Wolf-Hirschhorn Syndrome |
4:1569197-2110236
|
Heterozygous |
Deletion |
541.04 kb |
1 |
Cri du Chat Syndrome (5p deletion) |
5:10001-12533304
|
Heterozygous |
Deletion |
12.52 Mb |
1 |
Williams-Beuren Syndrome (WBS) |
7:72744455-74142672
|
Heterozygous |
Deletion |
1.40 Mb |
1 |
Angelman syndrome (Type 1) |
15:22749354-28438266
|
Heterozygous |
Deletion |
5.69 Mb |
1 |
Smith-Magenis Syndrome |
17:16773072-20222149
|
Heterozygous |
Deletion |
3.45 Mb |
1 |
Prader-Willi syndrome (Type 1) |
15:22749354-28438266
|
Heterozygous |
Deletion |
5.69 Mb |
1 |
NF1-microdeletion syndrome |
17:29107097-30263321
|
Heterozygous |
Deletion |
1.16 Mb |
1 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
22:19009792-21452445
|
Heterozygous |
Deletion |
2.44 Mb |
1 |
AZFb |
Y:20118045-26065197
|
Hemizygous |
Deletion |
5.95 Mb |
|
Sotos syndrome |
5:175724636-177052116
|
Heterozygous |
Deletion |
1.33 Mb |
1 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
17:16773072-20222149
|
Heterozygous |
Duplication |
3.45 Mb |
|
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
22:51045516-51187844
|
Heterozygous |
Deletion |
142.33 kb |
1 |
Miller-Dieker syndrome (MDS) |
17:1-2588909
|
Heterozygous |
Deletion |
2.59 Mb |
1 |
AZFa |
Y:14352761-15154862
|
Hemizygous |
Deletion |
802.10 kb |
|
AZFc |
Y:24977425-28033929
|
Hemizygous |
Deletion |
3.06 Mb |
|
AZFb+AZFc |
Y:19964826-27793830
|
Hemizygous |
Deletion |
7.83 Mb |
|
Steroid sulphatase deficiency (STS) |
X:6455812-8133195
|
Hemizygous |
Deletion |
1.68 Mb |
|
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
17:14097915-15470903
|
Heterozygous |
Duplication |
1.37 Mb |
1 |
Hereditary Liability to Pressure Palsies (HNPP) |
17:14097915-15470903
|
Heterozygous |
Deletion |
1.37 Mb |
1 |
22q11 duplication syndrome |
22:19009792-21452445
|
Heterozygous |
Duplication |
2.44 Mb |
3 |
Potocki-Shaffer syndrome |
11:43994800-46052450
|
Heterozygous |
Deletion |
2.06 Mb |
1 |
WAGR 11p13 deletion syndrome |
11:31806339-32457087
|
Heterozygous |
Deletion |
650.75 kb |
|
3q29 microdeletion syndrome |
3:195726835-197344663
|
Heterozygous |
Deletion |
1.62 Mb |
|
Pelizaeus-Merzbacher disease |
X:103031438-103047547
|
Unknown |
Duplication |
16.11 kb |
|
8p23.1 deletion syndrome |
8:8100055-11764629
|
Heterozygous |
Deletion |
3.66 Mb |
|
Cat-Eye Syndrome (Type I) |
22:1-16971860
|
Homozygous |
Duplication |
16.97 Mb |
|
7q11.23 duplication syndrome |
7:72744455-74142672
|
Heterozygous |
Duplication |
1.40 Mb |
|
Familial Adenomatous Polyposis |
5:112043201-112181936
|
Heterozygous |
Deletion |
138.74 kb |
|
2q37 monosomy |
2:239969863-240322643
|
Heterozygous |
Deletion |
352.78 kb |
1 |
Xq28 (MECP2) duplication |
X:153287263-153363188
|
Unknown |
Duplication |
75.93 kb |
|
Split hand/foot malformation 1 (SHFM1) |
7:96318078-96339203
|
Heterozygous |
Deletion |
21.13 kb |
|
RCAD (renal cysts and diabetes) |
17:34815072-36215917
|
Heterozygous |
Deletion |
1.40 Mb |
|
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
21:27252860-27543446
|
Heterozygous |
Duplication |
290.59 kb |
|
2q33.1 deletion syndrome |
2:196925121-205206939
|
Heterozygous |
Deletion |
8.28 Mb |
1 |
9q subtelomeric deletion syndrome |
9:140513443-140730578
|
Heterozygous |
Deletion |
217.14 kb |
1 |
Prader-Willi Syndrome (Type 2) |
15:23619912-28438266
|
Heterozygous |
Deletion |
4.82 Mb |
1 |
Angelman syndrome (Type 2) |
