confirmed Monoallelic All missense/in frame Baraitser-Winter Syndrome
ACTG1 Confirmed Monoallelic All missense/in frame Baraitser-Winter Syndrome
ACVR1 Probable Monoallelic Activating Fibrodysplasia Ossificans Progressiva
ACY1 Confirmed Biallelic Loss of function Aminoacylase-1 Deficiency
ADA Confirmed Biallelic Loss of function Adenosine Deaminase Deficiency
ADAR Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome Associated with A Type I Interferon Signature
ADAR Confirmed Monoallelic Loss of function Aicardi-Goutieres Syndrome Associated with A Type I Interferon Signature
ADAR Confirmed Monoallelic Loss of function Dyschromatosis Symmetrica Hereditaria 1
ADCK3 Confirmed Biallelic Loss of function Coenzyme Q10 Deficiency
ADNP Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant, 28
ADSL Confirmed Biallelic All missense/in frame Adenylosuccinase Deficiency
AFF2 Confirmed Hemizygous Loss of function Fragile X-E Mental Retardation Syndrome
AFF3 Probable Monoallelic All missense/in frame Skeletal Dysplasia with Severe Neurological Disease
AFF4 Confirmed Monoallelic Activating Cornelia De Lange-Like Syndrome
AGA Confirmed Biallelic Loss of function Aspartylglucosaminuria
AGK Confirmed Biallelic Loss of function Sengers Syndrome
AGL Confirmed Biallelic Loss of function Glycogen Storage Disease Type III
AGPS Confirmed Biallelic Uncertain Rhizomelic Chondrodysplasia Punctata Type 3
AGXT Both DD and IF Biallelic Loss of function Hyperoxaluria, Primary, Type 1
AHDC1 Confirmed Monoallelic Loss of function Xia-Gibbs Syndrome
AHI1 Confirmed Biallelic Loss of function Joubert Syndrome
AIFM1 Probable Hemizygous All missense/in frame Combined Oxidative Phosphorylation Deficiency 6
AIFM1 Probable Hemizygous All missense/in frame Cowchock Syndrome
AIMP1 Probable Biallelic Loss of function Leukodystrophy, Hypomyelinating, 3
AIPL1 Confirmed Biallelic Loss of function Leber Congenital Amaurosis 4
AIRE Both DD and IF Biallelic Loss of function Autoimmune Polyendocrinopathy Syndrome Type 1
AK2 Confirmed Biallelic Loss of function Reticular Dysgenesis
AKR1D1 Confirmed Biallelic Loss of function Bile Acid Synthesis Defect, Congenital, 2
AKT1 Confirmed Mosaic Activating Proteus Syndrome
AKT3 Probable Mosaic All missense/in frame Hemimegalencephaly AKT3
ALAD Both DD and IF Biallelic All missense/in frame Acute Hepatic Porphyria
ALDH18A1 Confirmed Monoallelic Activating Cutis Laxa, Autosomal Dominant 3
ALDH18A1 Confirmed Biallelic Loss of function Mental Retardation-Joint Hypermobility-Skin Laxity with or without Metabolic Abnormalities
ALDH18A1 Confirmed Monoallelic Dominant negative Spastic Paraplegia 9, Autosomal Dominant
ALDH1A3 Confirmed Biallelic Loss of function Anophthalmia/Microphthalmia
ALDH3A2 Confirmed Biallelic Loss of function Sjoegren-Larsson Syndrome
ALDH4A1 Confirmed Biallelic Loss of function Hyperprolinemia Type 2
ALDH5A1 Confirmed Biallelic Loss of function Succinate Semialdehyde Dehydrogenase Deficiency
ALDH7A1 Confirmed Biallelic Loss of function Pyridoxine-Dependent Epilepsy
ALDOA Confirmed Biallelic All missense/in frame Glycogen Storage Disease XII
ALDOB Both DD and IF Biallelic Loss of function Hereditary Fructose Intolerance
ALG1 Confirmed Biallelic Loss of function ALG1-CDG
ALG11 Probable Biallelic Loss of function ALG11-CDG
ALG12 Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation Type 1G
ALG13 Probable Hemizygous All missense/in frame Congenital Disorder of Glycosylation, Type is
ALG13 Probable Hemizygous All missense/in frame Epileptic Encephalopathies
ALG13 Probable X-linked dominant All missense/in frame Epileptic Encephalopathies
ALG13 Probable Hemizygous All missense/in frame Epileptic Encephalopathy
ALG2 Probable Biallelic Loss of function ALG2-CDG
ALG3 Confirmed Biallelic Loss of function ALG3-CDG
ALG6 Confirmed Biallelic Loss of function ALG6-CDG
ALG8 Confirmed Biallelic Loss of function ALG8-CDG
ALG9 Probable Biallelic Loss of function ALG9-CDG
ALMS1 Confirmed Biallelic Loss of function Alstrom Syndrome
ALPL Confirmed Biallelic All missense/in frame Hypophosphatasia
ALS2 Confirmed Biallelic Loss of function ALS2-Related Disorders
ALX1 Confirmed Biallelic Loss of function Frontonasal Dysplasia Type 3
ALX3 Confirmed Biallelic Loss of function Frontonasal Dysplasia Type 1
ALX4 Confirmed Biallelic Loss of function Frontonasal Dysplasia 2
ALX4 Confirmed Monoallelic Loss of function Parietal Foramina 2
AMER1 Both DD and IF Monoallelic Loss of function Osteopathia Striata with Cranial Sclerosis
AMPD2 Confirmed Biallelic Loss of function Pontocerebellar Hypoplasia
AMT Confirmed Biallelic Loss of function Glycine Encephalopathy
ANKH Confirmed Monoallelic All missense/in frame Chondrocalcinosis 2
ANKH Confirmed Monoallelic Loss of function Craniometaphyseal Dysplasia Jackson Type
ANKRD11 Confirmed Monoallelic Loss of function KBG Syndrome
ANKRD26 Probable Monoallelic 5_prime or 3_prime UTR mutation Thrombocytopenia 2
ANO5 Both DD and IF Monoallelic Activating Gnathodiaphyseal Dysplasia
ANO5 Both DD and IF Biallelic Loss of function Miyoshi Muscular Dystrophy Type 3
ANTXR1 Confirmed Biallelic Loss of function Gapo Syndrome
AP1S2 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 59
AP3B2 Probable Biallelic Loss of function Epileptic Encephalopathy with Optic Atrophy
AP4B1 Probable Biallelic Loss of function Cerebral Palsy Spastic Quadriplegic Type 5
AP4E1 Confirmed Biallelic Loss of function Cerebral Palsy Spastic Quadriplegic Type 4
AP4M1 Probable Biallelic Loss of function Cerebral Palsy Spastic Quadriplegic Type 3
AP4S1 Probable Biallelic Loss of function Cerebral Palsy Spastic Quadriplegic Type 6
APOA1BP Probable Biallelic Loss of function Lethal Neurometabolic Disorder of Early Childhood
APOPT1 Confirmed Biallelic Loss of function Mitochondrial Complex IV Deficiency
APTX Confirmed Biallelic Loss of function Ataxia with Oculomotor Apraxia 1
AR Both DD and IF Hemizygous Loss of function Androgen Insensitivity Syndrome
AR Both DD and IF Hemizygous Dominant negative Spinal and Bulbar Muscular Atrophy
ARCN1 Probable Monoallelic Loss of function Microcephalic Dwarfism
ARFGEF2 Probable Biallelic Loss of function Periventricular Heterotopia with Microcephaly
ARG1 Confirmed Biallelic Loss of function Argininemia
ARHGAP31 Probable Monoallelic Loss of function Adams-Oliver Syndrome 1
ARID1A Confirmed Monoallelic Loss of function Coffin-Siris Syndrome
ARID1B Confirmed Monoallelic Loss of function Coffin Siris Syndrome
ARID1B Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant 12
ARID2 Probable Monoallelic Loss of function ARID2-Coffin-Siris Like Disorder
ARL6 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 3
ARL6 Confirmed Biallelic Uncertain Retinitis Pigmentosa Type 55
ARMC4 Confirmed Biallelic Loss of function Ciliary Dyskinesia, Primary, 23
ARMC9 Confirmed Biallelic Loss of function Joubert Syndrome 30
ARSA Confirmed Biallelic Loss of function Arylsulfatase A Deficiency
ARSB Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 6
ARSE Confirmed Hemizygous Loss of function Chondrodysplasia Punctata 1, X-Linked
ARX Confirmed Hemizygous Loss of function Agenesis of the Corpus Callosum with Abnormal Genitalia
ARX Confirmed Hemizygous Loss of function Epileptic Encephalopathy Early Infantile Type 1
ARX Confirmed Hemizygous Loss of function Lissencephaly X-Linked Type 2
ARX Confirmed Hemizygous Loss of function Mental Retardation X-Linked Arx-Related
ARX Confirmed Hemizygous Uncertain Partington Syndrome
ASAH1 Confirmed Biallelic All missense/in frame Farber Lipogranulomatosis
ASAH1 Confirmed Biallelic Loss of function Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy
ASH1L Probable Monoallelic All missense/in frame Intellectual Disability
ASL Confirmed Biallelic Loss of function Argininosuccinate Lyase Deficiency
ASPA Confirmed Biallelic Loss of function Canavan Disease
ASPH Probable Biallelic Loss of function Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs
ASPM Confirmed Biallelic Loss of function Primary Autosomal Recessive Microcephaly
ASS1 Confirmed Biallelic Loss of function Citrullinemia Type I
ASXL1 Confirmed Monoallelic Loss of function Bohring-Opitz Syndrome
ASXL2 Probable Monoallelic Loss of function Developmental Delay, Macrocephaly, and Dysmorphic Features
ASXL3 Probable Monoallelic Loss of function Bainbridge-Ropers Syndrome
ATAD3A Probable Biallelic Loss of function ATAD3A Disorder-Global Developmental Delay, Hypotonia, Optic Atrophy, Axonal Neuropathy, and Hypertrophic Cardiomyopathy
ATAD3A Confirmed Monoallelic Dominant negative ATAD3A Disorder-Global Developmental Delay, Hypotonia, Optic Atrophy, Axonal Neuropathy, and Hypertrophic Cardiomyopathy
ATIC Confirmed Biallelic Loss of function Aica-Ribosuria
ATM Confirmed Biallelic Loss of function Ataxia-Telangiectasia
ATP13A2 Both DD and IF Biallelic Loss of function Parkinson Disease 9
ATP1A3 Both DD and IF Monoallelic All missense/in frame Alternating Hemiplegia of Childhood
ATP1A3 Both DD and IF Monoallelic All missense/in frame Rapid-Onset Dystonia-Parkinsonism
ATP6V1B1 Confirmed Biallelic Loss of function Distal Renal Tubular Acidosis with Deafness
ATP6V1B2 Probable Monoallelic Dominant negative Zimmermann-Laband Syndrome
ATP7A Confirmed Hemizygous Loss of function Menkes Disease
ATP7A Confirmed Hemizygous Loss of function Occipital Horn Syndrome
ATP7A Confirmed Hemizygous All missense/in frame Spinal Muscular Atrophy, Distal, X-Linked 3
ATP8B1 Confirmed Biallelic Loss of function ATP8B1-Related Intrahepatic Cholestasis
ATR Probable Biallelic Loss of function Seckel Syndrome Type 1
ATRX Confirmed Hemizygous Loss of function Alpha-Thalassemia Mental Retardation Syndrome X-Linked Non-Deletion Type
ATRX Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked with Hypotonic Facies Syndrome Type 1
AUH Confirmed Biallelic Loss of function 3-Methylglutaconic Aciduria Type 1
AUTS2 Confirmed Monoallelic Loss of function Syndromic Intellectual Disability
B3GALNT2 Probable Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 11
B3GALT6 Confirmed Biallelic Loss of function Ehlers-Danlos Syndrome
B3GALT6 Confirmed Biallelic Loss of function Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1
B4GALT7 Confirmed Biallelic Loss of function Ehlers-Danlos Syndrome Progeroid Type
B9D1 Probable Biallelic Loss of function Meckel Syndrome 9
BANF1 Probable Biallelic All missense/in frame Nestor-Guillermo Progeria Syndrome
BBS1 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 1
BBS10 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 10
BBS12 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 12
BBS2 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 2
BBS4 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 4
BBS5 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 5
BBS7 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 7
BBS9 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 9
BCAP31 Confirmed Hemizygous Loss of function Deafness, Dystonia, and Central Hypomyelination with Disorganization of the Golgi Apparatus
BCKDHA Confirmed Biallelic Loss of function Maple Syrup Urine Disease
BCKDHB Confirmed Biallelic Loss of function Maple Syrup Urine Disease
BCL11A Confirmed Monoallelic Loss of function Intellectual Disability
BCOR Confirmed X-linked dominant Loss of function Microphthalmia Syndromic Type 2
BCS1L Confirmed Biallelic Loss of function Gracile Syndrome
BFSP2 Confirmed Monoallelic Uncertain Cataract Autosomal Dominant BFSP2-Related
BGN Both DD and IF Hemizygous Loss of function Severe Syndromic Form of Thoracic Aortic Aneurysm & Dissection
BGN Probable Hemizygous All missense/in frame X-Linked Spondyloepimetaphyseal Dysplasia
BHLHA9 Confirmed Biallelic Dominant negative Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
BHLHA9 Confirmed Monoallelic Increased gene dosage Split Hand and Foot Malformation
BICD2 Confirmed Monoallelic All missense/in frame Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
BIN1 Confirmed Biallelic Loss of function Centronuclear Myopathy 2
BLM Confirmed Biallelic Loss of function Bloom Syndrome
BLOC1S6 Probable Biallelic Loss of function Hermansky-Pudlak Syndrome 9
BMP2 Probable Monoallelic Loss of function Short Stature, Palatal Anomalies, Congenital Heart Disease, and Skeletal Malformations
BMP4 Confirmed Monoallelic Loss of function Microphthalmia, Syndromic 6
BMP4 Confirmed Monoallelic Loss of function Orofacial Cleft 11
BMPER Confirmed Biallelic Loss of function Diaphanospondylodysostosis
BMPR1B Confirmed Biallelic Loss of function Brachydactyly Type A2
BOLA3 Probable Biallelic Loss of function Multiple Mitochondrial Dysfunctions Syndrome 2
BPTF Probable Monoallelic Loss of function Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
BRAF Confirmed Monoallelic Activating Cardiofaciocutaneous Syndrome
BRAF Confirmed Monoallelic Activating Leopard Syndrome Type 3
BRAF Confirmed Monoallelic Activating Noonan Syndrome Type 7
BRAT1 Probable Biallelic Loss of function Lethal Neonatal Rigidity and Seizure Syndrome
BRCA1 Both DD and IF Biallelic Loss of function Intellectual Disability
BRCA2 Both DD and IF Biallelic Loss of function Fanconi Anemia Complementation Group D Type 1
BRIP1 Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group J
BRPF1 Confirmed Monoallelic Loss of function BRPF1 Associated Syndromic Intellectual Disability with Ptosis
BRWD3 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 93
BSND Confirmed Biallelic Loss of function Bartter Syndrome Type 4A
BTD Confirmed Biallelic Loss of function Biotinidase Deficiency
BUB1B Confirmed Biallelic Loss of function Mosaic Variegated Aneuploidy Syndrome 1
C12orf57 Probable Biallelic All missense/in frame Temtamy Syndrome; Coloboma, Hypoplastic Corpus Callosum and Intellectual Disability
C12orf65 Confirmed Biallelic Loss of function Combined Oxidative Phosphorylation Deficiency 7
C1QBP Probable Biallelic All missense/in frame Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
C21orf2 Confirmed Biallelic Loss of function Axial Spondylometaphyseal Dysplasia
C21orf59 Probable Biallelic Loss of function Primary Ciliary Dyskinesia
C2CD3 Probable Biallelic Loss of function Orofaciodigital Syndrome XIV
C2orf71 Confirmed Biallelic Loss of function Retinitis Pigmentosa 54
C4orf26 Confirmed Biallelic Loss of function Amyelogenesis
C5orf42 Confirmed Biallelic Loss of function Joubert Syndrome
C8orf37 Confirmed Biallelic Loss of function Cone-Rod Dystrophy 16
CA2 Confirmed Biallelic Loss of function Osteopetrosis Autosomal Recessive Type 3
CA5A Probable Biallelic Loss of function Hyperammonemia due to Carbonic Anhydrase Va Deficiency
CA8 Confirmed Biallelic Loss of function Cerebellar Ataxia Mental Retardation and Dysequilibrium Syndrome Type 3
CACNA1A Probable Monoallelic All missense/in frame Epileptic Encephalopathy
CACNA1C Confirmed Monoallelic Activating Timothy Syndrome
CACNA1D Probable Monoallelic Activating Primary Aldosteronism, Seizures, and Neurologic Abnormalities
CACNA1D Probable Biallelic Loss of function Sinoatrial Node Dysfunction and Deafness
CACNA1E Probable Monoallelic Gain of function Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
CAD Confirmed Uridine-Responsive Epileptic Encephalopathy
CAMK2A Probable Monoallelic Loss of function Intellectual Disability
CAMK2B Probable Monoallelic Loss of function Intellectual Disability
CAMTA1 Probable Monoallelic Loss of function Cerebellar Ataxia, Nonprogressive, with Mental Retardation
CARKD Probable Neurodegenerative Disorder Exacerbated by Febrile Illnesses
CARS2 Probable Biallelic Loss of function Epileptic Encephalopathy with Complex Movement Disorder and Regression
CASK Confirmed Hemizygous Uncertain FG Syndrome Type 4
CASK Confirmed X-linked dominant Loss of function Mental Retardation X-Linked Cask-Related
CASK Confirmed Hemizygous All missense/in frame MRX with/without Nystagmus
CBL Confirmed Monoallelic Activating Noonan Syndrome-Like Disorder with or without Juvenile Meylomonocytic Leukemia
CBS Confirmed Biallelic Loss of function Cystathionine Beta-Synthase Deficiency
CC2D1A Confirmed Biallelic Loss of function Mental Retardation Autosomal Recessive Type 3
CC2D2A Confirmed Biallelic Loss of function Coach Syndrome
CC2D2A Confirmed Biallelic Loss of function Joubert Syndrome 9
CC2D2A Confirmed Biallelic Loss of function Meckel Syndrome, Type 6
CCBE1 Confirmed Biallelic Loss of function Hennekam Lymphangiectasia-Lymphedema Syndrome
CCDC103 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia
CCDC114 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia
CCDC115 Confirmed Biallelic Loss of function Disorder of Golgi Homeostasis
CCDC151 Probable Biallelic Loss of function Primary Cillary Dyskineasia
CCDC22 Probable Hemizygous All missense/in frame Syndromic X-Linked Intellectual Disability
CCDC39 Confirmed Biallelic Loss of function Ciliary Dyskinesia, Primary, 14
CCDC40 Confirmed Biallelic Loss of function Ciliary Dyskinesia, Primary, 15
CCDC41 Confirmed Biallelic Loss of function Infantile Nephronophthisis and Intellectual Disability
CCDC65 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia
CCDC78 Probable Monoallelic Loss of function Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
CCDC8 Probable Biallelic Loss of function Three M Syndrome 3
CCDC88C Probable Biallelic Loss of function Hydrocephalus, Nonsyndromic, Autosomal Recessive
CCND2 Confirmed Monoallelic Activating Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
CCNO Confirmed Biallelic Loss of function Ciliary Dyskinesia, Primary, 29
CD151 Probable Biallelic Loss of function Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
CD96 Probable Monoallelic Loss of function C Syndrome
CDC45 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome and Craniosynostosis
CDC6 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome 5
CDH1 Both DD and IF Monoallelic All missense/in frame Blepharo-Cheiro-Dontic Syndrome
CDH23 Confirmed Biallelic All missense/in frame Deafness Autosomal Recessive Type 12
CDH23 Confirmed Biallelic Loss of function Usher Syndrome Type 1D
CDH3 Confirmed Biallelic Loss of function Eem Syndrome
CDH3 Confirmed Biallelic Loss of function Hypotrichosis, Congenital, with Juvenile Macular Dystrophy
CDK13 Confirmed Monoallelic All missense/in frame Syndromic Intellectual Disability with or without Congenital Heart Disease
CDK5RAP2 Probable Biallelic Loss of function Primary Autosomal Recessive Microcephaly
CDKL5 Confirmed X-linked dominant Loss of function Epileptic Encephalopathy Early Infantile Type 2
CDKN1C Confirmed Imprinted Loss of function Beckwith-Wiedemann Syndrome
CDKN1C Confirmed Imprinted Gain of function Image Syndrome
CDON Confirmed Monoallelic All missense/in frame Holoprosencephaly 11
CDT1 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome 4
CENPF Probable Biallelic Loss of function Stromme Syndrome
CENPJ Confirmed Biallelic Loss of function Microcephaly Primary Type 6
CENPJ Confirmed Biallelic Loss of function Seckel Syndrome Type 4
CEP104 Confirmed Biallelic Loss of function Joubert Syndrome
CEP135 Probable Biallelic Loss of function Primary Microcephaly and Disturbed Centrosomal Function
CEP152 Confirmed Biallelic Loss of function Microcephaly Primary Type 4
CEP152 Confirmed Biallelic Loss of function Seckel Syndrome Type 5
CEP290 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 14
CEP290 Confirmed Biallelic Loss of function Joubert Syndrome Type 5
CEP290 Confirmed Biallelic Loss of function Leber Congenital Amaurosis Type 10
CEP290 Confirmed Biallelic Loss of function Meckel Syndrome Type 4
CEP290 Confirmed Biallelic Loss of function Senior-Loken Syndrome Type 6
CEP41 Confirmed Biallelic Loss of function Joubert Syndrome 15
CEP57 Confirmed Biallelic Loss of function Mosaic Variegated Aneuploidy Syndrome 2
CEP63 Probable Biallelic Loss of function Seckel Syndrome 6
CFC1 Probable Monoallelic Loss of function CFC1-Related Conotruncal Heart Malformations
CFL2 Probable Biallelic All missense/in frame Nemaline Myopathy 7
CHAMP1 Confirmed Monoallelic Loss of function Intellectual Disability
CHD2 Confirmed Monoallelic Loss of function Epileptic Encephalopathy
CHD3 Probable Monoallelic All missense/in frame Apraxia of Speech
