Syndrome Location Interval Grade ?
Wolf-Hirschhorn Syndrome
4:1569197-2110236
541.04 kb 1
Cri du Chat Syndrome (5p deletion)
5:10001-12533304
12.52 Mb 1
Williams-Beuren Syndrome (WBS)
7:72744455-74142672
1.40 Mb 1
Angelman syndrome (Type 1)
15:22749354-28438266
5.69 Mb 1
Rubinstein-Taybi Syndrome http://www.ncbi.nlm.nih.gov/books/NBK1526/
16:3775055-3930121
155.07 kb 1
Smith-Magenis Syndrome
17:16773072-20222149
3.45 Mb 1
Prader-Willi syndrome (Type 1)
15:22749354-28438266
5.69 Mb 1
NF1-microdeletion syndrome
17:29107097-30263321
1.16 Mb 1
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
22:19009792-21452445
2.44 Mb 1
AZFb
Y:20118045-26065197
5.95 Mb
Sotos syndrome
5:175724636-177052116
1.33 Mb 1
1p36 microdeletion syndrome
1:10001-12840259
12.83 Mb 1
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
17:16773072-20222149
3.45 Mb
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
22:51045516-51187844
142.33 kb 1
Miller-Dieker syndrome (MDS)
17:1-2588909
2.59 Mb 1
AZFa
Y:14352761-15154862
802.10 kb
AZFc
Y:24977425-28033929
3.06 Mb
AZFb+AZFc
Y:19964826-27793830
7.83 Mb
Steroid sulphatase deficiency (STS)
X:6455812-8133195
1.68 Mb
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
17:14097915-15470903
1.37 Mb 1
Hereditary Liability to Pressure Palsies (HNPP)
17:14097915-15470903
1.37 Mb 1
22q11 duplication syndrome
22:19009792-21452445
2.44 Mb 3
Potocki-Shaffer syndrome
11:43994800-46052450
2.06 Mb 1
WAGR 11p13 deletion syndrome
11:31806339-32457087
650.75 kb
3q29 microdeletion syndrome
3:195726835-197344663
1.62 Mb
Pelizaeus-Merzbacher disease
X:103031438-103047547
16.11 kb
8p23.1 deletion syndrome
8:8100055-11764629
3.66 Mb
Cat-Eye Syndrome (Type I)
22:1-16971860
16.97 Mb
7q11.23 duplication syndrome
7:72744455-74142672
1.40 Mb
Familial Adenomatous Polyposis
5:112043201-112181936
138.74 kb
2q37 monosomy
2:239969863-240322643
352.78 kb 1
Xq28 (MECP2) duplication
X:153287263-153363188
75.93 kb
Split hand/foot malformation 1 (SHFM1)
7:96318078-96339203
21.13 kb
RCAD (renal cysts and diabetes)
17:34815072-36215917
1.40 Mb
Early-onset Alzheimer disease with cerebral amyloid angiopathy
21:27252860-27543446
290.59 kb
2q33.1 deletion syndrome
2:196925121-205206939
8.28 Mb 1
9q subtelomeric deletion syndrome
9:140513443-140730578
217.14 kb 1
Prader-Willi Syndrome (Type 2)
15:23619912-28438266
4.82 Mb 1
Angelman syndrome (Type 2)
15:23619912-28438266
4.82 Mb 1
17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome)
17:43705166-44294406
589.24 kb 1
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
X:460558-753877
293.32 kb
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
X:751878-867875
116.00 kb
Adult-onset autosomal dominant leukodystrophy (ADLD)
5:126112314-126172712
60.40 kb
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
1:146533376-147883376
1.35 Mb 3
22q11.2 distal deletion syndrome
22:21917117-23722445
1.81 Mb
15q13.3 microdeletion syndrome
15:30910306-32445407
1.54 Mb
1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome
1:145386506-145748067
361.56 kb 3
ATR-16 syndrome
16:60001-834372
774.37 kb 1
15q24 recurrent microdeletion syndrome
15:74412643-75972911
1.56 Mb
1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)
1:146533376-147883376
1.35 Mb 3
16p11.2-p12.2 microdeletion syndrome
16:21512062-30199854
8.69 Mb
2p15-16.1 microdeletion syndrome
2:59285696-61819815
2.53 Mb
2p21 Microdeletion Syndrome
2:44410451-44589584
179.13 kb
Xq28 Microduplication
X:153624563-153881853
257.29 kb
Xp11.22-p11.23 Microduplication
X:48334549-52117661
3.78 Mb
Xp11.22-linked intellectual disability
X:53401070-53683275
282.21 kb
12q14 microdeletion syndrome
12:65071919-68645525
3.57 Mb
3q29 microduplication syndrome
3:195726835-197344663
1.62 Mb
16p11.2 microduplication syndrome
16:29606852-30199855
593.00 kb
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)
16:14986684-16486684
1.50 Mb
16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)
16:14986684-16486684
1.50 Mb
15q26 overgrowth syndrome
15:99357970-102521392
3.16 Mb
8q21.11 Microdeletion Syndrome
8:77226464-77766239
539.78 kb
12p13.33 Microdeletion Syndrome
12:1080000-1346471
266.47 kb
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
16:21946524-22467284
520.76 kb
Mature Variant Report - RBM8A (c.-21delG)
1:145507646-145507646
1 b
Mature Variant Report - RBM8A (c.67+32G>C)
1:145507765-145507765
1 b
Mature Variant Report - FGFR3 (c.1138G>A)
4:1806119-1806119
1 b
8p23.1 duplication syndrome
8:8100055-11764629
3.66 Mb
16p11.2-p12.2 microduplication syndrome
16:21475060-29284077
7.81 Mb