15:23619912-28438266
|
Heterozygous |
Deletion |
4.82 Mb |
1 |
17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome) |
17:43705166-44294406
|
Heterozygous |
Deletion |
589.24 kb |
1 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:751878-867875
|
Heterozygous |
Deletion |
116.00 kb |
|
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:460558-753877
|
Heterozygous |
Deletion |
293.32 kb |
|
Adult-onset autosomal dominant leukodystrophy (ADLD) |
5:126112314-126172712
|
Heterozygous |
Duplication |
60.40 kb |
|
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376
|
Heterozygous |
Deletion |
1.35 Mb |
3 |
22q11.2 distal deletion syndrome |
22:21917117-23722445
|
Heterozygous |
Deletion |
1.81 Mb |
|
15q13.3 microdeletion syndrome |
15:30910306-32445407
|
Heterozygous |
Deletion |
1.54 Mb |
|
1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome |
1:145386506-145748067
|
Heterozygous |
Deletion |
361.56 kb |
3 |
ATR-16 syndrome |
16:60001-834372
|
Heterozygous |
Deletion |
774.37 kb |
1 |
15q24 recurrent microdeletion syndrome |
15:74412643-75972911
|
Heterozygous |
Deletion |
1.56 Mb |
|
1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376
|
Heterozygous |
Duplication |
1.35 Mb |
3 |
16p11.2-p12.2 microdeletion syndrome |
16:21512062-30199854
|
Heterozygous |
Deletion |
8.69 Mb |
|
2p21 Microdeletion Syndrome |
2:44410451-44589584
|
Heterozygous |
Deletion |
179.13 kb |
|
Xq28 Microduplication |
X:153624563-153881853
|
Unknown |
Duplication |
257.29 kb |
|
Xp11.22-p11.23 Microduplication |
X:48334549-52117661
|
Unknown |
Duplication |
3.78 Mb |
|
Xp11.22-linked intellectual disability |
X:53401070-53683275
|
Unknown |
Duplication |
282.21 kb |
|
12q14 microdeletion syndrome |
12:65071919-68645525
|
Heterozygous |
Deletion |
3.57 Mb |
|
3q29 microduplication syndrome |
3:195726835-197344663
|
Heterozygous |
Duplication |
1.62 Mb |
|
16p11.2 microduplication syndrome |
16:29606852-30199855
|
Heterozygous |
Duplication |
593.00 kb |
|
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) |
16:14986684-16486684
|
Heterozygous |
Deletion |
1.50 Mb |
|
16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) |
16:14986684-16486684
|
Heterozygous |
Duplication |
1.50 Mb |
|
15q26 overgrowth syndrome |
15:99357970-102521392
|
Heterozygous |
Duplication |
3.16 Mb |
|
8q21.11 Microdeletion Syndrome |
8:77226464-77766239
|
Heterozygous |
Deletion |
539.78 kb |
|
12p13.33 Microdeletion Syndrome |
12:1080000-1346471
|
Heterozygous |
Deletion |
266.47 kb |
|
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
16:21946524-22467284
|
Heterozygous |
Deletion |
520.76 kb |
|
Mature Variant Report - RBM8A (c.-21delG) |
1:145507646-145507646
|
Heterozygous |
Deletion |
1 bp |
|
Mature Variant Report - RBM8A (c.67+32G>C) |
1:145507765-145507765
|
Heterozygous |
Deletion |
1 bp |
|
Mature Variant Report - FGFR3 (c.1138G>A) |
4:1806119-1806119
|
Heterozygous |
Deletion |
1 bp |
|
8p23.1 duplication syndrome |
8:8100055-11764629
|
Heterozygous |
Duplication |
3.66 Mb |
|
16p11.2-p12.2 microduplication syndrome |
16:21475060-29284077
|
Heterozygous |
Duplication |
7.81 Mb |
|
Rubinstein-Taybi Syndrome |
16:3775055-3930121
|
Heterozygous |
Deletion |
155.07 kb |
1 |
1p36 microdeletion syndrome |
1:10001-12840259
|
Heterozygous |
Deletion |
12.83 Mb |
1 |
2p15-16.1 microdeletion syndrome |
2:59285696-61819815
|
Heterozygous |
Deletion |
2.53 Mb |
|