CHD4 Confirmed Monoallelic Loss of function Syndromic Intellectual Disability with or without Congenital Heart Disease
CHD7 Confirmed Monoallelic Loss of function Charge Syndrome
CHD7 Confirmed Monoallelic Loss of function Idiopathic Hypogonadotropic Hypogonadism
CHD7 Confirmed Monoallelic Loss of function Kallmann Syndrome Type 5
CHD8 Probable Monoallelic Loss of function Autism
CHM Confirmed Hemizygous Loss of function Choroideremia
CHMP1A Probable Biallelic Loss of function Pontocerebellar Hypoplasia and Microcephaly
CHRDL1 Confirmed Hemizygous Loss of function Megalocornea, X-Linked
CHRNA1 Probable Biallelic Loss of function Multiple Pterygium Syndrome Lethal Type
CHRNA4 Confirmed Monoallelic Activating Nocturnal Frontal Lobe Epilepsy Type 1
CHRNB2 Probable Monoallelic Activating CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
CHRNB2 Probable Monoallelic Activating Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
CHRNG Confirmed Biallelic Loss of function Multiple Pterygium Syndrome Escobar Variant
CHST14 Confirmed Biallelic Loss of function Ehlers-Danlos Syndrome Musculocontractural Type
CHST3 Confirmed Biallelic Loss of function Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
CHSY1 Confirmed Biallelic Loss of function Temtamy Preaxial Brachydactyly Syndrome
CHUK Confirmed Biallelic Loss of function Cocoon Syndrome
CIB2 Confirmed Biallelic All missense/in frame Nonsyndromic Deafness DFNB48
CIB2 Confirmed Biallelic Loss of function Usher Syndrome Type 1J
CISD2 Both DD and IF Biallelic Loss of function Wolfram Syndrome Type 2
CIT Probable Biallelic All missense/in frame Primary Microcephaly
CKAP2L Confirmed Biallelic Loss of function Filippi Syndrome. Syndactyly, Type I, with Microcephaly and Mental Retardation
CLCN7 Confirmed Biallelic Loss of function CLCN7-Related Osteopetrosis
CLCNKB Probable Biallelic Loss of function Bartter Syndrome Type 4B
CLDN19 Confirmed Biallelic Uncertain Hypomagnesemia 5, Renal, with Ocular Involvement
CLMP Probable Biallelic Loss of function Congenital Short Bowel Syndrome
CLN3 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 3
CLN5 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 5
CLN6 Both DD and IF Biallelic Loss of function Ceroid Lipofuscinosis, Neuronal, 6
CLN6 Both DD and IF Biallelic All missense/in frame Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset
CLN8 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 8
CLN8 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 8 Northern Epilepsy Variant
CLP1 Probable Biallelic All missense/in frame Pontocerebellar Hypoplasia, Type 10
CLPB Confirmed Biallelic Loss of function 3-Methylglutaconic Aciduria, Type VII, with Cataracts, Neurologic Involvement and Neutropenia
CLPP Probable Biallelic All missense/in frame Perrault Syndrome
CLTC Probable Monoallelic Loss of function Epilepsy and Intellectual Disability
CNKSR2 Probable Hemizygous Loss of function Intellectual Disability with Epilepsy
CNOT3 Confirmed Monoallelic Loss of function CNOT3 Syndrome
CNTNAP1 Probable Biallelic Loss of function Lethal Congenital Contracture Syndrome 7
CNTNAP2 Confirmed Biallelic Loss of function Cortical Dysplasia-Focal Epilepsy Syndrome
COASY Confirmed Biallelic Loss of function Neurodegeneration with Brain Iron Accumulation
COG1 Confirmed Biallelic Loss of function COG1-CDG
COG4 Confirmed Biallelic Loss of function COG4-CDG
COG4 Probable Monoallelic Gain of function Saul-Wilson Syndrome
COG5 Probable Biallelic Loss of function COG5-CDG
COG7 Confirmed Biallelic Loss of function COG7-CDG
COG8 Confirmed Biallelic Loss of function COG8-CDG
COL10A1 Confirmed Monoallelic Dominant negative Schmid Type Metaphyseal Chondrodysplasia
COL11A1 Confirmed Biallelic Loss of function Fibrochondrogenesis
COL11A1 Confirmed Monoallelic Dominant negative Stickler Syndrome, Type II
COL11A2 Confirmed Biallelic Dominant negative Autosomal Recessive Otospondylomegaepiphyseal Dysplasia
COL11A2 Confirmed Monoallelic All missense/in frame Deafness Autosomal Dominant Type 13
COL11A2 Confirmed Biallelic All missense/in frame Deafness Autosomal Recessive Type 53
COL11A2 Confirmed Monoallelic Dominant negative Stickler Syndrome Type 3
COL11A2 Confirmed Monoallelic Dominant negative Weissenbacher-Zweymueller Syndrome
COL13A1 Probable Biallelic Loss of function Congenital Myasthenic Syndrome Type 19
COL18A1 Confirmed Biallelic Loss of function Knobloch Syndrome Type I
COL1A1 Confirmed Monoallelic Uncertain Caffey Disease
COL1A1 Confirmed Monoallelic Dominant negative COL1A1/2-Related Osteogenesis Imperfecta
COL1A1 Confirmed Monoallelic Dominant negative Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related
COL1A1 Confirmed Monoallelic Dominant negative Ehlers-Danlos Syndrome Type VIIa
COL1A1 Confirmed Monoallelic Dominant negative Osteogenesis Imperfecta Type I
COL1A1 Confirmed Monoallelic Dominant negative Osteogenesis Imperfecta Type IIa
COL1A1 Confirmed Monoallelic Dominant negative Osteogenesis Imperfecta Type III
COL25A1 Probable Biallelic Loss of function Fibrosis of Extraocular Muscles, Congenital, 5
COL2A1 Confirmed Monoallelic Dominant negative Achondrogenesis Type 2
COL2A1 Confirmed Monoallelic Dominant negative Kniest Dysplasia
COL2A1 Confirmed Monoallelic Loss of function Platyspondylic Lethal Skeletal Dysplasia Torrance Type
COL2A1 Confirmed Monoallelic Loss of function Rhegmatogenous Retinal Detachment Autosomal Dominant
COL2A1 Confirmed Monoallelic All missense/in frame Spondyloepimetaphyseal Dysplasia Strudwick Type
COL2A1 Confirmed Monoallelic Uncertain Spondyloepiphyseal Dysplasia Congenita
COL2A1 Confirmed Monoallelic Loss of function Spondyloperipheral Dysplasia
COL2A1 Confirmed Monoallelic Loss of function Stickler Syndrome Type 1 Non-Syndromic Ocular
COL4A1 Both DD and IF Monoallelic Dominant negative Porencephaly 1
COL4A2 Both DD and IF Monoallelic Dominant negative Porencephaly 2
COL4A3 Confirmed Monoallelic Loss of function Alport Syndrome Autosomal Dominant
COL4A3 Confirmed Biallelic Loss of function Alport Syndrome Autosomal Recessive
COL4A3BP Confirmed Monoallelic Activating Intellectual Disability
COL4A4 Confirmed Biallelic Loss of function Alport Syndrome Autosomal Recessive
COL6A1 Confirmed Monoallelic All missense/in frame COL6A1 Associated Myopathy
COL6A3 Confirmed Biallelic Loss of function Dystonia 27
COL6A3 Confirmed Biallelic Loss of function Ullrich Congenital Muscular Dystrophy 1
COL9A1 Confirmed Monoallelic Dominant negative Multiple Epiphyseal Dysplasia Type 6
COL9A1 Confirmed Biallelic Loss of function Stickler Syndrome Type 4
COL9A2 Confirmed Monoallelic Dominant negative Multiple Epiphyseal Dysplasia Type 2
COL9A2 Confirmed Biallelic Loss of function Stickler Syndrome, Type V
COL9A3 Confirmed Monoallelic Dominant negative Multiple Epiphyseal Dysplasia Type 3
COLEC10 Probable Biallelic Loss of function 3MC
COLEC11 Confirmed Biallelic Loss of function 3MC Syndrome 2
COMP Confirmed Monoallelic Dominant negative are the Cause of Pseudoachondroplasia
COMP Confirmed Monoallelic Dominant negative Multiple Epiphyseal Dysplasia Type 1
COQ2 Confirmed Biallelic Loss of function Coenzyme Q10 Deficiency
COQ4 Probable Biallelic Loss of function Coenzyme Q10 Deficiency, Primary, 7
COQ9 Confirmed Biallelic Loss of function Coenzyme Q10 Deficiency
COX10 Confirmed Biallelic Uncertain Leigh Syndrome
COX10 Confirmed Biallelic Uncertain Mitochondrial Complex IV Deficiency
COX15 Confirmed Biallelic Loss of function Leigh Syndrome
COX15 Confirmed Biallelic Loss of function Mitochondrial Complex IV Deficiency
COX6B1 Confirmed Biallelic Loss of function Mitochondrial Complex IV Deficiency
COX7B Confirmed X-linked dominant Loss of function Microphthalmia with Linear Skin Lesions
CPAMD8 Probable Biallelic Loss of function Anterior Segment Dysgenesis
CPS1 Confirmed Biallelic Loss of function Carbamoyl Phosphate Synthetase 1 Deficiency
CRADD Probable Biallelic All missense/in frame Megalencephaly with Variant Lissencephaly
CRB1 Confirmed Biallelic Loss of function Leber Congenital Amaurosis 8
CRB1 Confirmed Biallelic Loss of function Retinitis Pigmentosa-12, Autosomal Recessive
CRB2 Confirmed Biallelic Loss of function Ventriculomegaly with Cystic Kidney Disease
CREBBP Confirmed Monoallelic Loss of function Crebbp Intellectual Disability without Typical RTS Features
CREBBP Confirmed Monoallelic Loss of function Rubinstein-Taybi Syndrome Type 1
CRELD1 Probable Monoallelic All missense/in frame Heterotaxy Syndrome
CRX Confirmed Monoallelic Loss of function CRX-Related Leber Congenital Amaurosis Leber Congenital Amaurosis 7
CRYAA Confirmed Biallelic Loss of function Cataract, Autosomal Recessive Congenital 1
CRYAA Confirmed Monoallelic All missense/in frame Cataract, Nuclear
CRYBA1 Confirmed Monoallelic Loss of function Cataract Congenital Zonular with Sutural Opacities
CRYBA4 Confirmed Monoallelic Dominant negative Cataract Zonular Type 2
CRYBB1 Confirmed Biallelic Loss of function Cataract, Congenital Nuclear, Autosomal Recessive 3
CRYBB1 Confirmed Monoallelic Loss of function Cataract, Congenital Nuclear, Autosomal Recessive 3
CRYBB2 Confirmed Monoallelic Uncertain Cataract, Congenital, Cerulean Type, 2
CRYBB2 Confirmed Monoallelic Loss of function Cataract, Coppock-Like
CRYBB3 Confirmed Biallelic Uncertain Cataract, Congenital Nuclear, Autosomal Recessive 2
CRYGC Confirmed Monoallelic Loss of function Cataract Autosomal Dominant
CRYGD Confirmed Monoallelic Uncertain Cataract Autosomal Dominant
CRYGD Confirmed Monoallelic Uncertain Cataract Congenital Cerulean Type 3
CSNK2A1 Confirmed Monoallelic Activating CSNK2A1 Syndrome
CSPP1 Confirmed Biallelic Loss of function Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
CSTA Probable Biallelic Loss of function Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like
CSTB Confirmed Biallelic Loss of function Unverricht-Lundborg Disease
CTC1 Confirmed Biallelic Loss of function Cerebroretinal Microangiopathy with Calcifications and Cysts
CTCF Confirmed Monoallelic Loss of function Intellectual Disability
CTDP1 Confirmed Biallelic Loss of function Congenital Cataracts Facial Dysmorphism and Neuropathy Syndrome
CTNNA2 Probable Biallelic Loss of function Disordered Cortical Neuronal Migration
CTNNB1 Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant 19
CTNND1 Probable Monoallelic Loss of function Blepharo-Cheiro-Dontic Syndrome
CTNS Confirmed Biallelic Loss of function Cystinosis Adult Non-Nephropathic Type
CTNS Confirmed Biallelic Loss of function Cystinosis Late-Onset Juvenile or Adolescent Nephropathic Type
CTNS Confirmed Biallelic Loss of function Cystinosis Nephropathic Type
CTSA Confirmed Biallelic Loss of function Galactosialidosis
CTSD Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 10
CTSK Confirmed Biallelic Loss of function Pycnodysostosis
CUL4B Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Cabezas Type
CUL7 Confirmed Biallelic Loss of function 3-M Syndrome 1
CUX2 Probable Monoallelic All missense/in frame Developmental Epileptic Encephalopathy
CWC27 Confirmed Biallelic Loss of function Retinitis Pigmentosa, Skeletal Anomalies and Intellectual Disability
CYB5R3 Probable Biallelic Loss of function Methemoglobinemia due to Deficiency of Methemoglobin Reductase
CYC1 Confirmed Biallelic All missense/in frame Mitochondrial Complex III Deficiency, Nuclear Type 6
CYP1B1 Confirmed Biallelic Uncertain Primary Congenital Glaucoma Type 3A
CYP2U1 Confirmed Biallelic Loss of function Hereditary Spastic Paraplegia
DAG1 Confirmed Biallelic All missense/in frame Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C7
DARS Confirmed Biallelic All missense/in frame Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
DARS2 Both DD and IF Biallelic Loss of function Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
DBT Confirmed Biallelic Loss of function Maple Syrup Urine Diseaseq
DCC Probable Biallelic Loss of function Midline-Bridging Neuronal Commissure Disruption, Horizontal Gaze Palsy, Scoliosis, and Intellectual Disability
DCDC2 Probable Biallelic Loss of function Renal-Hepatic Ciliopathy
DCHS1 Confirmed Biallelic Loss of function Periventricular Neuronal Heterotopia
DCX Confirmed Hemizygous Loss of function Lissencephaly X-Linked Type 1
DCX Confirmed X-linked dominant Loss of function Subcortical Band Heterotopia X-Linked
DDB2 Confirmed Biallelic Loss of function Xeroderma Pigmentosum, Group E, DDB-Negative Subtype
DDC Confirmed Biallelic Loss of function Aromatic L-Amino-Acid Decarboxylase Deficiency
DDHD1 Confirmed Biallelic Loss of function Hereditary Spastic Paraplegia
DDHD2 Confirmed Biallelic Loss of function Complex Hereditary Spastic Paraplegia
DDOST Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation, Type Ir
DDR2 Confirmed Biallelic Uncertain Spondyloepimetaphyseal Dysplasia Short Limb-Hand Type
DDX11 Confirmed Biallelic Loss of function Warsaw Breakage Syndrome
DDX3X Confirmed Hemizygous All missense/in frame Intellectual Diability
DDX3X Confirmed X-linked dominant Loss of function Intellectual Diability
DDX59 Probable Biallelic All missense/in frame Orofaciodigital Syndrome
DDX6 Probable Monoallelic All missense/in frame Intellectual Disability
DEAF1 Probable Autism, Intellectual Disability, Basal Ganglia Dysfunction and Epilepsy
DEAF1 Confirmed Monoallelic Dominant negative Mental Retardation, Autosomal Dominant 24
DENND5A Probable Biallelic Loss of function Epileptic Encephalopathy
DEPDC5 Confirmed Monoallelic Loss of function Familial Focal Epilepsy with Variable Foci
DHCR24 Confirmed Biallelic Loss of function Desmosterolosis
DHCR7 Confirmed Biallelic Loss of function Smith-Lemli-Opitz Syndrome
DHDDS Probable Monoallelic All missense/in frame Epilepsy and Intellectual Disability
DHFR Confirmed Biallelic All missense/in frame Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
DHODH Confirmed Biallelic Loss of function Postaxial Acrofacial Dysostosis
DHTKD1 Probable Biallelic Loss of function 2-Aminoadipic and 2-Oxoadipic Aciduria
DHX30 Probable Monoallelic All missense/in frame Neurodevelopmental Disorder
DIS3L2 Confirmed Biallelic Loss of function Perlman Syndrome
DKC1 Confirmed Hemizygous Loss of function DKC1-Related Dyskeratosis Congenita
DKC1 Confirmed Hemizygous Loss of function Dyskeratosis Congenita, X-Linked
DLAT Confirmed Biallelic Loss of function Pyruvate Dehydrogenase E2 Deficiency
DLD Confirmed Biallelic Loss of function Dihydrolipoamide Dehydrogenase (E3) Deficiency
DLD Confirmed Biallelic Loss of function Leigh Syndrome
DLG3 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 90
DLG4 Probable Monoallelic Loss of function DLG4 Related Intellectual Disability
DLL3 Confirmed Biallelic Loss of function Spondylocostal Dysostosis Type 1
DLL4 Confirmed Monoallelic Loss of function Adams-Oliver Syndrome 6
DMD Confirmed Hemizygous Loss of function Becker Muscular Dystrophy
DMD Confirmed Hemizygous Loss of function Cardiomyopathy Dilated X-Linked Type 3B
DMD Confirmed Hemizygous Loss of function Duchenne Muscular Dystrophy
DMP1 Confirmed Biallelic Loss of function Hypophosphatemic Rickets, Ar
DMPK Confirmed Monoallelic Dominant negative Dystrophia Myotonica Type 1
DNAAF3 Confirmed Biallelic Loss of function Primary Ciliary Dyskineasia
DNAH5 Probable Biallelic Loss of function Ciliary Dyskinesia, Primary, 3
DNAJC12 Probable Biallelic Loss of function Hyperphenylalaninemia, Dystonia, and Intellectual Disability
DNM1 Probable Monoallelic All missense/in frame Epileptic Encephalopathy
DNMT3A Probable Monoallelic Gain of function Microcephalic Primordial Dwarfism
DNMT3A Confirmed Monoallelic Loss of function Tatton-Brown Rahman Syndrome (Overgrowth Syndrome with Intellectual Disability)
DNMT3B Confirmed Biallelic Loss of function Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
DOCK6 Probable Biallelic Loss of function Adams-Oliver Syndrome 2
DOCK7 Probable Biallelic Loss of function Epileptic Encephalopathy, Early Infantile, 23
DOCK8 Confirmed Biallelic Loss of function Hyperimmunoglobulin E Recurrent Infection Syndrome Autosomal Recessive
DOLK Confirmed Biallelic All missense/in frame Congenital Disorders of Glycosylation
DPAGT1 Confirmed Biallelic All missense/in frame DPAGT1-CDG
DPAGT1 Confirmed Biallelic Loss of function Myasthenic Syndrome, Congenital, with Tubular Aggregates 2
DPF2 Probable Monoallelic Dominant negative Coffin Siris Like Disorder
DPM1 Confirmed Biallelic Loss of function Congenital Disorders of Glycosylation
DPM3 Probable Biallelic Loss of function Congenital Disorder of Glycosylation Type 1O
DRC1 Probable Biallelic Loss of function Primary Cilary Dyskineasia
DSG1 Probable Biallelic Loss of function Severe Dermatitis, Multiple Allergies and Metabolic Wasting
DSPP Confirmed Monoallelic All missense/in frame Deafness Autosomal Dominant Type 39 with Dentinogenesis Imperfecta 1
DSPP Confirmed Monoallelic Loss of function Dentinogenesis Imperfecta, Shields Type II
DSTYK Confirmed Monoallelic Loss of function Congenital Anomalies of Kidney and Urinary Tract, CAKUT1
DVL1 Confirmed Monoallelic Activating Autosomal-Dominant Robinow Syndrome
DVL3 Confirmed Monoallelic Dominant negative Autosomal-Dominant Robinow Syndrome
DYM Confirmed Biallelic Loss of function Dyggve-Melchior-Clausen Syndrome
DYM Confirmed Biallelic Loss of function Smith-Mccort Dysplasia
DYNC1H1 Confirmed Monoallelic All missense/in frame Severe ID with Neuronal Migration Disorder
DYNC1H1 Confirmed Monoallelic All missense/in frame Spinal Muscular Atrophy, Lower Extremity-Predominant, Ad
DYNC2H1 Confirmed Biallelic Loss of function Asphyxiating Thoracic Dystrophy Type 3
DYNC2H1 Confirmed Biallelic Loss of function Short Rib-Polydactyly Syndrome Type 3
DYRK1A Confirmed Monoallelic Loss of function Mental Retardation Autosomal Dominant Type 7
DYX1C1 Confirmed Biallelic Loss of function Primary Ciliary Dysplasia
EBF3 Confirmed Monoallelic Loss of function Intellectual Disability, Ataxia, and Facial Dysmorphism
EBP Confirmed X-linked dominant Loss of function Chondrodysplasia Punctata 2, X-Linked
ECEL1 Confirmed Biallelic Loss of function Distal Arthrogryposis Type 5D
EDA Confirmed Hemizygous Loss of function Ectodermal Dysplasia Type 1
EDA Confirmed Hemizygous All missense/in frame Tooth Agenesis Selective X-Linked Type 1
EDAR Confirmed Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
EDN1 Probable Biallelic All missense/in frame Auriculocondylar Syndrome
EDN1 Probable Monoallelic Loss of function Auriculocondylar Syndrome
EDNRA Confirmed Monoallelic Activating Mandibulofacial Dysostosis with Alopecia
EDNRB Confirmed Monoallelic Loss of function Abcd Syndrome
EED Probable Monoallelic All missense/in frame Weaver-Like Overgrowth Syndrome
EEF1A2 Probable Monoallelic Activating Infantile Epileptic Encephalopathy
EFNB1 Confirmed X-linked over-dominance Loss of function Craniofrontonasal Syndrome
EFTUD2 Confirmed Monoallelic Loss of function Mandibulofacial Dysostosis with Microcephaly
EGR2 Confirmed Biallelic Loss of function Neuropathy, Congenital Hypomyelinating, 1
EHMT1 Confirmed Monoallelic Loss of function 9Q Subtelomeric Deletion Syndrome
EIF2AK3 Confirmed Biallelic Loss of function Wolcott-Rallison Syndrome
EIF2S3 Probable Hemizygous Loss of function Syndromic ID with Severe Microcephaly
EIF4A3 Confirmed Biallelic 5_prime or 3_prime UTR mutation Richieri-Costa-Pereira Syndrome
ELAC2 Confirmed Biallelic Loss of function Infantile Hypertrophic Cardiomyopathy, Lactic Acidosis, and Isolated Complex I Deficiency
ELMO2 Probable Biallelic Loss of function Intraosseous Vascular Malformation
ELN Confirmed Monoallelic Loss of function Eln-Related Cutis Laxa
ELN Confirmed Monoallelic Loss of function Supravalvar Aortic Stenosis
ELOVL4 Confirmed Biallelic Loss of function Ichthyosis, Spastic Quadriplegia, and Mental Retardation
EMC1 Probable Biallelic Loss of function Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
EMC1 Probable Monoallelic Dominant negative Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
EMG1 Probable Biallelic Uncertain Bowen-Conradi Syndrome
ENPP1 Confirmed Biallelic Loss of function Arterial Calcification, Generalized, of Infancy, 1
ENPP1 Confirmed Biallelic Loss of function Hypophosphatemic Rickets, Autosomal Recessive, 2
EOGT Confirmed Biallelic Loss of function Adams Oliver Syndrome
EP300 Confirmed Monoallelic Loss of function Rubinstein-Taybi Syndrome Type 2
EPG5 Confirmed Biallelic Loss of function Immunodeficiency with Cleft Lip/Palate, Cataract, Hypopigmentation, and Absent Corpus Callosum
EPT1 Probable EPT1-Related Complex Progressive Hereditary Spastic Paraplegia
ERBB3 Probable Biallelic All missense/in frame Hirschprung Disease with Intestinal Pseudo-Obstruction
ERCC1 Confirmed Biallelic Loss of function Cerebrooculofacioskeletal Syndrome 4
ERCC1 Confirmed Biallelic Loss of function Fanconi Anemia
ERCC2 Confirmed Biallelic Loss of function Cerebro-Oculo-Facio-Skeletal Syndrome Type 2
ERCC2 Confirmed Biallelic Loss of function Trichothiodystrophy Photosensitive
ERCC2 Confirmed Biallelic Loss of function Xeroderma Pigmentosum Complementation Group D
ERCC3 Confirmed Biallelic Loss of function Trichothiodystrophy Photosensitive
ERCC3 Confirmed Biallelic Loss of function Xeroderma Pigmentosum Complementation Group B
ERCC4 Probable Biallelic Loss of function Fanconi Anemia, Complementation Group Q
ERCC4 Probable Biallelic Loss of function Primordial Dwarfism
ERCC4 Confirmed Biallelic Loss of function Xeroderma Pigmentosum, Group F
ERCC4 Probable Biallelic Loss of function Xfe Progeroid Syndrome
ERCC5 Confirmed Biallelic Loss of function Xeroderma Pigmentosum Complementation Group G
ERCC6 Confirmed Biallelic Loss of function Cerebro-Oculo-Facio-Skeletal Syndrome Type 1
ERCC6 Confirmed Biallelic Loss of function Cockayne Syndrome Type B
ERCC6 Confirmed Biallelic Loss of function De Sanctis-Cacchione Syndrome
ERCC6 Confirmed Biallelic Loss of function Uv-Sensitive Syndrome
ERCC6L2 Confirmed Biallelic Loss of function Bone Marrow Failure Syndrome 2
ERCC8 Confirmed Biallelic Loss of function Cockayne Syndrome Type A
ERF Confirmed Monoallelic Activating Chitayat Syndrome: Hyperphalangism, Characteristic Facies, Hallux Valgus and Bronchomalacia
ERF Confirmed Monoallelic Loss of function Complex Craniosynostosis
ESCO2 Confirmed Biallelic Loss of function Roberts Syndrome
ESCO2 Confirmed Biallelic Loss of function SC Phocomelia Syndrome
ETFA Confirmed Biallelic Loss of function Glutaric Aciduria Type 2A
ETFB Confirmed Biallelic Loss of function Glutaric Aciduria Type 2B
ETFDH Confirmed Biallelic Loss of function Glutaric Aciduria Type 2C
ETHE1 Confirmed Biallelic Loss of function Ethylmalonic Encephalopathy
EVC Confirmed Biallelic Loss of function Acrofacial Dysostosis Weyers Type
EVC Confirmed Biallelic Loss of function Ellis-Van Creveld Syndrome
EVC2 Confirmed Biallelic Loss of function Acrofacial Dysostosis Weyers Type
EVC2 Confirmed Biallelic Loss of function Ellis-Van Creveld Syndrome
EXOSC3 Confirmed Biallelic All missense/in frame Pontocerebellar Hypoplasia Type 1
EXPH5 Probable Biallelic Loss of function Inherited Skin Fragility
EXT1 Confirmed Monoallelic Loss of function Hereditary Multiple Exostoses Type 1
EXT1 Confirmed Monoallelic Loss of function Tricho-Rhino-Phalangeal Syndrome Type 2
EXT2 Confirmed Monoallelic Loss of function Exostoses, Multiple, Type 2
EYA1 Confirmed Monoallelic Loss of function Branchiootorenal Syndrome Type 1
EZH2 Confirmed Monoallelic All missense/in frame Weaver Syndrome 2
FAH Confirmed Biallelic Loss of function Tyrosinemia Type 1
FAM105B Confirmed Biallelic Loss of function Otulin-Related Auto Inflammatory Syndrome
FAM111A Confirmed Monoallelic Activating Kenny-Caffey Syndrome
FAM126A Confirmed Biallelic Loss of function Leukodystrophy Hypomyelinating Type 5
FAM134B Confirmed Biallelic Loss of function Neuropathy, Hereditary Sensory and Autonomic, Type IIb
FAM161A Both DD and IF Biallelic Loss of function Retinitis Pigmentosa 28
FAM20A Confirmed Biallelic Loss of function Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome
FAM20C Confirmed Biallelic Loss of function Raine Syndrome
FAM58A Confirmed Monoallelic Loss of function Star Syndrome
FANCA Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group A
FANCB Confirmed Hemizygous Loss of function Fancb-Related Fanconi Anemia
FANCC Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group C
FANCD2 Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group D2
FANCE Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group E
FANCF Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group F
FANCG Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group G
FANCI Confirmed Biallelic Loss of function Fanci-Related Fanconi Anemia
FANCI Confirmed Biallelic Loss of function Fanconi Anemia
FANCL Probable Biallelic Loss of function Fancl-Related Fanconi Anemia
FANCL Probable Biallelic Loss of function Fanconi Anemia
FANCM Probable Biallelic Loss of function Fancm-Related Fanconi Anemia
FANCM Probable Biallelic Loss of function Fanconi Anemia
FAR1 Confirmed Biallelic Loss of function Severe Intellectual Disability, Epilepsy, and Cataracts
FAT4 Confirmed Biallelic Loss of function Periventricular Neuronal Heterotopia
FBN1 Confirmed Biallelic Loss of function Marfan Syndrome
FBN1 Confirmed Monoallelic Dominant negative Marfan Syndrome
FBN1 Confirmed Monoallelic Loss of function Mass Syndrome/Overlap Connective Tissue Disease
FBN1 Confirmed Monoallelic Dominant negative Shprintzen-Goldberg Craniosynostosis Syndrome
FBN2 Confirmed Monoallelic Dominant negative Congenital Contractural Arachnodactyly
FBP1 Confirmed Biallelic Loss of function Fructose 1,6 Bisphosphatase Deficiency
FBXL4 Confirmed Biallelic Loss of function Fatal Encephalopathy, Lactic Acidosis, and Severe Mtdna Depletion in Muscle
FEZF1 Probable Biallelic Loss of function Hypogonadotropic Hypogonadism with or without Anosmia
FGD1 Confirmed Hemizygous Loss of function Aarskog-Scott Syndrome
FGF10 Confirmed Monoallelic Loss of function Ladd Syndrome
FGF12 Confirmed Monoallelic Activating Epileptic Encephalopathy
FGF3 Confirmed Biallelic Loss of function Deafness with Labyrinthine Aplasia, Microtia and Microdontia
FGF9 Probable Monoallelic Loss of function Multiple Synostoses Syndrome Type 3
FGFR1 Confirmed Mosaic Activating Encephalocraniocutaneous Lipomatosis
FGFR1 Confirmed Monoallelic Dominant negative Hartsfield Syndrome
FGFR1 Confirmed Monoallelic Loss of function Idiopathic Hypogonadotropic Hypogonadism
FGFR1 Confirmed Monoallelic Loss of function Kallmann Syndrome Type 2
FGFR1 Confirmed Monoallelic Activating Osteoglophonic Dysplasia
FGFR1 Confirmed Monoallelic Activating Pfeiffer Syndrome
FGFR2 Confirmed Monoallelic Activating Acrocephalosyndactyly Type V
FGFR2 Confirmed Monoallelic Uncertain Antley-Bixler Syndrome
FGFR2 Confirmed Monoallelic Activating Apert Syndrome
FGFR2 Confirmed Monoallelic Activating Beare-Stevenson Cutis Gyrata Syndrome
FGFR2 Confirmed Monoallelic Activating Crouzon Syndrome
FGFR2 Confirmed Monoallelic Uncertain Familial Scaphocephaly Syndrome
FGFR2 Confirmed Monoallelic Activating Jackson-Weiss Syndrome
FGFR2 Confirmed Monoallelic Uncertain Lacrimo-Auriculo-Dento-Digital Syndrome
FGFR3 Confirmed Monoallelic Activating Achondroplasia
FGFR3 Confirmed Monoallelic Uncertain Camptodactyly Tall Stature and Hearing Loss Syndrome
FGFR3 Confirmed Monoallelic Activating Crouzon Syndrome with Acanthosis Nigricans
FGFR3 Confirmed Monoallelic Activating Hypochondroplasia
FGFR3 Confirmed Monoallelic Uncertain Lacrimo-Auriculo-Dento-Digital Syndrome
FGFR3 Confirmed Monoallelic Activating Muenke Syndrome
FGFR3 Confirmed Monoallelic Activating Thanatophoric Dysplasia Type 1
FGFR3 Confirmed Monoallelic Activating Thanatophoric Dysplasia Type 2
FH Confirmed Biallelic Loss of function Fumarase Deficiency
FHL1 Confirmed Hemizygous Loss of function Emery-Dreifuss Muscular Dystrophy 6, X-Linked
FIG4 Probable Biallelic Loss of function Charcot-Marie-Tooth Disease, Type 4J
FIG4 Probable Biallelic Loss of function Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia Yunis-Varon Syndrome
FKBP14 Confirmed Biallelic Loss of function Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
FKRP Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A5
FKRP Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with or without Mental Retardation Type B5
FKRP Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C5
FKTN Confirmed Biallelic Loss of function Cardiomyopathy Dilated Type 1X
FKTN Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A4
FKTN Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital without Mental Retardation Type B4
FKTN Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C4
FLAD1 Confirmed Biallelic Loss of function Riboflavin-Responsive and Non-Responsive Multiple Acyl-Coa Dehydrogenase and Combined Respiratory-Chain Deficiency
FLNA Confirmed Hemizygous,mosaic Loss of function Childhood Interstitial Lung Disease
FLNA Confirmed X-linked dominant All missense/in frame Epileptic Encephalopathy
FLNA Confirmed Hemizygous Uncertain FG Syndrome Type 2
FLNA Confirmed Hemizygous Gain of function Frontometaphyseal Dysplasia
FLNA Confirmed X-linked dominant Uncertain Melnick-Needles Syndrome
FLNA Confirmed Hemizygous Uncertain Otopalatodigital Syndrome Type 1
FLNA Confirmed Hemizygous Uncertain Otopalatodigital Syndrome Type 2
FLNA Confirmed Hemizygous Loss of function Terminal Osseous Dysplasia
FLNA Confirmed Hemizygous Loss of function X-Linked Congenital Idiopathic Intestinal Pseudoobstruction
FLNB Confirmed Monoallelic Activating Atelosteogenesis Type 1
FLNB Confirmed Monoallelic Activating Atelosteogenesis Type 3
FLNB Confirmed Monoallelic Uncertain Autosomal Dominant Larsen Syndrome
FLNB Confirmed Monoallelic Uncertain Boomerang Dysplasia
FLNB Confirmed Biallelic Loss of function Spondylocarpotarsal Synostosis Syndrome
FLT4 Confirmed Monoallelic All missense/in frame Milroy Disease
FLVCR1 Confirmed Biallelic All missense/in frame Ataxia, Posterior Column, with Retinitis Pigmentosa
FLVCR2 Confirmed Biallelic Loss of function Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome
FMN2 Probable Biallelic Loss of function Nonsyndromic Autosomal-Recessive Intellectual Disability
FMR1 Confirmed Hemizygous Loss of function Fragile X Syndrome
FMR1 Both DD and IF Hemizygous Activating Fragile X Tremor/Ataxia Syndrome
FMR1 Both DD and IF X-linked dominant Uncertain Premature Ovarian Failure Syndrome Type 1
FN1 Probable Monoallelic All missense/in frame Spondylometaphyseal Dysplasia with Corner Fractures
FOLR1 Confirmed Biallelic Loss of function Neurodegeneration due to Cerebral Folate Transport Deficiency
FOXC1 Confirmed Monoallelic Loss of function Axenfeld-Rieger Syndrome Type 3
FOXC1 Confirmed Monoallelic Loss of function Iridogoniodysgenesis Anomaly
FOXC1 Confirmed Monoallelic Loss of function Peters Anomaly
FOXC2 Confirmed Monoallelic Loss of function Hereditary Lymphedema II
FOXC2 Confirmed Monoallelic Loss of function Lymphedema-Distichiasis Syndrome
FOXE1 Confirmed Biallelic All missense/in frame Bamforth-Lazarus Syndrome
FOXE3 Confirmed Monoallelic Loss of function Anterior Segment Mesenchymal Dysgenesis
FOXE3 Confirmed Biallelic Loss of function Congenital Primary Aphakia
FOXF1 Confirmed Monoallelic Loss of function Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
FOXG1 Confirmed Monoallelic Loss of function Congenital Variant of Rett Syndrome
FOXL2 Probable Monoallelic Loss of function Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
FOXN1 Confirmed Biallelic Loss of function Alopecia and T-Cell Immunodeficiency
FOXP1 Confirmed Monoallelic Loss of function Mental Retardation with Language Impairment and Autistic Features
FOXP2 Probable Monoallelic Loss of function Speech-Language Disorder 1
FOXP3 Confirmed Hemizygous Loss of function Ipex Syndrome
FOXRED1 Confirmed Biallelic Loss of function Mitochondrial Complex I Deficiency
FRAS1 Confirmed Biallelic Loss of function Fraser Syndrome
FREM1 Confirmed Biallelic Loss of function Manitoba Oculotrichoanal Syndrome
FREM2 Confirmed Biallelic Loss of function Fraser Syndrome
FRMD7 Confirmed Hemizygous Loss of function Nystagmus 1, Congenital, X-Linked
FRMPD4 Probable Hemizygous Loss of function Intellectual Disability
FRRS1L Probable Biallelic Loss of function Epileptic Encephalopathy with Continuous Spike-and-Wave during Sleep
FTCD Confirmed Biallelic Loss of function Glutamate Formiminotransferase Deficiency
FTL Confirmed Monoallelic Loss of function Hereditary Hyperferritinemia-Cataract Syndrome
FTSJ1 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 44
FUCA1 Confirmed Biallelic Loss of function Fucosidosis
FYCO1 Confirmed Biallelic Loss of function Cataract, Autosomal Recessive Congenital 2
FZD5 Probable Monoallelic Dominant negative Autosomal Dominant Coloboma
FZD6 Confirmed Biallelic Loss of function Nail Disorder Non-Syndromic Congenital Type 10
GAA Confirmed Biallelic Loss of function Glycogen Storage Disease Type II
GABRA1 Probable Monoallelic All missense/in frame Epileptic Encephalopathy
GABRA1 Probable Monoallelic Loss of function Juvenile Myoclonic Epilepsy
GABRB2 Probable Monoallelic All missense/in frame Epilepsy and Intellectual Disability
GABRB3 Confirmed Monoallelic All missense/in frame Childhood Absence Epilepsy Type 5
GABRB3 Confirmed Monoallelic All missense/in frame Epileptic Encephalopathies
GABRG2 Probable Monoallelic Loss of function Epilepsy, Generalized, with Febrile Seizures Plus, Type 3
GABRG2 Probable Monoallelic Loss of function Generalized Epilepsy with Febrile Seizures Plus, Type 3
GALC Confirmed Biallelic Loss of function Krabbe Disease
GALE Confirmed Biallelic Loss of function Epimerase-Deficiency Galactosemia
GALK1 Confirmed Biallelic Loss of function Galactosemia II
GALNS Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 4A
GALT Confirmed Biallelic Loss of function Galactosemia
GAMT Confirmed Biallelic Loss of function Guanidinoacetate Methyltransferase Deficiency
GAS8 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia
GATA2 Confirmed Monoallelic Loss of function Emberger Syndrome
GATA4 Confirmed Monoallelic Loss of function Atrial Septal Defect Type 2
GATA6 Confirmed Monoallelic All missense/in frame Atrial Septal Defect 9
GATA6 Confirmed Monoallelic All missense/in frame Atrioventricular Septal Defect 5
GATA6 Confirmed Monoallelic Loss of function Pancreatic Agenesis, Diaphragmatic Hernia and Congenital Heart Defects
GATAD2B Confirmed Monoallelic Loss of function Nonspecific Severe ID
GATM Confirmed Biallelic Loss of function Arginine:Glycine Amidinotransferase Deficiency
GBA Both DD and IF Biallelic Loss of function Gaucher Disease
GBA Both DD and IF Biallelic Loss of function Gaucher Disease Perinatal Lethal
GBA Both DD and IF Biallelic Loss of function Gaucher Disease Type 1
GBA Both DD and IF Biallelic Loss of function Gaucher Disease Type 2
GBA Both DD and IF Biallelic Loss of function Gaucher Disease Type 3
GBA Both DD and IF Biallelic Loss of function Gaucher Disease Type 3C
GBA2 Confirmed Biallelic Loss of function Autosomal-Recessive Cerebellar Ataxia with Spasticity
GCDH Confirmed Biallelic All missense/in frame Glutaricacidemia Type 1
GCH1 Confirmed Monoallelic Uncertain Dystonia Type 5
GCH1 Confirmed Biallelic Uncertain GTP Cyclohydrolase 1 Deficiency
GDF5 Confirmed Biallelic Uncertain Acromesomelic Chondrodysplasia Grebe Type
GDF5 Confirmed Biallelic Uncertain Acromesomelic Chondrodysplasia Hunter-Thompson Type
GDF5 Confirmed Monoallelic Uncertain Brachydactyly Type A1
GDF5 Confirmed Monoallelic Uncertain Brachydactyly Type A2
GDF5 Confirmed Monoallelic Uncertain Brachydactyly Type C
GDF5 Confirmed Biallelic Uncertain Du Pan Syndrome
GDF5 Confirmed Monoallelic Uncertain Multiple Synostoses Syndrome Type 2
GDF5 Confirmed Monoallelic Uncertain Symphalangism Proximal Syndrome
GDF6 Confirmed Monoallelic Uncertain Klippel-Feil Syndrome Type 1
GDF6 Confirmed Monoallelic Uncertain Microphthalmia Isolated Type 4
GDI1 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 41
GDI1 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 48
GFAP Confirmed Monoallelic Dominant negative Alexander Disease
GFM1 Confirmed Biallelic Loss of function Combined Oxidative Phosphorylation Deficiency 1
GHR Confirmed Biallelic Loss of function Pituitary Dwarfism II
GJA1 Confirmed Monoallelic Uncertain Autosomal Dominant Oculodentodigital Dysplasia
GJA1 Confirmed Biallelic Loss of function Autosomal Recessive Oculodentodigital Dysplasia
GJA1 Confirmed Biallelic All missense/in frame Hallermann-Streiff Syndrome
GJA1 Confirmed Monoallelic All missense/in frame Hypoplastic Left Heart Syndrome
GJA3 Confirmed Monoallelic Uncertain Cataract Zonular Pulverulent Cataract Type 3
GJA8 Confirmed Monoallelic Uncertain Cataract-Microcornea Syndrome
GJA8 Confirmed Monoallelic Uncertain Cataract Zonular Pulverulent Type 1
GJB2 Confirmed Monoallelic All missense/in frame Bart-Pumphrey Syndrome
GJB2 Confirmed Biallelic Loss of function Deafness Autosomal Recessive Type 1A
GJB2 Confirmed Monoallelic All missense/in frame Ichthyosis Hystrix-Like with Deafness Syndrome
GJB2 Confirmed Monoallelic All missense/in frame Palmoplantar Keratoderma with Deafness
GJB2 Confirmed Monoallelic All missense/in frame Vohwinkel Syndrome
GJB3 Both DD and IF Monoallelic Loss of function Deafness Autosomal Dominant Type 2B
GJB3 Both DD and IF Biallelic Loss of function Deafness, Autosomal Recessive
GJB3 Both DD and IF Monoallelic All missense/in frame Erythrokeratodermia Variabilis Et Progressiva
GJC2 Confirmed Biallelic All missense/in frame Leukodystrophy, Hypomyelinating, 2
GJC2 Confirmed Monoallelic All missense/in frame Lymphedema, Hereditary, IC
GJC2 Confirmed Monoallelic All missense/in frame Spastic Paraplegia, 44
GK Confirmed Hemizygous Loss of function Glycerol Kinase Deficiency
GLB1 Confirmed Biallelic Loss of function GM1-Gangliosidosis Type 1
GLB1 Confirmed Biallelic Loss of function GM1-Gangliosidosis Type 2
GLB1 Confirmed Biallelic Loss of function GM1-Gangliosidosis Type 3
GLB1 Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 4B
GLDC Confirmed Biallelic Loss of function GLDC-Related Glycine Encephalopathy
GLDN Probable Biallelic Loss of function Lethal Arthroogryposis
GLE1 Confirmed Biallelic All missense/in frame Arthrogryposis, Lethal, with Anterior Horn Cell Disease
GLI2 Confirmed Monoallelic Loss of function GLI2-Related Holoprosencephaly
GLI3 Confirmed Monoallelic Loss of function Greig Cephalopolysyndactyly Syndrome
GLI3 Confirmed Monoallelic Loss of function Pallister-Hall Syndrome
GLI3 Confirmed Monoallelic Loss of function Postaxial Polydactyly Type A
GLI3 Confirmed Monoallelic Loss of function Preaxial Polydactyly Type IV
GLIS2 Probable Biallelic Loss of function Nephronophthisis 7
GLIS3 Confirmed Biallelic Loss of function Diabetes Mellitus Neonatal with Congenital Hypothyroidism
GLMN Confirmed Monoallelic Loss of function Glomuvenous Malformations
GLUD1 Confirmed Monoallelic Activating Hyperinsulinism-Hyperammonemia Syndrome
GLUL Confirmed Biallelic Uncertain Congenital Systemic Glutamine Deficiency
GM2A Confirmed Biallelic Loss of function GM2-Gangliosidosis Type Ab
GMNN Probable Monoallelic Activating Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
GMPPA Confirmed Biallelic Loss of function Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
GMPPB Confirmed Biallelic All missense/in frame Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 14
GNA11 Probable Mosaic Activating Congenital Hemangioma
GNA14 Probable Mosaic Activating Congenital Vascular Tumours
GNAI1 Confirmed Monoallelic Loss of function GNAI1 Syndrome
GNAI3 Confirmed Monoallelic All missense/in frame Auriculocondylar Syndrome
GNAO1 Confirmed Monoallelic Loss of function Epileptic Encephalopathy
GNAQ Probable Mosaic Activating Congenital Hemangioma
GNAS Confirmed Mosaic Activating Acth-Independent Macronodular Adrenal Hyperplasia
GNAS Confirmed Monoallelic Loss of function Albright Hereditary Osteodystrophy
GNAS Confirmed Monoallelic Activating Gnas Hyperfunction
GNAS Confirmed Imprinted Loss of function Pseudohypoparathyroidism Type 1B
GNB1 Confirmed Monoallelic Activating Severe Neurodevelopmental Disability, Hypotonia, and Seizures
GNB5 Probable Biallelic Loss of function Sinus Bradycardia and Cognitive Disability
GNPAT Confirmed Biallelic Loss of function Rhizomelic Chondrodysplasia Punctata Type 2
GNPTAB Confirmed Biallelic Loss of function Mucolipidosis Type II
GNPTAB Confirmed Biallelic Loss of function Mucolipidosis Type III Complementation Group A
GNPTG Confirmed Biallelic Loss of function Mucolipidosis Type III Complementation Group C
GNS Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 3D
GORAB Confirmed Biallelic Loss of function Geroderma Osteodysplasticum
GPAA1 Probable Biallelic Loss of function Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
GPC3 Confirmed Hemizygous Loss of function Simpson-Golabi-Behmel Syndrome, Type 1
GPC6 Probable Biallelic Loss of function Omodysplasia Type 1 (OMOD1) [
GPR126 Confirmed Biallelic Loss of function Lethal Congenital Contracture Syndrome 9
GPR56 Confirmed Biallelic Loss of function Polymicrogyria
GPSM2 Confirmed Biallelic Loss of function Chudley-Mccullough Syndrome
GPX4 Probable Biallelic Loss of function Spondylometaphyseal Dysplasia, Sedaghatian Type
GRHL2 Probable Biallelic All missense/in frame Ectodermal Dysplasia/Short Stature Syndrome
GRHL3 Confirmed Monoallelic Loss of function Van Der Woude Syndrome
GRIA3 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 94
GRIK2 Confirmed Biallelic Loss of function Mental Retardation Autosomal Recessive Type 6
GRIN1 Confirmed Monoallelic All missense/in frame Epileptic Encephalopathy
GRIN2A Confirmed Monoallelic Loss of function Epilepsy with Neurodevelopmental Defects
GRIN2A Confirmed Monoallelic Loss of function Landau-Kleffner Syndrome
GRIN2B Confirmed Monoallelic Loss of function Autism
GRIN2B Confirmed Monoallelic All missense/in frame Epileptic Encephalopathy
GRIN2B Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant 6
GRIN2D Probable Monoallelic Activating Severe Epileptic Encephalopathy Treatable with Nmda Receptor Channel Blockers
GRM1 Probable Biallelic Loss of function Congenital Cerebellar Ataxia
GRM6 Confirmed Biallelic Loss of function Night Blindness, Congenital Stationary, Type 1B
GSPT2 Probable Hemizygous Loss of function XL Intellectual Disability
GTF2E2 Probable Biallelic All missense/in frame Dna Repair-Proficient Trichothiodystrophy
GTF2H5 Confirmed Biallelic Loss of function Trichothiodystrophy Photosensitive
GTPBP3 Confirmed Biallelic Loss of function Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
GUCY2C Confirmed Monoallelic Activating Familial Diarrhea Diarrhea 6
GUCY2C Confirmed Biallelic Loss of function Meconium Ileus
GUSB Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 7
GZF1 Probable Biallelic Loss of function Larsen Syndrome
HACE1 Confirmed Biallelic Loss of function HACE1 Related Disorder
HADH Confirmed Biallelic Loss of function 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
HADHA Confirmed Biallelic Loss of function Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
HAX1 Confirmed Biallelic Loss of function Neutropenia, Severe Congenital 3, Autosomal Recessive
HCCS Confirmed X-linked dominant Loss of function Microphthalmia Syndromic Type 7
HCFC1 Confirmed Hemizygous Loss of function Cobalamin Disorder
HCFC1 Confirmed Hemizygous 5_prime or 3_prime UTR mutation Mental Retardation, X-Linked 3
HCN1 Confirmed Monoallelic All missense/in frame Epileptic Encephalopathy, Early Infantile, 24
HDAC4 Confirmed Monoallelic Loss of function Brachydactyly-Mental Retardation Syndrome
HDAC8 Confirmed Hemizygous Loss of function Cornelia De Lange-Like Syndrome HDAC8 XLR
HDAC8 Confirmed X-linked dominant Loss of function Cornelia De Lange Syndrome HDAC8 X-Linked Dominant
HEATR2 Probable Biallelic All missense/in frame Ciliary Dyskinesia, Primary, 18
HECW2 Confirmed Monoallelic All missense/in frame Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language
HESX1 Probable Monoallelic Loss of function HESX1-Related Combined Pituitary Hormone Deficiency
HESX1 Probable Biallelic Loss of function Septooptic Dysplasia
HEXA Confirmed Biallelic Loss of function GM2-Gangliosidosis Type 1
HEXB Confirmed Biallelic Loss of function GM2-Gangliosidosis Type 2
HGSNAT Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 3C
HIBCH Confirmed Biallelic Loss of function Hibch Deficiency
HINT1 Confirmed Biallelic Loss of function Neuromyotonia and Axonal Neuropathy, Autosomal Recessive
HIST1H1E Probable Monoallelic Loss of function Childhood Overgrowth
HIST1H4C Probable Monoallelic All missense/in frame HIST1H4C
HIVEP2 Confirmed Monoallelic Loss of function HIVEP2 Associated Syndromic Developmental Delay with Intellectual Disability
HLCS Confirmed Biallelic Loss of function Holocarboxylase Synthetase Deficiency
HMGCL Confirmed Biallelic Loss of function 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
HMGCS2 Confirmed Biallelic All missense/in frame 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency
HMX1 Probable Biallelic Loss of function Oculoauricular Syndrome
HNF1B Confirmed Monoallelic Loss of function Renal Cysts and Diabetes Syndrome
HNF4A Confirmed Monoallelic Uncertain Atypical Dominant Fanconi Syndrome with Mody
HNF4A Confirmed Monoallelic Loss of function HNF4A-Related Maturity-Onset Diabetes of the Young Type 1
HNRNPH2 Probable X-linked dominant All missense/in frame Neurodevelopmental Disorder in Females
HNRNPU Confirmed Monoallelic Loss of function Epileptic Encephalopathy
HOXA1 Confirmed Biallelic Loss of function Athabaskan Brainstem Dysgenesis Syndrome
HOXA1 Confirmed Biallelic Loss of function Bosley-Salih-Alorainy Syndrome
HOXA13 Confirmed Monoallelic Loss of function Hand-Foot-Genital Syndrome
HOXB1 Probable Biallelic All missense/in frame Facial Paresis, Hereditary Congenital, 3
HOXC13 Confirmed Biallelic Loss of function Pure Hair and Nail Ectodermal Dysplasia
HOXD13 Confirmed Monoallelic Uncertain Brachydactyly-Syndactyly Syndrome
HOXD13 Confirmed Monoallelic Uncertain Brachydactyly Type D
HOXD13 Confirmed Monoallelic Uncertain Brachydactyly Type E
HOXD13 Confirmed Monoallelic Uncertain Syndactyly Type 5
HOXD13 Confirmed Monoallelic Uncertain Synpolydactyly 1
HOXD13 Confirmed Monoallelic Uncertain Vacterl Association
HPD Probable Monoallelic Dominant negative Hawkinsinuria
HPD Probable Biallelic Loss of function Tyrosinemia Type 3
HPGD Confirmed Biallelic Loss of function Cranioosteoarthropathy
HPRT1 Confirmed Hemizygous Loss of function Gout HPRT-Related
HPRT1 Confirmed Hemizygous Loss of function Lesch-Nyhan Syndrome
HPS1 Confirmed Biallelic Loss of function Hermansky-Pudlak Syndrome
HPSE2 Confirmed Biallelic Loss of function Urofacial Syndrome
HR Confirmed Biallelic All missense/in frame Alopecia Universalis
HR Confirmed Biallelic Loss of function Atrichia with Papular Lesions
HRAS Confirmed Monoallelic Activating Congenital Myopathy with Excess of Muscle Spindles
HRAS Confirmed Monoallelic Activating Costello Syndrome
HSD17B10 Confirmed Hemizygous All missense/in frame 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency
HSD17B10 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Type 10
HSD17B4 Confirmed Biallelic Loss of function D-Bifunctional Protein Deficiency
HSD17B4 Confirmed Biallelic Loss of function Perrault Syndrome
HSD3B7 Confirmed Biallelic Loss of function Bile Acid Synthesis Defect, Congenital, 1
HSF4 Confirmed Monoallelic Uncertain Cataract Marner Type
HSF4 Confirmed Monoallelic Uncertain Cataract Zonular HSF4-Related
HSPD1 Both DD and IF Biallelic Loss of function Leukodystrophy Hypomyelinating Type 4
HSPG2 Confirmed Biallelic Loss of function Dyssegmental Dysplasia Silverman-Handmaker Type
HSPG2 Confirmed Biallelic Loss of function Schwartz-Jampel Syndrome
HUWE1 Confirmed Hemizygous All missense/in frame Mental Retardation Syndromic X-Linked Turner Type
HYAL1 Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 9
HYDIN Confirmed Biallelic Loss of function Ciliary Dyskinesia, Primary, 5
HYLS1 Confirmed Biallelic Uncertain Hydrolethalus Syndrome Type 1
IARS Probable Biallelic Loss of function Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
IDS Confirmed Hemizygous Loss of function Mucopolysaccharidosis Type 2
IDUA Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 1H
IDUA Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 1H/S
IDUA Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 1S
IFIH1 Confirmed Monoallelic All missense/in frame Aicardi-Goutieres Syndrome 7
IFIH1 Probable Monoallelic Activating Singleton-Merten Syndrome
IFITM5 Confirmed Monoallelic 5_prime or 3_prime UTR mutation Osteogenesis Imperfecta Type V
IFT122 Confirmed Biallelic All missense/in frame Cranioectodermal Dysplasia
IFT140 Confirmed Biallelic Loss of function Mainzer-Saldino Syndrome
IFT172 Confirmed Biallelic Loss of function Jeune Syndrome
IFT172 Confirmed Biallelic Loss of function Mainzer-Saldino Syndrome
IFT43 Confirmed Biallelic All missense/in frame Cranioectodermal Dysplasia Type 3
IFT80 Confirmed Biallelic All missense/in frame Asphyxiating Thoracic Dystrophy 2
IGF1 Confirmed Biallelic Loss of function Insulin-Like Growth Factor I Deficiency
IGF1R Confirmed Biallelic Loss of function Insulin-Like Growth Factor I, Resistance to
IGF1R Confirmed Monoallelic Loss of function Insulin-Like Growth Factor I, Resistance to
IGF2 Confirmed Imprinted Activating Beckwith-Wiedemann Syndrome
IGF2 Confirmed Imprinted Loss of function Chromosome 11P15.5-Related Russell-Silver Syndrome
IGFBP7 Probable Biallelic Loss of function Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis
IGHMBP2 Confirmed Biallelic Loss of function Spinal Muscular Atrophy with Respiratory Distress 1
IGSF1 Confirmed Hemizygous Loss of function Central Hypothyroidism and Testicular Enlargement
IHH Confirmed Biallelic All missense/in frame Acrocapitofemoral Dysplasia
IHH Confirmed Monoallelic All missense/in frame Brachydactyly, Type A1
IKBKG Confirmed Hemizygous Loss of function Ectodermal Dysplasia Anhidrotic with Immunodeficiency-Osteopetrosis-Lymphedema
IKBKG Confirmed Hemizygous Loss of function Ectodermal Dysplasia Anhidrotic with Immunodeficiency X-Linked
IKBKG Confirmed Hemizygous Loss of function Immunodeficiency Nemo-Related without Anhidrotic Ectodermal Dysplasia
IKBKG Confirmed Monoallelic Loss of function Incontinentia Pigmenti
IKBKG Confirmed Hemizygous Loss of function Susceptibility to X-Linked Familial Atypical Micobacteriosis Type 1
IL11RA Confirmed Biallelic Loss of function Autosomal Recessive Craniosynostosis
IL11RA Probable Biallelic Loss of function Crouzon-Like Craniosynostosis
IL1RAPL1 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 21
IMPAD1 Confirmed Biallelic Loss of function Chondrodysplasia with Joint Dislocations, Grapp Type
INPP5E Confirmed Biallelic Uncertain Joubert Syndrome Type 1
INPP5E Confirmed Biallelic Loss of function Mental Retardation-Truncal Obesity-Retinal Dystrophy-Micropenis
INPP5K Probable Biallelic All missense/in frame Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability
INPPL1 Confirmed Biallelic Loss of function Opsismodysplasia
IQSEC2 Confirmed Hemizygous All missense/in frame Mental Retardation X-Linked Type 1
IRF6 Confirmed Monoallelic Activating Popliteal Pterygium Syndrome
IRF6 Confirmed Monoallelic Loss of function Van Der Woude Syndrome
IRX5 Probable Biallelic All missense/in frame Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility
ISPD Confirmed Biallelic Loss of function Walker Warburg Syndrome
ITCH Probable Biallelic Loss of function Autoimmune Disease, Syndromic Multisystem
ITGA3 Confirmed Biallelic Loss of function Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital
ITGA7 Confirmed Biallelic Loss of function Congenital Muscular Dystrophy
ITGA8 Probable Biallelic Loss of function Renal Hypodysplasia/Aplasia 1
ITPR1 Confirmed Biallelic Loss of function Gillespie Syndrome
ITPR1 Confirmed Monoallelic Dominant negative Gillespie Syndrome
ITPR1 Probable Monoallelic All missense/in frame Spinocerebellar Ataxia 29, Congenital Nonprogressive
ITPR1 Probable Monoallelic Loss of function Spinocerebellar Ataxia TYPE15
IVD Confirmed Biallelic Loss of function Isovaleric Acidemia
JAG1 Confirmed Monoallelic Loss of function Alagille Syndrome
JAGN1 Confirmed Biallelic Loss of function Severe Congenital Neutropenia
JAK3 Confirmed Biallelic Loss of function Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative, JAK3-Related
JAM3 Probable Biallelic Loss of function Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
KANSL1 Confirmed Monoallelic Loss of function Chromosome 17Q21.31 Microdeletion Syndrome
KARS Both DD and IF Biallelic Loss of function Charcot-Marie-Tooth Disease, Recessive Intermediate, B
KARS Both DD and IF Biallelic All missense/in frame Deafness, Autosomal Recessive 89
KAT6A Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant 32
KAT6B Confirmed Monoallelic Loss of function Blepharophimosis/Intellectual Disability Phenotype which is Noonan-Like
KAT6B Confirmed Monoallelic Dominant negative Genitopatellar Syndrome
KBTBD13 Confirmed Monoallelic All missense/in frame Nemaline Myopathy 6
KCNA2 Confirmed Monoallelic Activating Epileptic Encephalopathy Gain-of-Function
KCNA2 Confirmed Monoallelic Loss of function Epileptic Encephalopathy Loss-of-Function
KCNB1 Confirmed Monoallelic All missense/in frame Epileptic Encephalopathy, Early Infantile, 26
KCNC1 Confirmed Monoallelic Activating Epilepsy, Progressive Myoclonic 7
KCNC3 Probable Monoallelic All missense/in frame Spinocerebellar Ataxia Type 13
KCNE1 Both DD and IF Biallelic All missense/in frame Jervell and Lange-Nielsen Syndrome Type 2
KCNH1 Probable Monoallelic Activating Temple Barraister Syndrome
KCNJ10 Confirmed Biallelic Loss of function Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance
KCNJ11 Confirmed Monoallelic Activating Diabetes Mellitus, KCNJ11-Related Transient Neonatal
KCNJ11 Confirmed Biallelic Loss of function Familial Hyperinsulinism
KCNJ6 Probable Monoallelic All missense/in frame Keppen-Lubinsky Syndrome
KCNQ1 Confirmed Biallelic Loss of function Jervell and Lange-Nielsen Syndrome Type 1
KCNQ2 Confirmed Monoallelic Loss of function Benign Neonatal Epilepsy Type 1
KCNQ2 Confirmed Monoallelic Loss of function Epileptic Encephalopathy Early Infantile Type 7
KCNQ3 Confirmed Monoallelic All missense/in frame KCNQ3 Syndrome
KCNQ5 Probable Monoallelic Activating Intellectual Disability with or without Epileptic Encephalopathy
KCNQ5 Probable Monoallelic Loss of function Intellectual Disability with or without Epileptic Encephalopathy
KCNT1 Confirmed Monoallelic Activating Malignant Migrating Partial Seizures of Infancy
KCNT1 Confirmed Monoallelic All missense/in frame Severe Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
KCTD1 Confirmed Monoallelic Activating Scalp-Ear-Nipple Syndrome
KCTD7 Confirmed Biallelic All missense/in frame Neuronal Ceroid Lipofuscinosis
KCTD7 Confirmed Biallelic Loss of function Progressive Myoclonic Epilepsy Type 3
KDM1A Probable Monoallelic Uncertain Developmental Delay and Distinctive Facial Features
KDM5C Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked JARID1C-Related
KDM6A Confirmed X-linked dominant Loss of function Kabuki Syndrome 2
KIAA0586 Confirmed Biallelic Loss of function Joubert Syndrome
KIAA1109 Probable Biallelic All missense/in frame Brain Atrophy, Dandy Walker and Contractures
KIAA1279 Confirmed Biallelic Loss of function Goldberg-Shprintzen Megacolon Syndrome
KIAA2022 Probable X-linked dominant Loss of function Intellectual Disability and Epilepsy
KIDINS220 Probable Monoallelic Loss of function Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity
KIF11 Confirmed Monoallelic Loss of function Autosomal-Dominant Microcephaly Associated with Lymphedema and/or Chorioretinopathy
KIF1A Confirmed Monoallelic All missense/in frame Mental Retardation, Autosomal Dominant 9
KIF1A Confirmed Biallelic Loss of function Neuropathy, Hereditary Sensory, Type IIC
KIF22 Confirmed Monoallelic Activating Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2
KIF2A Probable Monoallelic Dominant negative Malformations of Cortical Development and Microcephaly
KIF5C Probable Monoallelic All missense/in frame Cortical Dysplasia, Complex, with other Brain Malformations 2
KIF7 Confirmed Biallelic Loss of function Acrocallosal Syndrome
KIF7 Confirmed Biallelic All missense/in frame Autosomal Recessive Mental Retardation
KIT Both DD and IF Monoallelic Loss of function Human Piebaldism
KLF1 Confirmed Monoallelic Dominant negative Anemia, Dyserythropoietic Congenital, Type IV
KLHL40 Confirmed Biallelic Loss of function Nemaline Myopathy 8, Autosomal Recessive
KLHL7 Probable Biallelic Uncertain Cold-Induced Sweating Syndrome Type 1 (CISS1-Like Phenotype Associated with Early-Onset Retinitis Pigmentosa
KLHL7 Probable Crisponi/CISS1-Like Phenotype Associated with Early-Onset Retinitis Pigmentosa
KMT2A Confirmed Monoallelic Loss of function Wiedemann-Steiner Syndrome
KMT2B Probable Monoallelic Loss of function Complex Early-Onset Dystonia
KMT2C Probable Monoallelic Loss of function Intellectual Disability
KMT2D Confirmed Monoallelic Loss of function Kabuki Syndrome
KMT2E Confirmed Monoallelic Loss of function Intellectual Disability
KPTN Probable Biallelic Loss of function Macrocephaly, Neurodevelopmental Delay, and Seizures
KRAS Confirmed Monoallelic Activating Cardiofaciocutaneous Syndrome
KRAS Confirmed Monoallelic Activating Noonan Syndrome Type 3
KRIT1 Both DD and IF Monoallelic Loss of function Cerebral Cavernous Malformations Type 1
KRT74 Probable Monoallelic All missense/in frame Hypotrichosis Simplex of the Scalp 2
L1CAM Confirmed Hemizygous Loss of function Hydrocephalus due to Stenosis of the Aqueduct of Sylvius
L1CAM Confirmed Hemizygous Loss of function Mental Retardation-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
L1CAM Confirmed Hemizygous Loss of function Partial Agenesis of the Corpus Callosum
L1CAM Confirmed Hemizygous Loss of function Spastic Paraplegia X-Linked Type 1
L2HGDH Confirmed Biallelic Loss of function L-2-Hydroxyglutaric Aciduria
LAMA1 Confirmed Biallelic Loss of function Autosomal Recessive Mental Retardation
LAMA1 Confirmed Biallelic Loss of function Cerebellar Dysplasia with Cysts with or without Retinal Dystrophy
LAMA2 Confirmed Biallelic Loss of function Congenital Muscular Dystrophy
LAMB1 Probable Biallelic Loss of function Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
LAMC3 Confirmed Biallelic Loss of function Occipital Cortical Malformations
LAMP2 Confirmed Hemizygous Loss of function Danon Disease
LARGE Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B6
LARP7 Confirmed Biallelic Loss of function Alazami Syndrome
LARS2 Probable Biallelic All missense/in frame Perrault Syndrome
LBR Confirmed Biallelic Loss of function Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
LDB3 Both DD and IF Monoallelic All missense/in frame Cardiomyopathy Dilated Type 1C
LDB3 Both DD and IF Monoallelic All missense/in frame Left Ventricular Non-Compaction Type 3
LDB3 Both DD and IF Monoallelic All missense/in frame Myopathy Myofibrillar Type 4
LEMD3 Confirmed Monoallelic Loss of function Buschke-Ollendorff Syndrome
LEMD3 Confirmed Monoallelic Loss of function Melorheostosis
LEPRE1 Confirmed Biallelic Loss of function Osteogenesis Imperfecta, Type VIII
LFNG Confirmed Biallelic Uncertain Spondylocostal Dysostosis Type 3
LGI4 Probable Biallelic Loss of function Arthrogryposis Multiplex Congenita
LHX3 Confirmed Biallelic Loss of function Pituitary Hormone Deficiency Combined Type 3
LHX4 Confirmed Monoallelic Loss of function LHX4-Related Combined Pituitary Hormone Deficiency
LIAS Probable Biallelic All missense/in frame Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
LIG4 Confirmed Biallelic Loss of function LIG4 Syndrome
LIG4 Confirmed Biallelic Loss of function Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/NK-Cell-Positive with Sensitivity to Ionizing Radiation
LINS Probable Biallelic Loss of function Autosomal Recessive Mental Retardation
LIPN Probable Biallelic Loss of function Ichthyosis, Lamellar, 4
LIPT1 Probable Biallelic All missense/in frame Leigh Syndrome with Secondary Deficiency for Pyruvate and Alpha-Ketoglutarate Dehydrogenase
LIPT2 Probable Biallelic All missense/in frame Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
LMBRD1 Confirmed Biallelic Loss of function Methylmalonic Aciduria and Homocystinuria Type CBLF
LMNA Both DD and IF Monoallelic Uncertain Cardiomyopathy Dilated Type 1A
LMNA Both DD and IF Monoallelic Uncertain Cardiomyopathy Dilated with Hypergonadotropic Hypogonadism
LMNA Both DD and IF Biallelic Uncertain Charcot-Marie-Tooth Disease Type 2B1
LMNA Both DD and IF Monoallelic Loss of function Emery-Dreifuss Muscular Dystrophy Type 2
LMNA Both DD and IF Monoallelic Uncertain Familial Partial Lipodystrophy Type 2
LMNA Both DD and IF Monoallelic Uncertain Heart-Hand Syndrome Slovenian Type
LMNA Both DD and IF Monoallelic Activating Hutchinson-Gilford Progeria Syndrome
LMNA Both DD and IF Monoallelic Activating Lethal Tight Skin Contracture Syndrome
LMNA Both DD and IF Monoallelic Uncertain Limb-Girdle Muscular Dystrophy Type 1B
LMNA Both DD and IF Monoallelic Uncertain Mandibuloacral Dysplasia with Type A Lipodystrophy
LMNA Both DD and IF Monoallelic Uncertain Muscular Dystrophy Congenital Lmna-Related
LMX1B Confirmed Monoallelic Loss of function Nail-Patella Syndrome
LONP1 Probable Biallelic All missense/in frame Codas Syndrome
LRAT Probable Biallelic Loss of function Leber Congenital Amaurosis
LRBA Probable Biallelic Loss of function Childhood-Onset Hypogammaglobulinemia
LRIG2 Probable Biallelic Loss of function Urofacial Syndrome
LRIT3 Probable Biallelic Loss of function Autosomal-Recessive Complete Congenital Stationary Night Blindness
LRP2 Confirmed Biallelic Loss of function Donnai-Barrow Syndrome
LRP4 Confirmed Biallelic Loss of function Cenani-Lenz Syndactyly Syndrome
LRP5 Confirmed Monoallelic Activating Endosteal Hyperostosis Worth Type
LRP5 Confirmed Monoallelic Activating High Bone Mass Trait
LRP5 Confirmed Monoallelic Uncertain Osteopetrosis Autosomal Dominant Type 1
LRP5 Confirmed Biallelic Loss of function Osteoporosis-Pseudoglioma Syndrome
LRP5 Confirmed Monoallelic Loss of function Vitreoretinopathy Exudative Type 4
LRPPRC Confirmed Biallelic Loss of function Leigh Syndrome, French-Canadian Type
LRRC56 Probable Mucociliary Clearance and Laterality Defects
LRRC6 Confirmed Biallelic Loss of function Primary Ciliary Diskinesia
LTBP2 Confirmed Biallelic Loss of function Microspherophakia
LTBP2 Confirmed Biallelic Loss of function Primary Congenital Glaucoma Type 3D
LTBP3 Confirmed Biallelic Loss of function Platyspondyly with Amelogenesis Imperfecta
LYST Confirmed Biallelic Loss of function Chediak-Higashi Syndrome
LZTR1 Probable Biallelic,monoallelic Uncertain Noonan Syndrome
MAB21L2 Confirmed Biallelic Loss of function Microphthalmia, Syndromic 14
MAB21L2 Confirmed Monoallelic Activating Microphthalmia, Syndromic 14
MAF Confirmed Monoallelic All missense/in frame Ayme-Gripp Syndrome: Cataract, Deafness, Intellectual Disability, Seizures, and A Down Syndrome-Like Facies
MAF Confirmed Monoallelic Uncertain Cataract Congenital Cerulean Type 4
MAF Confirmed Monoallelic Uncertain Cataract Pulverulent Juvenile-Onset Maf-Related
MAFB Probable Monoallelic Loss of function Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
MAFB Confirmed Monoallelic Activating Multicentric Carpotarsal Osteolysis Syndrome
MAGEL2 Probable Imprinted Loss of function Arthrogryposis Multiplex Congenita
MAGEL2 Confirmed Imprinted Loss of function Schaaf-Yang Syndrome
MAMLD1 Probable Hemizygous Loss of function X-Linked Hypospadias Type 2
MAN1B1 Confirmed Biallelic All missense/in frame Autosomal Recessive Mental Retardation
MAN2B1 Confirmed Biallelic Loss of function Lysosomal Alpha-Mannosidosis
MANBA Confirmed Biallelic Loss of function Lysosomal Beta-Mannosidosis
MAOA Probable Hemizygous Loss of function Brunner Syndrome
MAP2K1 Confirmed Monoallelic Activating Cardiofaciocutaneous Syndrome
MAP2K2 Confirmed Monoallelic Activating Cardiofaciocutaneous Syndrome
MAP3K1 Confirmed Monoallelic Loss of function 46XY Sex Reversal 6
MAP3K7 Probable Monoallelic All missense/in frame Cardiospondylocarpofacial Syndrome
MAP3K7 Probable Monoallelic All missense/in frame Frontometaphyseal Dysplasia
MAPRE2 Confirmed Biallelic All missense/in frame Circumferential Skin Creases Kunze Type
MASP1 Confirmed Biallelic Loss of function 3MC Syndrome 1
MAT1A Probable Biallelic Loss of function Methionine Adenosyltransferase Deficiency
MATN3 Confirmed Monoallelic All missense/in frame Multiple Epiphyseal Dysplasia Type 5
MBOAT7 Probable Biallelic Loss of function Intellectual Disability Accompanied by Epilepsy and Autistic Features
MC2R Confirmed Biallelic Loss of function Glucocorticoid Deficiency 1
MCCC1 Confirmed Biallelic Loss of function 3-Methylcrotonyl-Coa Carboxylase Deficiency
MCCC2 Confirmed Biallelic Loss of function 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
MCEE Confirmed Biallelic Loss of function Methylmalonyl-Coa Epimerase Deficiency
MCOLN1 Confirmed Biallelic Loss of function Mucolipidosis IV
MCPH1 Confirmed Biallelic Loss of function Microcephaly Primary Type 1
MDH2 Probable Biallelic Loss of function Early-Onset Severe Encephalopathy
MECOM Probable Monoallelic Activating Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
MECP2 Confirmed Hemizygous Increased gene dosage Chromosome XQ28 Duplication Syndrome
MECP2 Confirmed Hemizygous Loss of function Encephalopathy Neonatal Severe due to MECP2 Mutations
MECP2 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Lubs Type
MECP2 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Type 13
MECP2 Confirmed X-linked dominant Loss of function Rett Syndrome (RTT)[
MECR Probable Biallelic Loss of function Childhood-Onset Dystonia and Optic Atrophy
MED12 Confirmed Hemizygous Uncertain Lujan-Fryns Syndrome
MED12 Confirmed Hemizygous Uncertain Opitz-Kaveggia Syndrome
MED13L Probable Monoallelic Loss of function Intellectual Disability
MED17 Probable Biallelic All missense/in frame Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy
MEF2C Confirmed Monoallelic Loss of function Mental Retardation-Stereotypic Movements-Epilepsy and/or Cerebral Malformations
MEGF10 Confirmed Biallelic Loss of function Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia
MEGF8 Confirmed Biallelic Loss of function Carpenter Syndrome
MEOX1 Probable Biallelic Loss of function Klippel-Feil Anomaly
MESP2 Confirmed Biallelic Loss of function Spondylocostal Dysostosis Type 2
MFRP Confirmed Biallelic Loss of function Microphthalmia Isolated Type 5
MFRP Confirmed Biallelic Loss of function Nanophthalmos 2
MFSD2A Confirmed Biallelic All missense/in frame Microcephaly 15, Primary, Autosomal Recessive
MFSD8 Confirmed Biallelic Loss of function MFSD8-Related Neuronal Ceroid-Lipofuscinosis
MGAT2 Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation Type 2A
MGP Confirmed Biallelic Loss of function Keutel Syndrome
MICU1 Confirmed Biallelic Loss of function Myopathy with Extrapyramidal Signs
MID1 Confirmed Hemizygous Loss of function Opitz G/BBB Syndrome, X-Linked
MIR17HG Probable Monoallelic Loss of function Feingold Syndrome
MITF Probable Biallelic Loss of function Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
MITF Confirmed Monoallelic Uncertain Tietz Syndrome
MITF Confirmed Monoallelic Loss of function Waardenburg Syndrome Type 2A
MITF Confirmed Monoallelic Loss of function Waardenburg Syndrome Type 2 with Ocular Albinism
MKKS Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 6
MKKS Confirmed Biallelic Loss of function Mckusick-Kaufman Syndrome
MKS1 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 13
MKS1 Confirmed Biallelic Loss of function Meckel Syndrome Type 1
MLC1 Confirmed Biallelic Loss of function Leukoencephalopathy Megalencephalic with Subcortical Cysts
MLYCD Confirmed Biallelic Loss of function Malonyl-Coa Decarboxylase Deficiency
MMAA Confirmed Biallelic Loss of function Methylmalonic Aciduria Type Cbla
MMAB Confirmed Biallelic Loss of function Methylmalonic Aciduria Type CBLB
MMACHC Confirmed Biallelic Loss of function Methylmalonic Aciduria and Homocystinuria, CBLC Type
MMADHC Confirmed Biallelic Loss of function Methylmalonic Aciduria and Homocystinuria Type CBLD
MMP13 Confirmed Biallelic All missense/in frame Metaphyseal Anadysplasia Type 1
MMP13 Confirmed Monoallelic All missense/in frame Spondyloepimetaphyseal Dysplasia Missouri Type
MMP21 Confirmed Biallelic Loss of function MMP21-Associated Heterotaxy
MNX1 Confirmed Monoallelic Loss of function Currarino Syndrome
MOCS1 Confirmed Biallelic Loss of function Molybdenum Cofactor Deficiency
MOCS2 Confirmed Biallelic Loss of function Molybdenum Cofactor Deficiency
MOGS Probable Biallelic All missense/in frame Congenital Disorders of Glycosylation
MPDU1 Confirmed Biallelic Loss of function Congenital Disorders of Glycosylation
MPI Confirmed Biallelic Loss of function Congenital Disorders of Glycosylation
MPLKIP Confirmed Biallelic Loss of function Trichothiodystrophy Non-Photosensitive Type 1
MPV17 Confirmed Biallelic Loss of function Mitochondrial Dna Depletion Syndrome 6
MRE11A Confirmed Biallelic Loss of function Ataxia Telangiectasia-Like Disorder
MRPS22 Probable Biallelic All missense/in frame Combined Oxidative Phosphorylation Deficiency 5
MRPS34 Probable Biallelic Loss of function Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
MSL3 Confirmed X-linked dominant Loss of function MSL3 Syndrome
MSX1 Confirmed Monoallelic Loss of function Cleft Lip +/-Cleft Palate
MSX2 Confirmed Monoallelic All missense/in frame Craniosynostosis, Type 2
MSX2 Confirmed Monoallelic Loss of function Enlarged Parietal Foramina/Cranium Bifidum
MTHFR Confirmed Biallelic Loss of function Methylenetetrahydrofolate Reductase Deficiency
MTM1 Confirmed Hemizygous Loss of function Myotubular Myopathy, X-Linked
MTO1 Confirmed Biallelic Loss of function Infantile Hypertrophic Cardiomyopathy and Lactic Acidosis
MTOR Confirmed Monoallelic All missense/in frame Smith-Kingsmore Syndrome
MTR Confirmed Biallelic Loss of function Methylcobalamin Deficiency Type G
MTRR Confirmed Biallelic Loss of function Homocystinuria-Megaloblastic Anemia, CBL E Type
MT-TP Confirmed Mitochondrial Loss of function Merrf
MUT Confirmed Biallelic Loss of function Methylmalonic Aciduria Type Mut
MYCN Confirmed Monoallelic Loss of function Feingold Syndrome Type 1
MYH3 Confirmed Monoallelic Uncertain Distal Arthrogryposis Type 2A
MYH3 Confirmed Monoallelic Uncertain Distal Arthrogryposis Type 2B
MYH6 Both DD and IF Monoallelic Uncertain Atrial Septal Defect Type 3
MYH6 Both DD and IF Monoallelic Uncertain Cardiomyopathy Dilated Type 1EE
MYH6 Both DD and IF Monoallelic Uncertain Cardiomyopathy Familial Hypertrophic Type 14
MYH8 Both DD and IF Monoallelic All missense/in frame Carney Complex Variant
MYH8 Both DD and IF Monoallelic Loss of function Distal Arthrogryposis Type
MYH9 Confirmed Monoallelic Uncertain Deafness Autosomal Dominant Type 17
MYH9 Confirmed Monoallelic Uncertain Epstein Syndrome
MYH9 Confirmed Monoallelic Uncertain Fechtner Syndrome
MYH9 Confirmed Monoallelic Loss of function Macrothrombocytopenia with Progressive Sensorineural Deafness
MYH9 Confirmed Monoallelic Loss of function May-Hegglin Anomaly
MYH9 Confirmed Monoallelic Loss of function Sebastian Syndrome
MYLK Probable Biallelic Loss of function Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
MYO5A Confirmed Biallelic Loss of function Elejalde Syndrome
MYO5A Confirmed Biallelic Loss of function Griscelli Syndrome Type 3
MYO5B Confirmed Biallelic Loss of function Microvillus Inclusion Disease
MYO7A Both DD and IF Biallelic Loss of function Deafness Autosomal Recessive Type 2
MYO7A Both DD and IF Biallelic Loss of function Usher Syndrome Type 1B
MYT1L Confirmed Monoallelic Loss of function MYT1L Syndrome
NAA10 Confirmed X-linked dominant All missense/in frame Nonpecific Severe ID
NAA10 Confirmed Hemizygous All missense/in frame Ogden Syndrome
NAA10 Confirmed Hemizygous Loss of function X-Linked Anophthalmia Syndrome
NAA10 Confirmed Hemizygous Loss of function X-Linked Anophthalmia Syndrome/Lenz
NAA15 Probable Monoallelic Loss of function Congenital Heart Disease and Neurodevelopmental Disorder
NACC1 Confirmed Monoallelic Activating Infantile Epilepsy, Cataracts, and Profound Developmental Delay
NAGA Confirmed Biallelic Loss of function Kanzaki Disease
NAGA Confirmed Biallelic Loss of function Schindler Disease
NAGLU Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 3B
NAGS Confirmed Biallelic Loss of function N-Acetylglutamate Synthase Deficiency
NALCN Confirmed Monoallelic All missense/in frame Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
NALCN Confirmed Biallelic Loss of function Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies
NALCN Confirmed Biallelic Loss of function Severe Hypotonia, Speech Impairment, and Cognitive Delay
NANS Confirmed Biallelic Loss of function Infantile-Onset Severe Developmental Delay and Skeletal Dysplasia
NBAS Confirmed Biallelic Loss of function Acute Liver Failure (ALF) in Infancy and Childhood
NBN Confirmed Biallelic Loss of function Nijmegen Breakage Syndrome
NDE1 Confirmed Biallelic Loss of function Lissencephaly 4
NDP Confirmed Hemizygous Loss of function Norrie Disease
NDUFA1 Confirmed Hemizygous Loss of function Mitochondrial Respiratory Chain Complex I Deficiency
NDUFA10 Probable Biallelic All missense/in frame Leigh Syndrome Dup
NDUFAF2 Probable Biallelic Loss of function Leigh Syndrome
NDUFB11 Probable X-linked dominant Loss of function Microphthalmia with Linear Skin Defects Syndrome
NDUFS1 Confirmed Biallelic Loss of function Leigh Syndrome
NDUFS1 Confirmed Biallelic All missense/in frame Mitochondrial Respiratory Chain Complex I Deficiency
NDUFS4 Confirmed Biallelic Loss of function Leigh Syndrome
NDUFS4 Confirmed Biallelic Loss of function Leigh Syndrome Dup
NDUFS4 Confirmed Biallelic Loss of function Mitochondrial Respiratory Chain Complex I Deficiency
NDUFS7 Confirmed Biallelic Loss of function Mitochondrial Respiratory Chain Complex I Deficiency
NDUFS8 Confirmed Biallelic All missense/in frame Mitochondrial Respiratory Chain Complex I Deficiency
NDUFV1 Confirmed Biallelic All missense/in frame Mitochondrial Complex I Deficiency
NEB Confirmed Biallelic Loss of function Autosomal Recessive Typical Nemaline Myopathy
NEDD4L Probable Monoallelic All missense/in frame Periventricular Nodular Heterotopia with ID, Cleft Palate and 2.3 Toe Syndactyly
NEK1 Confirmed Biallelic Loss of function Short Rib-Polydactyly Syndorme, Type II
NEK1 Confirmed Digenic Loss of function Short Rib-Polydactyly Syndorme, Type II
NEK8 Probable Biallelic All missense/in frame Nephronophthisis 9
NEK8 Probable Biallelic Loss of function Renal-Hepatic-Pancreatic Dysplasia 2
NEU1 Confirmed Biallelic Loss of function Sialidosis
NF1 Confirmed Monoallelic Loss of function Familial Spinal Neurofibromatosis
NF1 Confirmed Monoallelic Loss of function Neurofibromatosis-Noonan Syndrome
NF1 Confirmed Monoallelic Loss of function Neurofibromatosis Type 1
NF1 Confirmed Monoallelic Loss of function Watson Syndrome
NFIA Probable Monoallelic Loss of function Macrocephaly with Intellectual Disability
NFIB Probable Monoallelic Loss of function Intellectual Disability with Macrocephaly
NFIX Confirmed Monoallelic Loss of function Marshall-Smith Syndrome
NFIX Confirmed Monoallelic Loss of function Sotos-Like Syndrome
NFU1 Confirmed Biallelic All missense/in frame Multiple Mitochondrial Dysfunctions Syndrome 1
NGLY1 Confirmed Biallelic Loss of function Congenital Disorder of Deglycosylation
NHP2 Probable Biallelic All missense/in frame Dyskeratosis Congenita, Autosomal Recessive 2
NHS Confirmed Hemizygous Loss of function Cataract Congenital X-Linked
NHS Confirmed Hemizygous Loss of function Nance-Horan Syndrome
NIPBL Confirmed Monoallelic Loss of function Cornelia De Lange Syndrome Type 1
NKX2-1 Confirmed Monoallelic Loss of function Benign Hereditary Chorea
NKX2-1 Confirmed Monoallelic Loss of function Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress
NKX2-5 Confirmed Monoallelic Loss of function Atrial Septal Defect with Atrioventricular Conduction Defects
NKX2-5 Confirmed Monoallelic Uncertain Congenital Hypothyroidism Non-Goitrous Type 5
NKX2-5 Confirmed Monoallelic Uncertain Tetralogy of Fallot
NKX3-2 Confirmed Biallelic Loss of function Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
NKX6-2 Probable Biallelic Loss of function Progressive Spastic Ataxia and Hypomyelination
NLGN3 Probable Hemizygous Loss of function Autism Spectrum Disorders
NMNAT1 Confirmed Biallelic Loss of function Leber Congenital Amaurosis
NODAL Confirmed Monoallelic Loss of function Heterotaxy Syndrome
NOG Confirmed Monoallelic Uncertain Brachydactyly Type B2
NOG Confirmed Monoallelic Loss of function Multiple Synostoses Syndrome Type 1
NOG Confirmed Monoallelic Uncertain Stapes Ankylosis with Broad Thumb and Toes
NOG Confirmed Monoallelic Loss of function Symphalangism Proximal Syndrome
NOG Confirmed Monoallelic Uncertain Tarsal-Carpal Coalition Syndrome
NONO Probable Hemizygous Loss of function Syndromic Intellectual Disability
NOTCH1 Probable Monoallelic Loss of function Adams Oliver Syndrome
NOTCH1 Probable Monoallelic Loss of function Left Ventricular Outflow Tract Obstruction
NOTCH2 Confirmed Monoallelic Activating Hajdu-Cheney Syndrome
NOVA2 Probable Monoallelic Loss of function Intellectual Disability with Ataxia/Spasticity
NPC1 Confirmed Biallelic Loss of function Niemann-Pick Disease, Type C1
NPC2 Confirmed Biallelic Loss of function Niemann-Pick Disease, Type C2
NPHP1 Confirmed Biallelic Loss of function Joubert Syndrome Type 4
NPHP1 Confirmed Biallelic Loss of function Nephronophthisis Type 1
NPHP1 Confirmed Biallelic Loss of function Senior-Loken Syndrome Type 1
NPHP3 Confirmed Biallelic Loss of function Meckel Syndrome Type 7
NPHP3 Confirmed Biallelic Loss of function Nephronophthisis Type 3
NPHP3 Confirmed Biallelic Loss of function Renal-Hepatic-Pancreatic Dysplasia
NPHP4 Confirmed Biallelic Loss of function Nephronophthisis Type 4
NPHS1 Confirmed Biallelic Loss of function Nephrotic Syndrome Type 1
NPHS2 Confirmed Biallelic Loss of function Nephrotic Syndrome, Type 2
NPR2 Confirmed Biallelic Loss of function Acromesomelic Dysplasia Maroteaux Type
NR2F1 Confirmed Monoallelic Loss of function Bosch-Boonstra Optic Atrophy Syndrome
NR2F2 Confirmed Monoallelic Loss of function Congenital Heart Defects, Multiple Types, 4
NR5A1 Both DD and IF Monoallelic All missense/in frame 46XY Sex Reversal 3
NR5A1 Both DD and IF Monoallelic All missense/in frame Spermatogenic Failure 8
NRAS Confirmed Monoallelic Activating Noonan Syndrome Type 6
NRXN1 Probable Monoallelic Loss of function Autism
NRXN1 Probable Biallelic Loss of function Pitt Hopkins 2
NRXN2 Probable Monoallelic Loss of function Autism
NSD1 Confirmed Monoallelic Uncertain Beckwith-Wiedemann Syndrome
NSD1 Confirmed Monoallelic Loss of function Sotos Syndrome
NSD1 Confirmed Monoallelic Loss of function Weaver Syndrome
NSDHL Confirmed Hemizygous Loss of function CK Syndrome
NSDHL Confirmed X-linked dominant Loss of function Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
NSUN2 Probable Biallelic All missense/in frame Autosomal-Recessive Intellectual Disability MRT5
NT5C3A Confirmed Biallelic Loss of function Hemolytic Anemia due to UMPH1 Deficiency
NTRK1 Confirmed Biallelic Loss of function Congenital Insensitivity to Pain with Anhidrosis
NTRK2 Probable Monoallelic All missense/in frame Epilepsy and Intellectual Disability
NUBPL Confirmed Biallelic Loss of function Mitochondrial Complex I Deficiency
NUP107 Confirmed Biallelic Loss of function Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
NUP62 Probable Biallelic Uncertain Infantile Striatonigral Degeneration
NUS1 Probable Monoallelic Loss of function Epilepsy and Intellectual Disability
NYX Confirmed Hemizygous Loss of function Night Blindness, Congenital Stationary, Type 1A
OBFC1 Probable Biallelic Loss of function Cerebroretinal Microangiopathy with Calcifications and Cysts 2
OBSL1 Confirmed Biallelic Loss of function 3-M Syndrome 2
OCRL Confirmed Hemizygous Uncertain Dent Disease Type 2
OCRL Confirmed Hemizygous Loss of function Lowe Oculocerebrorenal Syndrome
OFD1 Confirmed Hemizygous Loss of function Joubert Syndrome Type 10
OFD1 Confirmed X-linked dominant Loss of function Oral-Facial-Digital Syndrome Type 1
OFD1 Confirmed Hemizygous Loss of function Simpson-Golabi-Behmel Syndrome Type 2
OPHN1 Confirmed Hemizygous Loss of function Mental Retardation X-Linked OPHN1-Related
ORC1 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome 1
ORC4 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome 2
ORC6 Confirmed Biallelic Loss of function Meier-Gorlin Syndrome 3
OSGEP Probable Biallelic All missense/in frame Nephrotic Syndrome with Primary Microcephaly
OTC Confirmed Hemizygous Loss of function Ornithine Transcarbamylase Deficiency
OTOGL Confirmed Biallelic Loss of function Moderate Sensorineural Hearing Loss
OTUD6B Probable Biallelic Loss of function Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
OTX2 Confirmed Monoallelic Loss of function Microphthalmia Syndromic Type 5
OXCT1 Confirmed Biallelic Loss of function Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency
P4HB Probable Monoallelic All missense/in frame Cole-Carpenter Syndrome
PACS1 Probable Monoallelic Activating Intellectual Disability
PAFAH1B1 Confirmed Monoallelic Loss of function Lissencephaly Type 1
PAFAH1B1 Confirmed Monoallelic Loss of function Subcortical Band Heterotopia
PAH Confirmed Biallelic Loss of function Non-Phenylketonuria Hyperphenylalaninemia
PAH Confirmed Biallelic Loss of function Phenylketonuria
PAK3 Confirmed Hemizygous Activating Agenesis of the Corpus Callosum
PAK3 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 30
PALB2 Confirmed Biallelic Loss of function Fanconi Anemia, Complementation Group N
PAPSS2 Confirmed Biallelic Loss of function Spondyloepimetaphyseal Dysplasia Pakistani Type
PARN Confirmed Biallelic Loss of function Dyskeratosis Congenita, Autosomal Recessive 6
PAX2 Confirmed Monoallelic Loss of function Renal-Coloboma Syndrome
PAX3 Confirmed Monoallelic Loss of function Craniofacial-Deafness-Hand Syndrome
PAX3 Confirmed Monoallelic Loss of function Waardenburg Syndrome, Type 1
PAX6 Confirmed Monoallelic Loss of function Aniridia
PAX6 Confirmed Monoallelic Loss of function Aniridia Cerebellar Ataxia and Mental Deficiency
PAX6 Confirmed Monoallelic Loss of function Bilateral Optic Nerve Hypoplasia
PAX6 Confirmed Monoallelic Loss of function Coloboma of Optic Nerve
PAX6 Confirmed Monoallelic Loss of function Foveal Hypoplasia
PAX6 Confirmed Monoallelic Loss of function Keratitis Hereditary
PAX6 Confirmed Monoallelic Uncertain Peters Anomaly
PAX8 Confirmed Monoallelic Loss of function Congenital Hypothyroidism Non-Goitrous Type 2
PAX9 Confirmed Monoallelic Loss of function Tooth Agenesis, Selective, 3
PC Confirmed Biallelic Loss of function Pyruvate Carboxylase Deficiency
PCBD1 Confirmed Biallelic Loss of function Hyperphenylalaninemia, BH4-Deficient, D
PCCA Confirmed Biallelic Loss of function Propionic Acidemia
PCCB Confirmed Biallelic Loss of function Propionic Acidemia
PCDH19 Confirmed X-linked over-dominance Loss of function Epileptic Encephalopathy Early Infantile Type 9
PCGF2 Probable Monoallelic Activating Intellectual Dusbility
PCNT Confirmed Biallelic Loss of function Microcephalic Osteodysplastic Primordial Dwarfism, Type II
PCYT1A Confirmed Biallelic Loss of function Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
PDCD10 Both DD and IF Monoallelic Loss of function Cerebral Cavernous Malformations Type 3
PDE10A Probable Monoallelic All missense/in frame Childhood-Onset Chorea with Bilateral Striatal Lesions
PDE4D Confirmed Monoallelic Activating Acrodysostosis
PDE6G Confirmed Biallelic Loss of function Retinitis Pigmentosa 57
PDE6H Probable Biallelic Loss of function Achromatopsia
PDE6H Probable Biallelic 5_prime or 3_prime UTR mutation Retinal Cone Dystrophy 3 PDE6H
PDGFRB Confirmed Monoallelic Activating Familial Infantile Myofibromatosis
PDGFRB Confirmed Monoallelic Activating Premature Aging Syndrome, Penttinen Type
PDHA1 Confirmed Hemizygous Loss of function Intellectual Disabiltiy
PDHA1 Confirmed X-linked dominant Loss of function Pyruvate Dehydrogenase E1-Alpha Deficiency in Females
PDHA1 Confirmed Hemizygous All missense/in frame X-Linked Leigh Syndrome
PDHX Confirmed Biallelic Loss of function Lacticacidemia due to PDX1 Deficiency
PDSS1 Probable Biallelic All missense/in frame Coenzyme Q10 Deficiency, Primary, 2
PDSS2 Confirmed Biallelic Loss of function Coenzyme Q10 Deficiency, Primary, 3
PEPD Confirmed Biallelic Loss of function Prolidase Deficiency
PET100 Probable Biallelic Loss of function Mitochondrial Complex IV Deficiency
PEX1 Confirmed Biallelic Loss of function Adrenoleukodystrophy Neonatal
PEX1 Confirmed Biallelic Loss of function Infantile Refsum Disease
PEX1 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 1
PEX10 Confirmed Biallelic Loss of function Adrenoleukodystrophy Neonatal
PEX10 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 7
PEX10 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX11B Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder 14B
PEX12 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 3
PEX12 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX13 Confirmed Biallelic Loss of function Adrenoleukodystrophy Neonatal
PEX13 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 13
PEX14 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group K
PEX14 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX16 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 9
PEX16 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX19 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 14
PEX19 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX2 Confirmed Biallelic Loss of function Infantile Refsum Disease
PEX2 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 5
PEX2 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX26 Confirmed Biallelic Loss of function Adrenoleukodystrophy Neonatal
PEX26 Confirmed Biallelic Loss of function Infantile Refsum Disease
PEX26 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 8
PEX26 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX3 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 12
PEX3 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX5 Confirmed Biallelic Loss of function Adrenoleukodystrophy Neonatal
PEX5 Confirmed Biallelic Loss of function Infantile Refsum Disease
PEX5 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX6 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 4
PEX6 Confirmed Biallelic Loss of function Zellweger Syndrome
PEX7 Confirmed Biallelic Loss of function Peroxisome Biogenesis Disorder Complementation Group 11
PEX7 Confirmed Biallelic Loss of function Refsum Disease
PEX7 Confirmed Biallelic Loss of function Rhizomelic Chondrodysplasia Punctata Type 1
PGAP1 Probable Biallelic Loss of function Intellectual Disability, Encephalopathy, Impaired Gpi-Anchor Maturation
PGAP2 Confirmed Biallelic All missense/in frame Intellectual Disability
PGAP3 Confirmed Biallelic Loss of function Hyperphosphatasia with Mental Retardation Syndrome 4
PGK1 Confirmed Hemizygous Loss of function Phosphoglycerate Kinase 1 Deficiency
PGM1 Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation, Type It
PGM3 Confirmed Biallelic Loss of function Immunodeficiency 23
PHACTR1 Probable Monoallelic Dominant negative PHACTR1-Associated Neurodevelopment Disorder
PHF21A Probable Monoallelic Loss of function Potocki-Shaffer Syndrome
PHF6 Confirmed Hemizygous Loss of function Boerjeson-Forssman-Lehmann Syndrome
PHF8 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Siderius Type
PHGDH Confirmed Biallelic Loss of function Neu-Laxova Syndrome
PHGDH Confirmed Biallelic Loss of function Phosphoglycerate Dehydrogenase Deficiency
PHIP Confirmed Monoallelic Loss of function Developmental Delay, ID, Obesity and Dysmorphic Features
PHOX2B Confirmed Monoallelic Uncertain Central Hypoventilation Syndrome, Congenital, with or without Hirschsprung Disease
PHOX2B Confirmed Monoallelic Uncertain Neuroblastoma with Hirschsprung Disease
PIEZO1 Probable Biallelic Loss of function Congenital Lymphatic Dysplasia with Hydrops and/or Lymphoedema
PIEZO2 Confirmed Monoallelic Loss of function Arthrogryposis, Distal, Type 3
PIEZO2 Confirmed Biallelic Loss of function Ataxia, Dysmetria, Contractures & Scoliosis with Normal Cognition but Loss of Discriminative Touch Perception
PIGA Confirmed Hemizygous Loss of function Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
PIGG Probable Biallelic Loss of function Intellectual Disability with Seizures and Hypotonia
PIGL Confirmed Biallelic Loss of function Zunich Neuroectodermal Syndrome
PIGN Probable Biallelic All missense/in frame Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
PIGO Confirmed Biallelic Loss of function Hyperphosphatasia with Mental Retardation Syndrome 2
PIGT Confirmed Biallelic All missense/in frame Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
PIGV Confirmed Biallelic All missense/in frame Hyperphosphatasia with Mental Retardation
PIGY Probable Biallelic All missense/in frame Glycosylphosphatidylinositol Deficiency
PIK3CA Confirmed Mosaic Activating Cloves: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
PIK3CA Confirmed Mosaic Activating Hemimegalencephaly PIK3CA
PIK3CA Confirmed Mosaic Activating Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 3
PIK3R1 Confirmed Biallelic Loss of function Agammaglobulinemia 7, Autosomal Recessive
PIK3R1 Confirmed Monoallelic All missense/in frame Short Syndrome
PIK3R2 Confirmed Monoallelic Activating Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
PITX1 Probable Monoallelic Loss of function Congenital Clubfoot
PITX1 Probable Monoallelic Cis-regulatory or promotor mutation Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
PITX2 Confirmed Monoallelic Loss of function Axenfeld-Rieger Syndrome Type 1
PITX2 Confirmed Monoallelic Loss of function Iridogoniodysgenesis Type 2
PITX2 Confirmed Monoallelic Loss of function Peters Anomaly
PITX2 Confirmed Monoallelic Uncertain Ring Dermoid of Cornea
PITX3 Confirmed Monoallelic Loss of function Anterior Segment Mesenchymal Dysgenesis
PITX3 Confirmed Monoallelic Uncertain Cataract Autosomal Dominant
PITX3 Confirmed Monoallelic Loss of function Cataract Posterior Polar Type 4
PKD1L1 Confirmed Biallelic Loss of function Laterality Defects
PKHD1 Confirmed Biallelic Loss of function Polycystic Kidney Disease, Autosomal Recessive
PLA2G6 Both DD and IF Biallelic Loss of function Infantile Neuroaxonal Dystrophy 1
PLA2G6 Both DD and IF Biallelic Loss of function Neurodegeneration with Brain Iron Accumulation 2B
PLAA Probable Biallelic Loss of function Lethal Infantile Epileptic Encephalopathy
PLCB1 Probable Biallelic Loss of function Epileptic Encephalopathy, Early Infantile, 12
PLCB4 Probable Monoallelic All missense/in frame Auriculocondylar Syndrome
PLCE1 Confirmed Biallelic Loss of function Nephrotic Syndrome, Type 3
PLK4 Confirmed Biallelic Loss of function Microcephaly, Growth Failure and Retinopathy
PLOD1 Confirmed Biallelic Loss of function Ehlers-Danlos Syndrome, Kyphoscoliotic Form
PLOD2 Confirmed Biallelic Loss of function Bruck Syndrome Type 2
PLP1 Confirmed Hemizygous Loss of function Leukodystrophy Hypomyelinating Type 1
PLP1 Confirmed Hemizygous Uncertain Spastic Paraplegia X-Linked Type 2
PMM2 Confirmed Biallelic Loss of function Congenital Disorders of Glycosylation
PMS2 Confirmed Biallelic Loss of function Mismatch Repair Cancer Syndrome
PNKP Confirmed Biallelic Loss of function Ataxia-Oculomotor Apraxia 4
PNKP Confirmed Biallelic Loss of function Epileptic Encephalopathy, Early Infantile, 10
PNPLA1 Probable Biallelic All missense/in frame Congenital Ichthyosis
PNPLA2 Probable Biallelic Loss of function Neutral Lipid Storage Disease with Myopathy
PNPT1 Confirmed Biallelic All missense/in frame Hearing Loss
PNPT1 Confirmed Biallelic Loss of function Respiratory Chain Disorder
POC1A Confirmed Biallelic Loss of function Primordial Dwarfism
POC1A Confirmed Biallelic Loss of function Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome
POC1B Confirmed Biallelic Loss of function Autosomal-Recessive Cone-Rod Dystrophy
POGZ Confirmed Monoallelic Loss of function Intellectual Disability
POLD1 Both DD and IF Monoallelic All missense/in frame Subcutaneous Lipodystrophy, Deafness, Mandibular Hypoplasia and Male Hypogonadism
POLG Confirmed Biallelic All missense/in frame Mitochondrial Dna Depletion Syndrome 4A
POLR1A Probable Monoallelic Loss of function Acrofacial Dysostosis, Cincinnati Type
POLR1C Confirmed Biallelic Loss of function Treacher Collins Syndrome Type 3
POLR1D Confirmed Monoallelic Loss of function Treacher Collins Syndrome Type 2
POLR3A Confirmed Biallelic Loss of function Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
POLR3B Confirmed Biallelic All missense/in frame Autosomal Recessive Mental Retardation
POLR3B Confirmed Biallelic Loss of function Leukodystrophy, Hypomyelinating, 8, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
POMGNT1 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 (MDDGA3
POMGNT1 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3
POMGNT1 Confirmed Biallelic Uncertain Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3
POMGNT2 Confirmed Biallelic Loss of function Walker Warberg Syndrome
POMT1 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A1
POMT1 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B1
POMT1 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C1
POMT2 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2
POMT2 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B2
POMT2 Confirmed Biallelic Loss of function Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2
PORCN Confirmed X-linked dominant Loss of function Focal Dermal Hypoplasia
POU1F1 Confirmed Biallelic Loss of function POU1F1-Related Combined Pituitary Hormone Deficiency
PPA2 Confirmed Biallelic All missense/in frame Sudden Arrhythmic Cardiac Death after Infectious or Alcohol Trigger
PPM1D Confirmed Monoallelic Loss of function PPM1D Syndrome
PPP1CB Confirmed Monoallelic All missense/in frame Rasopathy with Developmental Delay, Short Stature and Sparse Slow-Growing Hair
PPP2R1A Confirmed Monoallelic Dominant negative Intellectual Disability
PPP2R5D Confirmed Monoallelic Dominant negative Intellectual Disability
PPP3CA Probable Monoallelic All missense/in frame Severe Neurodevelopmental Disease with Seizures
PPT1 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 1
PQBP1 Confirmed Hemizygous Loss of function Renpenning S(Yndrome 1
PRDM12 Confirmed Biallelic Loss of function Hereditary Sensory & Autonomic Neuropathy Type VIII
PREPL Probable Biallelic Loss of function Hypotonia-Cystinuria Syndrome
PRKAR1A Confirmed Monoallelic Activating Acrodysostosis
PRKD1 Confirmed Monoallelic All missense/in frame Syndromic Congenital Heart Defects
PRMT7 Confirmed Biallelic Loss of function Pseudohypoparathyroidism-Like Disorder
PROP1 Confirmed Biallelic Loss of function PROP1-Related Combined Pituitary Hormone Deficiency
PROSC Probable Biallelic Loss of function Vitamin-B6-Dependent Epilepsy
PRPS1 Confirmed Hemizygous Loss of function Arts Syndrome
PRPS1 Confirmed Hemizygous Loss of function Charcot-Marie-Tooth Disease X-Linked Recessive Type 5
PRPS1 Confirmed Hemizygous Uncertain Deafness X-Linked Type 1
PRPS1 Confirmed Hemizygous Activating Phosphoribosylpyrophosphate Synthetase Superactivity
PRRT2 Confirmed Biallelic Loss of function Autosomal Recessive Mental Retardation
PRRT2 Confirmed Monoallelic Loss of function Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
PRSS12 Confirmed Biallelic Loss of function Mental Retardation Autosomal Recessive Type 1
PRSS56 Confirmed Biallelic Loss of function Microphthalmia Isolated Type 6
PRUNE Probable Biallelic Loss of function Peho Like Condition
PSAP Confirmed Biallelic Loss of function Atypical Krabbe Disease
PSAT1 Probable Biallelic Loss of function Neu-Laxova Syndrome
PSAT1 Probable Biallelic Loss of function Phosphoserine Aminotransferase Deficiency
PSMB8 Confirmed Biallelic All missense/in frame Nakajo Syndrome
PSPH Confirmed Biallelic Loss of function Neu-Laxova
PSPH Confirmed Biallelic All missense/in frame Phosphoserine Phosphatase Deficiency
PTCH1 Confirmed Monoallelic Loss of function Basal Cell Nevus Syndrome
PTCH1 Confirmed Monoallelic Uncertain Holoprosencephaly-7
PTCHD1 Confirmed Hemizygous Loss of function Autism/ID
PTDSS1 Confirmed Monoallelic Activating Lenz-Majewski Hyperostotic Dwarfism
PTEN Confirmed Monoallelic Loss of function Bannayan-Zonana Syndrome
PTEN Confirmed Monoallelic Loss of function Cowden Disease
PTEN Confirmed Monoallelic Loss of function Lhermitte-Duclos Disease
PTEN Confirmed Monoallelic Uncertain Macrocephaly/Autism Syndrome
PTEN Confirmed Mosaic Loss of function Proteus Syndrome
PTEN Confirmed Monoallelic Uncertain Vacterl Association with Hydrocephalus
PTF1A Confirmed Biallelic Loss of function Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
PTF1A Confirmed Biallelic Cis-regulatory or promotor mutation Pancreatic Agenesis
PTH Probable Biallelic Loss of function Familial Isolated Hypoparathyroidism
PTH1R Confirmed Biallelic Loss of function Chondrodysplasia Blomstrand Type
PTH1R Confirmed Biallelic Loss of function Eiken Skeletal Dysplasia
PTH1R Confirmed Monoallelic Activating Jansen Metaphyseal Chondrodysplasia
PTH1R Confirmed Monoallelic Loss of function Primary Failure of Tooth Eruption
PTHLH Confirmed Monoallelic Loss of function Brachydactyly, Type E2
PTHLH Confirmed Monoallelic Increased gene dosage Clubbing with Skeletal Dysplasia Inc Acroosteolysis
PTPN11 Confirmed Monoallelic All missense/in frame Leopard Syndrome Type 1
PTPN11 Confirmed Monoallelic Activating Noonan Syndrome 1
PTPN14 Probable Biallelic Loss of function Choanal Atresia and Lymphedema
PTS Confirmed Biallelic Loss of function 6-Pyruvoyltetrahydropterin Synthase Deficiency
PUF60 Confirmed Monoallelic Loss of function PUF60 Syndrome
PURA Confirmed Monoallelic Loss of function Intellectual Disability
PVRL4 Confirmed Biallelic Loss of function Ectodermal Dysplasia-Syndactyly Syndrome 1
PXDN Probable Biallelic Loss of function Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
PYCR1 Confirmed Biallelic Loss of function Cutis Laxa, Autosomal Recessive, Type IIb
PYCR2 Probable Biallelic All missense/in frame Postnatal Microcephaly, Hypomyelination, and Reduced Cerebral White-Matter Volume
PYGL Confirmed Biallelic Loss of function Glycogen Storage Disease Type VI
PYROXD1 Probable Biallelic Loss of function Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
QARS Probable Biallelic All missense/in frame Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy
QDPR Confirmed Biallelic Loss of function BH4-Deficient Hyperphenylalaninemia C
QRICH1 Confirmed Monoallelic Loss of function QRICH1 Syndrome
RAB11A Probable Monoallelic All missense/in frame Epilepsy and Intellectual Disability
RAB11B Probable Monoallelic All missense/in frame Intellectual Disability
RAB18 Confirmed Biallelic Loss of function Warburg Micro Syndrome Type 3
RAB23 Confirmed Biallelic Loss of function Acrocephalopolysyndactyly Type 2
RAB39B Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 72 (MRX72) +/-Parkinsons
RAB3GAP1 Confirmed Biallelic Loss of function Warburg Micro Syndrome Type 1
RAB3GAP2 Confirmed Biallelic Loss of function Martsolf Syndrome
RAC1 Probable Monoallelic All missense/in frame Developmental Disorders with Diverse Phenotypes
RAC3 Probable Monoallelic All missense/in frame Neurodevelopment Disorder
RAD21 Confirmed Monoallelic Loss of function Cohesinopathy
RAD51 Probable Monoallelic Loss of function Mirror Movements 2
RAD51C Probable Biallelic All missense/in frame Fanconi Anemia, Complementation Group 0
RAF1 Confirmed Monoallelic Activating Noonan Syndrome 5
RAI1 Confirmed Monoallelic Loss of function Smith-Magenis Syndrome
RAPSN Confirmed Biallelic Loss of function Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency
RAPSN Confirmed Biallelic Loss of function Fetal Akinesia Deformation Sequence
RARB Confirmed Biallelic Loss of function Microphthalmia and Diaphragmatic Hernia
RARB Confirmed Monoallelic Dominant negative Microphthalmia and Diaphragmatic Hernia
RARS2 Confirmed Biallelic Loss of function Pontocerebellar Hypoplasia Type 6
RASA1 Confirmed Monoallelic Loss of function Capillary Malformation-Arteriovenous Malformation
RASA1 Confirmed Monoallelic Loss of function Parkes Weber Syndrome
RAX Confirmed Biallelic Loss of function Microphthalmia Isolated Type 3
RBM10 Probable Hemizygous Loss of function Tarp Syndrome
RBM8A Confirmed Biallelic Loss of function Thrombocytopenia-Absent Radius Syndrome
RBPJ Probable Monoallelic All missense/in frame Adams Oliver Syndrome
RECQL4 Confirmed Biallelic Loss of function Baller-Gerold Syndrome
RECQL4 Confirmed Biallelic Loss of function Rapadilino Syndrome
RECQL4 Confirmed Biallelic Loss of function Rothmund-Thomson Syndrome
RELN Confirmed Biallelic Loss of function Lissencephaly 2
RERE Confirmed Monoallelic Loss of function Phenocopy of Proximal 1P36 Deletions
RET Both DD and IF Monoallelic Activating Multiple Endocrine Neoplasia IIb
RET Both DD and IF Biallelic Loss of function Renal Agenesis
RFT1 Probable Biallelic Loss of function Congenital Disorder of Glycosylation Type 1N
RFX6 Confirmed Biallelic Loss of function Martinez-Frias Syndrome
RIN2 Probable Biallelic Loss of function Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis
RIPK4 Confirmed Biallelic Loss of function Popliteal Pterygium Syndrome, Lethal Type
RIT1 Confirmed Monoallelic Activating Noonan Syndrome 8
RLIM Probable Hemizygous All missense/in frame Intellectual Disability
RMND1 Probable Biallelic All missense/in frame Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and A Mitochondrial Translation Defect
RMRP Confirmed Biallelic Loss of function Cartilage-Hair Hypoplasia
RNASEH2A Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome 4
RNASEH2B Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome 2
RNASEH2C Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome 3
RNASET2 Confirmed Biallelic Loss of function Leukoencephalopathy, Cystic, without Megalencephaly
RNU4ATAC Confirmed Biallelic Uncertain Microcephalic Osteodysplastic Primordial Dwarfism, Type I
ROBO3 Confirmed Biallelic Loss of function Familial Horizontal Gaze Palsy with Progressive Scoliosis
ROGDI Confirmed Biallelic Loss of function Kohlschtter-TNZ Syndrome
ROR2 Confirmed Monoallelic Loss of function Brachydactyly, Type B1
ROR2 Confirmed Monoallelic Loss of function Robinow Syndrome, Autosomal Dominant
ROR2 Confirmed Biallelic Loss of function ROR2-Related Disorders Ar
RORA Probable Monoallelic Loss of function Intellectual Disability
RPE65 Confirmed Biallelic Loss of function Leber Congenital Amaurosis
RPGRIP1 Confirmed Biallelic All missense/in frame Cone-Rod Dystrophy 13
RPGRIP1 Confirmed Biallelic Loss of function Leber Congenital Amaurosis 6
RPGRIP1L Confirmed Biallelic Loss of function Coach Syndrome
RPGRIP1L Confirmed Biallelic Loss of function Joubert Syndrome Type 7
RPGRIP1L Confirmed Biallelic Loss of function Meckel Syndrome Type 5
RPL11 Confirmed Diamond-Blackfan Anemia with Cleft Palate and Abnormal Thumbs
RPS19 Confirmed Monoallelic Loss of function RPS19-Related Diamond-Blackfan Anemia
RPS23 Probable Monoallelic All missense/in frame Microcephaly, Hearing Loss, and Dysmorphic Features
RPS6KA3 Confirmed X-linked dominant Loss of function Coffin-Lowry Syndrome 2 RPS6KA3 XLD
RPS6KA3 Confirmed Hemizygous Loss of function Coffin-Lowry Syndrome 2 RPS6KA3 XLR
RRAS Probable Monoallelic Activating Atypical Noonan Syndrome
RRM2B Both DD and IF Biallelic Loss of function Mitochondrial Depletion Syndrome
RSPH1 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
RSPH3 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia with Central-Complex Defects
RSPO2 Probable Biallelic Loss of function Tetra-Amelia with Lung Agenesis
RSPO4 Confirmed Biallelic Loss of function Anonychia Congenita
RSPRY1 Probable Biallelic Loss of function Progressive Spondyloepimetaphyseal Dysplasia
RTEL1 Confirmed Biallelic Loss of function Dyskeratosis Congenita, Autosomal Dominant 4
RTEL1 Confirmed Biallelic Loss of function Dyskeratosis Congenita, Autosomal Recessive 5
RTN4IP1 Confirmed Biallelic Loss of function Early-Onset Recessive Optic Neuropathy
RTTN Confirmed Biallelic All missense/in frame Bilateral Diffuse Polymicrogyria
RUNX2 Confirmed Monoallelic Loss of function Cleidocranial Dysplasia
RYR1 Confirmed Biallelic Loss of function Minicore Myopathy with External Ophthalmoplegia
SACS Probable Biallelic Loss of function Spastic Ataxia, Charlevoix-Saguenay Type
SALL1 Confirmed Monoallelic Loss of function Townes-Brocks Syndrome
SALL4 Confirmed Monoallelic Loss of function Acro-Renal-Ocular Syndrome
SALL4 Confirmed Monoallelic Loss of function Duane-Radial Ray Syndrome
SAMD9 Confirmed Mirage-Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, Enteropathy
SAMHD1 Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome
SATB2 Confirmed Monoallelic Loss of function Cleft Palate Isolated
SATB2 Confirmed Monoallelic Loss of function Nonspecific Severe ID
SATB2 Confirmed Monoallelic Loss of function Syndromal Pierre Robin Sequence
SBDS Confirmed Biallelic Loss of function Shwachman-Diamond Syndrome
SC5D Confirmed Biallelic Uncertain Lathosterolosis
SCARF2 Confirmed Biallelic Loss of function Van Den Ende-Gupta Syndrome
SCN11A Confirmed Monoallelic Activating Congenital Inability to Experience Pain
SCN1A Confirmed Monoallelic Loss of function SCN1A-Related Seizure Disorders
SCN1B Confirmed Monoallelic Loss of function Brugada Syndrome 5
SCN1B Confirmed Monoallelic Loss of function Epilepsy, Generalized, with Febrile Seizures Plus, Type 1
SCN2A Confirmed Monoallelic Loss of function Benign Familial Neonatal Infantile Seizures
SCN2A Confirmed Monoallelic All missense/in frame Infantile Epileptic Encephalopathy
SCN2A Confirmed Monoallelic Loss of function Nonspecific Severe ID
SCN3A Probable Monoallelic All missense/in frame Focal Epilepsy
SCN4A Confirmed Monoallelic Activating Hyperkalemic Periodic Paralysis Type 1
SCN4A Confirmed Monoallelic All missense/in frame Hypokalemic Periodic Paralysis
SCN4A Confirmed Monoallelic All missense/in frame Paramyotonia Congenita of Von Eulenburg
SCN8A Confirmed Monoallelic Loss of function Cognitive Impairment with or without Cerebellar Ataxia
SCN8A Confirmed Monoallelic Dominant negative Epileptic Encephalopathy, Early Infantile, 13
SCO1 Confirmed Biallelic Loss of function Mitochondrial Complex IV Deficiency
SCO2 Confirmed Biallelic Loss of function Fatal Infantile Cardioencephalomyopathy due to Cytochrome C Oxidase Deficiency
SCYL1 Probable Biallelic Loss of function Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
SDCCAG8 Confirmed Biallelic Loss of function Senior-Loken Syndrome 7
SDHA Confirmed Biallelic All missense/in frame Leigh Syndrome
SDHAF1 Confirmed Biallelic All missense/in frame Mitochondrial Complex II Deficiency
SEC23B Confirmed Biallelic Loss of function Anemia, Dyserythropoietic Congenital, Type II
SEC24D Probable Biallelic Loss of function Syndromic Osteogenesis Imperfecta
SECISBP2 Probable Biallelic Loss of function Thyroid Hormone Metabolism, Abnormal
SET Probable Monoallelic Loss of function Set Syndrome
SETBP1 Confirmed Monoallelic Loss of function Developmental and Expressive Language Delay
SETBP1 Confirmed Monoallelic Activating Schinzel-Giedion Midface Retraction Syndrome
SETD1A Probable Monoallelic Loss of function Intellectual Disability
SETD2 Probable Monoallelic Loss of function SETD2-Associated Overgrowth Syndrome
SETD5 Confirmed Monoallelic Loss of function Mental Retardation, Autosomal Dominant 23
SF3B4 Confirmed Monoallelic Loss of function Acrofacial Dysostosis 1, Nager Type
SGSH Confirmed Biallelic Loss of function Mucopolysaccharidosis Type 3A
SH3PXD2B Confirmed Biallelic Loss of function Frank-Ter Haar Syndrome
SHANK1 Probable Monoallelic Loss of function Autism
SHANK2 Probable Monoallelic Loss of function Susceptibility to Autism Type 17
SHANK3 Probable Monoallelic Loss of function Phelan-Mcdermid Syndrome
SHH Confirmed Monoallelic Loss of function Holoprosencephaly Type 3
SHH Confirmed Monoallelic Uncertain Microphthalmia Isolated with Coloboma Type 5
SHH Confirmed Monoallelic Loss of function Solitary Median Maxillary Central Incisor
SHH Confirmed Monoallelic Cis-regulatory or promotor mutation Triphalangeal Thumb-Polysyndactyly Syndrome
SHOC2 Confirmed Monoallelic Activating Noonan-Like Syndrome with Loose Anagen Hair
SHOX Confirmed Biallelic Loss of function Langer Mesomelic Dysplasia
SHOX Confirmed Monoallelic Loss of function Leri-Weill Dyschondrosteosis
SHROOM3 Probable Monoallelic Loss of function Neural Tube Defect
SIK1 Confirmed Monoallelic Activating Neonatal Epilepsy Spectrum
SIL1 Confirmed Biallelic Loss of function Marinesco-Sjoegren Syndrome
SIN3A Probable Monoallelic Loss of function Syndromic Intellectual Disability
SIX1 Confirmed Monoallelic All missense/in frame Branchiootic Syndrome Type 3
SIX1 Confirmed Monoallelic All missense/in frame Deafness Autosomal Dominant Type 23
SIX1 Probable Monoallelic Loss of function Non-Syndromic Craniosynostosis
SIX3 Confirmed Monoallelic Loss of function Holoprosencephaly
SIX5 Confirmed Monoallelic All missense/in frame Branchiootorenal Syndrome Type 2
SKI Confirmed Monoallelic All missense/in frame Shprintzen-Goldberg Craniosynostosis Syndrome
SKIV2L Confirmed Biallelic Loss of function Trichohepatoenteric Syndrome 2
SLC10A7 Confirmed Biallelic Loss of function Chondrodysplasia with Multiple Dislocations and Amelogenesis Imperfecta
SLC12A6 Confirmed Biallelic Loss of function Agenesis of the Corpus Callosum with Peripheral Neuropathy
SLC13A5 Confirmed Biallelic Loss of function Epileptic Encephalopathy with Seizure Onset in the First Days of Life
SLC16A2 Confirmed Hemizygous Loss of function MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
SLC17A5 Confirmed Biallelic Loss of function Infantile Sialic Acid Storage Disorder
SLC17A5 Confirmed Biallelic Loss of function Salla Disease
SLC19A3 Confirmed Biallelic Loss of function Thiamine Metabolism Dysfunction Syndrome 2
SLC1A2 Probable Monoallelic All missense/in frame Epileptic Encephalopathy
SLC22A5 Confirmed Biallelic Loss of function Systemic Primary Carnitine Deficiency
SLC24A4 Probable Biallelic Loss of function Amelogenesis Imperfecta
SLC25A15 Confirmed Biallelic Loss of function Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
SLC25A19 Probable Biallelic All missense/in frame Amish Lethal Microcephaly
SLC25A20 Confirmed Biallelic Loss of function Carnitine-Acylcarnitine Translocase Deficiency
SLC25A22 Probable Biallelic All missense/in frame Epileptic Encephalopathy, Early Infantile, 3
SLC25A24 Confirmed Monoallelic All missense/in frame Gorlin-Chaudhry-Moss Syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
SLC25A26 Confirmed Biallelic Loss of function Intra-Mitochondrial Methylation Deficiency
SLC25A38 Confirmed Biallelic Loss of function Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
SLC25A4 Probable Monoallelic All missense/in frame Fontaine Progeroid Syndrome
SLC25A4 Probable Monoallelic All missense/in frame Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial Dna Copy Number
SLC26A2 Confirmed Biallelic Loss of function Achondrogenesis Type 1B
SLC26A2 Confirmed Biallelic Loss of function Atelosteogenesis Type 2
SLC26A2 Confirmed Biallelic Loss of function Diastrophic Dysplasia
SLC26A2 Confirmed Biallelic All missense/in frame Multiple Epiphyseal Dysplasia Type 4
SLC27A4 Confirmed Biallelic Loss of function Ichthyosis Prematurity Syndrome
SLC2A1 Confirmed Monoallelic Loss of function GLUT1 Deficiency Syndrome Type 1
SLC2A1 Confirmed Monoallelic Loss of function GLUT1 Deficiency Syndrome Type 2
SLC2A10 Confirmed Biallelic Loss of function Arterial Tortuosity Syndrome
SLC2A2 Confirmed Biallelic Loss of function Fanconi-Bickel Syndrome
SLC33A1 Confirmed Biallelic Loss of function Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
SLC35A1 Probable Biallelic Loss of function Congenital Disorders of Glycosylation
SLC35A2 Confirmed Monoallelic Loss of function Congenital Disorder of Glycosylation
SLC35C1 Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation Type 2C
SLC35D1 Confirmed Biallelic Loss of function Schneckenbecken Dysplasia
SLC39A13 Confirmed Biallelic All missense/in frame Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia
SLC39A13 Confirmed Biallelic Loss of function Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
SLC39A8 Confirmed Biallelic All missense/in frame Intellectual Disability with Cerebellar Atrophy
SLC45A1 Probable Biallelic All missense/in frame Intellectual Disability and Epilepsy
SLC46A1 Confirmed Biallelic Loss of function Hereditary Folate Malabsorption
SLC4A1 Both DD and IF Monoallelic All missense/in frame Renal Tubular Acidosis, Distal, Ad
SLC4A1 Both DD and IF Biallelic All missense/in frame Renal Tubular Acidosis, Distal, Ar
SLC4A11 Both DD and IF Biallelic Loss of function Corneal Dystrophy, Fuchs Endothelial, 4
SLC4A4 Confirmed Biallelic Loss of function Proximal Renal Tubular Acidosis with Ocular Abnormalities
SLC52A2 Confirmed Biallelic Loss of function Brown-Vialetto-Van Laere Syndrome 2
SLC52A3 Confirmed Biallelic Loss of function Brown-Vialetto-Van Laere Syndrome
SLC5A5 Confirmed Biallelic Loss of function Thyroid Hormonogenesis Defect I
SLC5A7 Probable Biallelic All missense/in frame Congenital Myasthenic Syndrome with Episodic Apnea
SLC6A1 Confirmed Monoallelic Loss of function Epilepsy with Myoclonic-Atonic Seizures
SLC6A17 Probable Biallelic All missense/in frame Mental Retardation, Autosomal Recessive 48
SLC6A3 Confirmed Biallelic Loss of function Parkinsonism-Dystonia, Infantile
SLC6A5 Confirmed Biallelic Loss of function Hyperekplexia
SLC6A8 Confirmed Hemizygous Loss of function X-Linked Creatine Deficiency Syndrome
SLC6A9 Probable Biallelic Loss of function Glycine Encephalopathy with Arthrogryposis
SLC9A6 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Christianson Type
SLX4 Confirmed Biallelic Loss of function Fanconi Anemia Complementation Group P
SMAD3 Confirmed Monoallelic Loss of function SMAD3-Related Loeys-Dietz Syndrome
SMAD4 Both DD and IF Monoallelic Loss of function Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
SMAD4 Both DD and IF Monoallelic Loss of function Juvenile Polyposis Syndrome
SMAD4 Confirmed Monoallelic Activating Myhre Syndrome
SMAD6 Probable Monoallelic Loss of function Non-Syndromic Craniosynostosis
SMARCA2 Confirmed Monoallelic All missense/in frame Coffin Siris
SMARCA2 Confirmed Monoallelic All missense/in frame Nicolaides-Baraitser Syndrome
SMARCA4 Confirmed Monoallelic Loss of function Coffin Siris
SMARCA4 Confirmed Monoallelic Loss of function Rhabdoid Tumor Predisposition Syndrome 2
SMARCAL1 Confirmed Biallelic Loss of function Schimke Immunoosseous Dysplasia
SMARCB1 Confirmed Monoallelic All missense/in frame EHMT1-Like Syndrome
SMARCB1 Confirmed Monoallelic Loss of function Rhabdoid Predisposition Syndrome 1
SMARCE1 Probable Monoallelic All missense/in frame Coffin Siris
SMC1A Confirmed X-linked dominant All missense/in frame Cornelia De Lange Syndrome Type 2
SMC1A Confirmed X-linked dominant Loss of function Epileptic Encephalopathy
SMC3 Confirmed Monoallelic Uncertain Cornelia De Lange Syndrome Type 3
SMCHD1 Both DD and IF Monoallelic All missense/in frame Isolated Arhinia/Bosma Arhinia Syndrome
SMG9 Probable Biallelic Loss of function SMG9 Multiple Congenital Anomaly Syndrome
SMO Confirmed Mosaic Activating Curry-Jones Syndrome
SMOC1 Confirmed Biallelic Loss of function Ophthalmoacromelic Syndrome
SMOC2 Probable Biallelic Loss of function Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth
SMPD1 Confirmed Biallelic Loss of function Niemann-Pick Disease Type A
SMPD1 Confirmed Biallelic Loss of function Niemann-Pick Disease Type B
SMS Probable Hemizygous Loss of function Snyder-Robinson Syndrome
SNAP25 Probable Monoallelic All missense/in frame Epilepsy and Intellectual Disability
SNAP29 Probable Biallelic Loss of function Cednik Syndrome
SNORD118 Both DD and IF Biallelic Loss of function Leukoencephalopathy with Cerebral Calcification & Cysts
SNRPB Confirmed Monoallelic Loss of function Cerebro-Costo-Mandibular Syndrome
SNRPE Probable Monoallelic All missense/in frame Autosomal-Dominant Hypotrichosis Simplex
SNX14 Confirmed Biallelic Loss of function ID, Macrocephaly and Cerebellar Hypoplasia
SON Confirmed Monoallelic Loss of function Intellectual Disability, Congenital Malformations, and Failure to Thrive
SOS1 Confirmed Monoallelic Activating Noonan Syndrome 4
SOX10 Confirmed Monoallelic Loss of function Kallmann Syndrome with Deafness
SOX10 Confirmed Monoallelic Dominant negative Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome, and Hirschsprung Disease
SOX10 Confirmed Monoallelic Loss of function Waardenburg Syndrome Type 2E
SOX10 Confirmed Monoallelic Loss of function Waardenburg Syndrome Type 4C
SOX10 Confirmed Monoallelic Uncertain Yemenite Deaf-Blind Hypopigmentation Syndrome
SOX11 Probable Monoallelic All missense/in frame Mental Retardation, Autosomal Dominant, 27
SOX17 Confirmed Monoallelic All missense/in frame Vesicoureteral Reflux Type 3
SOX2 Confirmed Monoallelic Loss of function Aeg Syndrome
SOX2 Confirmed Monoallelic Loss of function Microphthalmia Syndromic Type 3
SOX3 Confirmed Hemizygous Loss of function Mental Retardation X-Linked with Isolated Growth Hormone Deficiency
SOX3 Confirmed X-linked dominant Cis-regulatory or promotor mutation Sex Reversal Type 3
SOX5 Probable Monoallelic Loss of function 12P12.5 Intragenic Deletions Associated with Intellectual Disability
SOX9 Confirmed Monoallelic Loss of function Campomelic Dysplasia
SOX9 Confirmed Monoallelic Cis-regulatory or promotor mutation Pierre Robin Sequence
SPAG1 Confirmed Biallelic Loss of function Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
SPARC Probable Biallelic All missense/in frame Osteogenesis Imperfecta, Type XVII
SPATA5 Confirmed Biallelic Loss of function Epilepsy, Hearing Loss, and Mental Retardation Syndrome
SPECC1L Probable Monoallelic All missense/in frame Facial Clefting, Oblique, 1
SPEG Confirmed Biallelic Loss of function Centronuclear Myopathy with Dilated Cardiomyopathy
SPG11 Confirmed Biallelic Loss of function Spastic Paraplegia-11
SPR Confirmed Biallelic Loss of function Dopa-Responsive Dystonia due to Sepiapterin Reductase Deficiency
SPRED1 Confirmed Monoallelic Loss of function Legius Syndrome
SPTAN1 Probable Monoallelic Dominant negative Epileptic Encephalopathy Early Infantile Type 5
SPTLC2 Both DD and IF Monoallelic All missense/in frame Neuropathy, Hereditary Sensory and Autonomic, Type IC
SRCAP Confirmed Monoallelic Dominant negative Floating-Harbor Syndrome
SRD5A3 Confirmed Biallelic Loss of function Congenital Disorders of Glycosylation
SRP54 Probable Monoallelic Uncertain Syndromic Neutropenia with Shwachman-Diamond-Like Features
SRY Confirmed Hemizygous Loss of function 46XY Sex Reversal 1
ST14 Probable Biallelic All missense/in frame Ichthyosis Autosomal Recessive with Hypotrichosis
ST3GAL3 Probable Biallelic All missense/in frame Mental Retardation, Autosomal Recessive 12
ST3GAL5 Probable Biallelic Loss of function Amish Infantile Epilepsy Syndrome
STAG1 Confirmed Monoallelic Loss of function STAG1 Syndromic Intellectual Disability
STAG2 Confirmed Monoallelic Loss of function STAG2-Related Developmental Delay with Microcephaly and Congenital Anomalies
STAMBP Confirmed Biallelic Loss of function Microcephalycapillary Malformation (MIC-CAP) Syndrome
STAR Confirmed Biallelic Loss of function Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia
STAT5B Probable Biallelic Loss of function Growth Hormone Insensitivity with Immunodeficiency
STIL Probable Biallelic Loss of function Microcephaly Primary Type 7
STRA6 Confirmed Biallelic Loss of function Microphthalmia Syndromic Type 9
STS Confirmed Hemizygous Loss of function Ichthyosis, X-Linked
STX1B Probable Monoallelic Loss of function Generalized Epilepsy with Febrile Seizures Plus, Type 9
STXBP1 Confirmed Monoallelic Loss of function Angelman/Pitt Hopkins Syndrome-Like Disorder
STXBP1 Confirmed Monoallelic Loss of function Epileptic Encephalopathy Early Infantile Type 4
SUCLG1 Confirmed Biallelic Loss of function Fatal Infantile Lactic Acidosis
SUFU Probable Biallelic All missense/in frame Joubert Syndrome with Cranio-Facial and Skeletal Defects
SUMF1 Confirmed Biallelic Loss of function Sulfatidosis, Juvenile, Austin Type
SURF1 Confirmed Biallelic Loss of function Complex IV Deficiency
SURF1 Confirmed Biallelic Loss of function Leigh Syndrome
SUV420H1 Confirmed Monoallelic Loss of function KMT5B Syndrome
SYN1 Probable Hemizygous Loss of function Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
SYNE1 Both DD and IF Biallelic Loss of function Emery-Dreifuss Muscular Dystrophy 4, Autosomal Recessive
SYNE1 Both DD and IF Biallelic Loss of function Spinocerebellar Ataxia, Autosomal Recessive 8
SYNGAP1 Confirmed Monoallelic Loss of function Epileptic Encephalopathy
SYNGAP1 Confirmed Monoallelic Loss of function Mental Retardation Autosomal Dominant Type 5
SYP Confirmed Hemizygous Loss of function Mental Retardation X-Linked Syp-Related
SZT2 Probable Biallelic Loss of function Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
TAB2 Confirmed Monoallelic All missense/in frame Congenital Heart Disease, Nonsyndromic, 2
TAC3 Probable Biallelic All missense/in frame Hypogonadotropic Hypogonadism
TACO1 Probable Biallelic Loss of function Leigh Syndrome due to Mitochondrial Complex IV Deficiency
TACR3 Probable Biallelic All missense/in frame Hypogonadotropic Hypogonadism
TAF1 Confirmed Hemizygous Loss of function Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
TAF13 Probable Biallelic All missense/in frame Autosomal-Recessive Intellectual Disability and Microcephaly
TANGO2 Confirmed Biallelic Loss of function Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
TAPT1 Probable Biallelic Loss of function Complex Lethal Osteochondrodysplasia
TAT Confirmed Biallelic Loss of function Tyrosinemia Type 2
TAZ Confirmed Hemizygous Loss of function Barth Syndrome
TBC1D20 Probable Biallelic Loss of function Warburg Micro Syndrome 4
TBC1D23 Confirmed Biallelic Loss of function Non-Degenerative Pontocerebellar Hypoplasia
TBC1D24 Confirmed Biallelic Loss of function Doors Syndrome
TBC1D24 Confirmed Biallelic All missense/in frame Myoclonic Epilepsy, Infantile, Familial
TBC1D24 Confirmed Biallelic All missense/in frame Non Syndromal Hearing Loss
TBCD Confirmed Biallelic Loss of function Early-Onset Neurodegenerative Encephalopathy
TBCE Probable Biallelic All missense/in frame Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
TBCE Confirmed Biallelic Loss of function Hypoparathyroidism-Retardation-Dysmorphism Syndrome
TBCE Confirmed Biallelic Loss of function Kenny-Caffey Syndrome Type 1
TBCK Confirmed Biallelic Loss of function Severe Infantile Syndromic Encephalopathy
TBL1XR1 Confirmed Monoallelic Loss of function Intellectual Disability with Autism Spectrum Disorder
TBL1XR1 Confirmed Monoallelic Activating Pierpont Syndrome
TBR1 Probable Monoallelic Loss of function Autism
TBX1 Confirmed Monoallelic Loss of function 22Q11.2 Deletion Syndrome
TBX15 Confirmed Biallelic Loss of function Cousin Syndrome; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
TBX18 Probable Monoallelic Loss of function Congenital Anomalies of Kidney and Urinary Tract 2
TBX20 Confirmed Monoallelic Loss of function Atrial Septal Defect Type 4
TBX22 Confirmed Hemizygous Loss of function Cleft Palate, X-Linked
TBX3 Confirmed Monoallelic Loss of function Ulnar-Mammary Syndrome
TBX4 Confirmed Monoallelic Loss of function Small Patella Syndrome
TBX5 Confirmed Monoallelic Loss of function Holt-Oram Syndrome
TBXAS1 Confirmed Biallelic All missense/in frame Ghosal Hematodiaphyseal Syndrome
TCF12 Confirmed Monoallelic Loss of function Coronal Craniosynostosis
TCF20 Confirmed Monoallelic Loss of function TCF20 Syndrome
TCF4 Confirmed Monoallelic Loss of function Pitt-Hopkins Syndrome
TCN2 Confirmed Biallelic Loss of function Transcobalamin II Deficiency
TCOF1 Confirmed Monoallelic Loss of function Treacher Collins Syndrome Type 1
TCTN1 Probable Biallelic Loss of function Joubert Syndrome and Related Disorders
TCTN2 Probable Biallelic Loss of function Joubert Syndrome and Related Disorders
TCTN3 Confirmed Biallelic Loss of function Mohr-Majewski Syndrome
TECPR2 Probable Biallelic Loss of function Hereditary Spastic Paraparesis
TEK Confirmed Monoallelic All missense/in frame Venous Malformations, Multiple Cutaneous and Mucosal
TELO2 Probable Biallelic All missense/in frame TELO2 Syndromic Intellectual Disability Disorder
TERT Confirmed Biallelic All missense/in frame Dyskeratosis Congenita, Autosomal Recessive 4
TFAP2A Confirmed Monoallelic All missense/in frame Branchiooculofacial Syndrome
TFAP2B Confirmed Monoallelic All missense/in frame Char Syndrome
TGDS Confirmed Biallelic Loss of function Catel-Manzke Syndrome
TGFB1 Confirmed Monoallelic All missense/in frame Camurati-Engelmann Disease
TGFB2 Both DD and IF Monoallelic Loss of function Loeys-Dietz Syndrome, Type 4
TGFB3 Confirmed Monoallelic Loss of function Loeys-Dietz Syndrome
TGFBR1 Confirmed Monoallelic Uncertain Aortic Aneurysm Familial Thoracic Type 5
TGFBR1 Confirmed Monoallelic Uncertain Loeys-Dietz Syndrome Type 1A
TGFBR1 Confirmed Monoallelic Uncertain Loeys-Dietz Syndrome Type 2A
TGFBR2 Confirmed Monoallelic Loss of function Loeys-Dietz Syndrome
TGFBR2 Confirmed Monoallelic Loss of function TGFBR2-Related Loeys-Dietz Syndrome
TGIF1 Confirmed Monoallelic Loss of function Holoprosencephaly
TH Confirmed Biallelic Loss of function Dopa-Responsive Dystonia
THAP1 Both DD and IF Monoallelic Loss of function Dystonia 6, Torsion
THOC2 Probable Hemizygous All missense/in frame Mental Retardation, X-Linked 12
THOC6 Confirmed Biallelic Loss of function Beaulieu-Boycott-Innes Syndrome
THRA Confirmed Monoallelic Loss of function Hypothyroidism, Congenital, Nongoitrous, 6
TIMM8A Both DD and IF Hemizygous Loss of function Jensen Syndrome
TIMM8A Both DD and IF Hemizygous Loss of function Mohr-Tranebjaerg Syndrome
TINF2 Confirmed Monoallelic Loss of function Exudative Retinopathy with Bone Marrow Failure
TK2 Confirmed Biallelic All missense/in frame Mitochondrial Dna Depletion Syndrome, Myopathic Form
TKT Probable Biallelic Loss of function Short Stature, Developmental Delay, and Congenital Heart Defects
TMCO1 Confirmed Biallelic Loss of function Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome
TMEM126B Confirmed Biallelic Loss of function Muscle Weakness and Isolated Complex I Deficiency
TMEM165 Confirmed Biallelic Loss of function Congenital Disorder of Glycosylation, Type IIk
TMEM216 Probable Biallelic All missense/in frame Joubert Syndrome 2
TMEM237 Confirmed Biallelic Loss of function Joubert Syndrome 14
TMEM260 Probable Biallelic Loss of function Neurodevelopmental, Cardiac, and Renal Syndrome
TMEM5 Confirmed Biallelic Loss of function Severe Cobblestone Lissencephaly
TMEM67 Confirmed Biallelic Loss of function Coach Syndrom
TMEM67 Confirmed Biallelic Loss of function Joubert Syndrome Type 6
TMEM67 Confirmed Biallelic Loss of function Meckel Syndrome Type 3
TMEM67 Confirmed Biallelic Uncertain Nephronophthisis Type 11
TMEM70 Confirmed Biallelic Loss of function Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
TMPRSS6 Confirmed Biallelic Loss of function Iron-Refractory Iron Deficiency Anemia
TMTC3 Probable Biallelic Loss of function Cobblestone Lissencephaly
TNFRSF13B Probable Biallelic Loss of function Immunodeficiency, Common Variable, 2
TOE1 Probable Biallelic Loss of function Pontocerebellar Hypoplasia
TP63 Confirmed Monoallelic Uncertain Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
TP63 Confirmed Monoallelic Uncertain Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
TP63 Confirmed Monoallelic Uncertain Ectodermal Dysplasia Rapp-Hodgkin Type
TP63 Confirmed Monoallelic Loss of function Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Type 3
TP63 Confirmed Monoallelic Uncertain Limb-Mammary Syndrome
TP63 Confirmed Monoallelic Uncertain Non-Syndromic Orofacial Cleft Type 8
TP63 Confirmed Monoallelic Uncertain Split-Hand/Foot Malformation Type 4
TPM2 Probable Monoallelic All missense/in frame Arthrogryposis, Distal, Type 1
TPP1 Confirmed Biallelic Loss of function Neuronal Ceroid Lipofuscinosis Type 2
TRAF7 Confirmed Monoallelic All missense/in frame Developmental Delay, Congenital Anomalies, and Dysmorphic Features
TRAF7 Probable Monoallelic All missense/in frame Developmental Delay, Congenital Malformations and Dysmorphism
TRAIP Probable Biallelic Loss of function Primordial Dwarfism
TRAPPC11 Probable Biallelic Loss of function Muscular Dystrophy, Limb-Girdle, Type 2S
TRAPPC12 Probable Digenic Loss of function Progressive Childhood Encephalopathy and Golgi Dysfunction
TRAPPC2 Confirmed Hemizygous Loss of function Spondyloepiphyseal Dysplasia Tarda
TRAPPC9 Confirmed Biallelic Loss of function Mental Retardation Autosomal Recessive Type 13
TREX1 Confirmed Biallelic Loss of function Aicardi-Goutieres Syndrome 1, Dominant and Recessive
TRIM32 Confirmed Biallelic Uncertain Bardet-Biedl Syndrome Type 11
TRIM32 Confirmed Biallelic Loss of function Limb-Girdle Muscular Dystrophy Type 2H
TRIM37 Confirmed Biallelic Loss of function Mulibrey Nanism
TRIO Probable Monoallelic Uncertain Intellectual Disability
TRIP11 Confirmed Biallelic Loss of function Achondrogenesis Type 1A
TRIP12 Confirmed Monoallelic Loss of function TRIP12-Related Intellectual Disability with/without Autism Spectrum Disorder
TRIP13 Probable Biallelic Loss of function Mosaic Variegated Aneuploidy and Wilms Tumour
TRIP4 Probable Biallelic Loss of function Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
TRMT10C Probable Biallelic All missense/in frame Mitochondrial Rna Processing and Multiple Respiratory Chain Deficiencies
TRPM1 Confirmed Biallelic Loss of function Night Blindness, Congenital Stationary, Type 1C
TRPS1 Confirmed Monoallelic Loss of function Tricho-Rhino-Phalangeal Syndrome Type 1
TRPV3 Probable Monoallelic All missense/in frame Olmsted Syndrome
TRPV4 Confirmed Monoallelic All missense/in frame Metatropic Dysplasia
TRPV4 Confirmed Monoallelic Activating Spondylometaphyseal Dysplasia, Kozlowski Type
TSC1 Confirmed Monoallelic Loss of function Tuberous Sclerosis Type 1
TSC2 Confirmed Monoallelic Loss of function Lymphangioleiomyomatosis
TSC2 Confirmed Monoallelic Loss of function Tuberous Sclerosis Type 2
TSEN15 Probable Biallelic All missense/in frame Pontocerebellar Hypoplasia and Progressive Microcephaly
TSEN2 Probable Biallelic All missense/in frame Pontocerebellar Hypoplasia Type 2 and Type 4
TSEN34 Probable Biallelic All missense/in frame Pontocerebellar Hypoplasia Type 2 and Type 4
TSEN54 Confirmed Biallelic Loss of function Pontocerebellar Hypoplasia Type 2 and Type 4
TSHB Confirmed Biallelic Loss of function Hypothryoidism, Congenital, Nongoitrous 4
TSHR Confirmed Monoallelic Activating Hyperthyroidism, Familial Gestational
TSHR Confirmed Biallelic All missense/in frame Hypothyroidism, Congenital, Nongoitrous, 1
TSPAN7 Confirmed Hemizygous Loss of function Mental Retardation X-Linked Type 58
TTC19 Confirmed Biallelic Loss of function Mitochondrial Complex III Deficiency
TTC25 Probable Biallelic Loss of function Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
TTC37 Confirmed Biallelic Loss of function Trichohepatoenteric Syndrome
TTC7A Confirmed Biallelic Loss of function Intestinal Atresia, Multiple
TTC8 Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 8
TTC8 Confirmed Biallelic Uncertain Retinitis Pigmentosa Type 51
TTI2 Probable Biallelic All missense/in frame Autosomal Recessive Mental Retardation
TUBA1A Confirmed Monoallelic Loss of function Intellectual Disability
TUBA1A Confirmed Monoallelic All missense/in frame Lissencephaly Type 3
TUBA8 Confirmed Biallelic Loss of function Polymicrogyria with Optic Nerve Hypoplasia
TUBB Confirmed Monoallelic All missense/in frame Circumferential Skin Creases Kunze Type
TUBB Confirmed Monoallelic All missense/in frame Cortical Dysplasia, Complex, with other Brain Malformations 6
TUBB2A Confirmed Monoallelic All missense/in frame Cortical Dysplasia, Complex, with other Brain Malformations 5
TUBB2B Confirmed Monoallelic Dominant negative Polymicrogyria Asymmetric
TUBB3 Probable Monoallelic All missense/in frame Congenital Fibrosis of the Extraocular Muscles
TUBB3 Probable Monoallelic All missense/in frame Cortical Dysplasia, Complex, with other Brain Malformations 1
TUBB4A Confirmed Monoallelic Activating Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
TUBG1 Probable Monoallelic All missense/in frame Posteriorly Predominant Pachygyria and Severe Microcephaly
TUBGCP4 Probable Biallelic Loss of function Autosomal-Recessive Microcephaly with Chorioretinopathy
TUBGCP6 Confirmed Biallelic Loss of function Microcephaly and Chorioretinopathy with or without Mental Retardation
TUFM Probable Biallelic All missense/in frame Combined Oxidative Phosphorylation Deficiency 4
TUSC3 Confirmed Biallelic Loss of function Mental Retardation Autosomal Recessive Type 7
TWIST1 Confirmed Monoallelic Loss of function Craniosynostosis, Type 1
TWIST1 Confirmed Monoallelic Loss of function Saethre-Chotzen Syndrome
TWIST2 Confirmed Monoallelic Dominant negative Ablepharon Macrostomia Syndrome
TWIST2 Probable Biallelic Loss of function Setleis Syndrome
TXNL4A Confirmed Biallelic Loss of function Burn Mckeown Syndrome
TYR Confirmed Biallelic Loss of function Oculocutaneous Albinism Type 1
TYRP1 Confirmed Biallelic Loss of function Oculocutaneous Albinism Type 3
UBA5 Confirmed Biallelic Loss of function Severe Infantile-Onset Encephalopathy
UBE2A Confirmed Hemizygous Loss of function UBE2A-Related X-Linked Syndromic Mental Retardation
UBE2T Probable Biallelic Loss of function Fanconi Anemia, Complementation Group T
UBE3A Confirmed Imprinted Loss of function Angelman Syndrome
UBE3B Confirmed Biallelic Loss of function Blepharophimosis-Mental Retardation
UBR1 Confirmed Biallelic Loss of function Johanson-Blizzard Syndrome
UBTF Probable Monoallelic Activating Childhood-Onset Neurodegeneration
UFC1 Confirmed Severe Early-Onset Encephalopathy with Progressive Microcephaly
UFM1 Confirmed Biallelic Loss of function Severe Early-Onset Encephalopathy with Progressive Microcephaly,
UGT1A1 Confirmed Biallelic Loss of function Crigler-Najjar Syndrome, Type I
UMPS Confirmed Biallelic Loss of function Orotic Aciduria Type 1
UNC80 Confirmed Biallelic Loss of function Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
UPF3B Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked Type 14
UQCRB Probable Biallelic Loss of function Mitochondrial Respiratory Chain Complex III Deficiency, Uqcrb-Related
UQCRQ Probable Biallelic All missense/in frame Mitochondrial Respiratory Chain Complex III Deficiency, Uqcrq Related
UROC1 Confirmed Biallelic Uncertain Urocanase Deficiency
UROS Confirmed Biallelic Loss of function Congenital Erythropoietic Porphyria
USB1 Confirmed Biallelic Loss of function Poikiloderma with Neutropenia
USP18 Probable Biallelic Loss of function Severe Pseudo-Torch Syndrome
USP27X Probable Hemizygous Loss of function Intellectual Disability
USP9X Probable Hemizygous Loss of function Mental Retardation, X-Linked 99
USP9X Probable X-linked dominant Loss of function Mental Retardation, X-Linked 99
UVSSA Confirmed Biallelic Loss of function Uv-Sensitive Syndrome
VDR Confirmed Biallelic Loss of function Rickets Vitamin D-Dependent Type 2A
VIPAS39 Confirmed Biallelic Loss of function Arthrogryposis, Renal Dysfunction, and Cholestasis 2
VLDLR Confirmed Biallelic Loss of function Cerebellar Ataxia Mental Retardation and Dysequilibrium Syndrome Type 1
VPS13B Confirmed Biallelic Loss of function Cohen Syndrome
VPS33B Confirmed Biallelic Loss of function Arthrogryposis, Renal Dysfunction, and Cholestasis 1
VRK1 Probable Biallelic Loss of function Pontocerebellar Hypoplasia Type 1
VSX2 Confirmed Biallelic Loss of function Microphthalmia Isolated Type 2
VSX2 Confirmed Biallelic Loss of function Microphthalmia Isolated with Coloboma Type 3
VSX2 Confirmed Biallelic Uncertain Microphthalmia with Cataracts and Iris Abnormalities
WAC Confirmed Monoallelic Loss of function Intellectual Disability
WAC Confirmed Monoallelic Loss of function Wac Syndrome
WDPCP Confirmed Biallelic Loss of function Bardet-Biedl Syndrome Type 15
WDR11 Confirmed Monoallelic All missense/in frame Kallmann Syndrome
WDR19 Confirmed Biallelic Uncertain Asphyxiating Thoracic Dystrophy 5
WDR19 Confirmed Biallelic Loss of function Cranioectodermal Dysplasia 4
WDR26 Confirmed Monoallelic Loss of function Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
WDR34 Confirmed Biallelic All missense/in frame Severe Asphyxiating Thoracic Dysplasia
WDR34 Confirmed Biallelic All missense/in frame Short-Rib Polydactyly Syndrome Type III
WDR35 Confirmed Biallelic Loss of function Cranioectodermal Dysplasia 2
WDR35 Confirmed Biallelic Loss of function Short Rib-Polydactyly Syndrome, Type V
WDR45 Confirmed X-linked dominant Loss of function Neurodegeneration with Brain Iron Accumulation
WDR60 Confirmed Biallelic Loss of function Jeune Syndromes
WDR60 Confirmed Biallelic Loss of function Short-Rib Polydactyly
WDR62 Confirmed Biallelic Loss of function Microcephaly Cortical Malformations and Mental Retardation
WDR73 Probable Biallelic Loss of function Galloway-Mowat Syndrome: Microcephaly and Steroid-Resistant Nephrotic Syndrome
WNT1 Confirmed Biallelic Loss of function Osteogenesis Imperfecta
WNT10B Confirmed Biallelic Loss of function Split-Hand/Foot Malformation Type 6
WNT3 Confirmed Biallelic Loss of function Tetra-Amelia Syndrome
WNT4 Probable Monoallelic All missense/in frame Mullerian Aplasia and Hyperandrogenism
WNT4 Probable Biallelic All missense/in frame Serkal Syndrome
WNT5A Confirmed Monoallelic All missense/in frame WNT5A-Related Robinow Syndrome, Autosomal Dominant
WNT7A Confirmed Biallelic Uncertain Fuhrmann Syndrome
WNT7A Confirmed Biallelic Uncertain Limb/Pelvis-Hypoplasia/Aplasia Syndrome
WRAP53 Confirmed Biallelic All missense/in frame Dyskeratosis Congenita, Autosomal Recessive 3
WT1 Confirmed Monoallelic Dominant negative Denys-Drash Syndrome
WT1 Confirmed Monoallelic Dominant negative Frasier Syndrome Frasier Syndrome Frasier Syndrome
WWOX Probable Biallelic Loss of function Epileptic Encephalopathy, Early Infantile, 28
WWOX Probable Biallelic All missense/in frame Spinocerebellar Ataxia, Autosomal Recessive 12
XPA Confirmed Biallelic Loss of function Xeroderma Pigmentosum, Group A
XPC Confirmed Biallelic Loss of function Xeroderma Pigmentosum, Group C
XRCC4 Confirmed Biallelic Loss of function Primordial Dwarfism
XYLT1 Confirmed Biallelic Loss of function Desbuquois Dysplasia 2
XYLT2 Probable Biallelic Loss of function Spondyloocular Syndrome
YAP1 Probable Monoallelic Loss of function Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation
YWHAG Probable Monoallelic Activating Early-Onset Epilepsy
YY1 Confirmed Monoallelic Uncertain Intellectual Disability
ZBTB18 Confirmed Monoallelic Loss of function ZBTB18 Syndrome
ZBTB20 Confirmed Monoallelic Dominant negative Primrose Syndrome
ZC4H2 Confirmed Hemizygous Loss of function Arthrogryposis Multiplex Congenita and Intellectual Disability
ZC4H2 Confirmed X-linked dominant Loss of function Arthrogryposis Multiplex Congenita and Intellectual Disability
ZDHHC9 Confirmed Hemizygous Loss of function Mental Retardation Syndromic X-Linked ZDHHC9-Related
ZEB2 Confirmed Monoallelic Loss of function Mowat-Wilson Syndrome
ZFP57 Confirmed Biallelic Loss of function Diabetes Mellitus, 6Q24-Related Transient Neonatal
ZFYVE26 Confirmed Biallelic Loss of function Spastic Paraplegia Autosomal Recessive Type 15
ZIC1 Confirmed Monoallelic Activating Craniosynostosis 6
ZIC2 Confirmed Monoallelic Loss of function Holoprosencephaly
ZIC3 Confirmed Hemizygous Loss of function Heterotaxy Syndrome
ZIC3 Confirmed Hemizygous All missense/in frame Vacterl Association, X-Linked, with or without Hydrocephalus
ZMPSTE24 Confirmed Biallelic Loss of function Lethal Restrictive Dermopathy, ZMPSTE24-Related
ZMPSTE24 Confirmed Biallelic Loss of function Mandibuloacral Dysplasia with Type B Lipodystrophy
ZMYND10 Probable Biallelic Loss of function Primary Ciliary Dyskinesia-22
ZMYND11 Probable Monoallelic Loss of function Intellectual Disability
ZNF462 Probable Monoallelic Loss of function Craniofacial Anomalies, Corpus Callosum Dysgenesis, Ptosis, and Developmental Delay
ZNF711 Confirmed Hemizygous Loss of function Mental Retardation X-Linked ZNF711-Related
ZNF750 Probable Monoallelic Loss of function Seborrhea-Like Dermatitis with Psoriasiform Elements
ZSWIM6 Probable Monoallelic Activating Acromelic Frontonasal Dysostosis