| Wolf-Hirschhorn Syndrome |
4:1569197-2110236 |
0.54 |
1 |
| Cri du Chat Syndrome (5p deletion) |
5:10001-12533304 |
12.52 |
1 |
| Williams-Beuren Syndrome (WBS) |
7:72744455-74142672 |
1.40 |
1 |
| Angelman syndrome (Type 1) |
15:22749354-28438266 |
5.69 |
1 |
| Rubinstein-Taybi Syndrome
http://www.ncbi.nlm.nih.gov/books/NBK1526/ |
16:3775055-3930121 |
0.16 |
1 |
| Smith-Magenis Syndrome |
17:16773072-20222149 |
3.45 |
1 |
| Prader-Willi syndrome (Type 1) |
15:22749354-28438266 |
5.69 |
1 |
| NF1-microdeletion syndrome |
17:29107097-30263321 |
1.16 |
1 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
22:19009792-21452445 |
2.44 |
1 |
| AZFb |
Y:20118045-26065197 |
5.95 |
|
| Sotos syndrome |
5:175724636-177052116 |
1.33 |
1 |
| 1p36 microdeletion syndrome |
1:10001-12840259 |
12.83 |
1 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
17:16773072-20222149 |
3.45 |
|
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
22:51045516-51187844 |
0.14 |
1 |
| Miller-Dieker syndrome (MDS) |
17:1-2588909 |
2.59 |
1 |
| AZFa |
Y:14352761-15154862 |
0.80 |
|
| AZFc |
Y:24977425-28033929 |
3.06 |
|
| AZFb+AZFc |
Y:19964826-27793830 |
7.83 |
|
| Steroid sulphatase deficiency (STS) |
X:6455812-8133195 |
1.68 |
|
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
17:14097915-15470903 |
1.37 |
1 |
| Hereditary Liability to Pressure Palsies (HNPP) |
17:14097915-15470903 |
1.37 |
1 |
| 22q11 duplication syndrome |
22:19009792-21452445 |
2.44 |
3 |
| Potocki-Shaffer syndrome |
11:43994800-46052450 |
2.06 |
1 |
| WAGR 11p13 deletion syndrome |
11:31806339-32457087 |
0.65 |
|
| 3q29 microdeletion syndrome |
3:195726835-197344663 |
1.62 |
|
| Pelizaeus-Merzbacher disease |
X:103031438-103047547 |
0.02 |
|
| 8p23.1 deletion syndrome |
8:8100055-11764629 |
3.66 |
|
| Cat-Eye Syndrome (Type I) |
22:1-16971860 |
16.97 |
|
| 7q11.23 duplication syndrome |
7:72744455-74142672 |
1.40 |
|
| Familial Adenomatous Polyposis |
5:112043201-112181936 |
0.14 |
|
| 2q37 monosomy |
2:239969863-240322643 |
0.35 |
1 |
| Xq28 (MECP2) duplication |
X:153287263-153363188 |
0.08 |
|
| Split hand/foot malformation 1 (SHFM1) |
7:96318078-96339203 |
0.02 |
|
| RCAD (renal cysts and diabetes) |
17:34815072-36215917 |
1.40 |
|
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
21:27252860-27543446 |
0.29 |
|
| 2q33.1 deletion syndrome |
2:196925121-205206939 |
8.28 |
1 |
| 9q subtelomeric deletion syndrome |
9:140513443-140730578 |
0.22 |
1 |
| Prader-Willi Syndrome (Type 2) |
15:23619912-28438266 |
4.82 |
1 |
| Angelman syndrome (Type 2) |
15:23619912-28438266 |
4.82 |
1 |
| 17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome) |
17:43705166-44294406 |
0.59 |
1 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:460558-753877 |
0.29 |
|
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:751878-867875 |
0.12 |
|
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
5:126112314-126172712 |
0.06 |
|
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376 |
1.35 |
3 |
| 22q11.2 distal deletion syndrome |
22:21917117-23722445 |
1.81 |
|
| 15q13.3 microdeletion syndrome |
15:30910306-32445407 |
1.54 |
|
| 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome |
1:145386506-145748067 |
0.36 |
3 |
| ATR-16 syndrome |
16:60001-834372 |
0.77 |
1 |
| 15q24 recurrent microdeletion syndrome |
15:74412643-75972911 |
1.56 |
|
| 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376 |
1.35 |
3 |
| 16p11.2-p12.2 microdeletion syndrome |
16:21512062-30199854 |
8.69 |
|
| 2p15-16.1 microdeletion syndrome |
2:59285696-61819815 |
2.53 |
|
| 2p21 Microdeletion Syndrome |
2:44410451-44589584 |
0.18 |
|
| Xq28 Microduplication |
X:153624563-153881853 |
0.26 |
|
| Xp11.22-p11.23 Microduplication |
X:48334549-52117661 |
3.78 |
|
| Xp11.22-linked intellectual disability |
X:53401070-53683275 |
0.28 |
|
| 12q14 microdeletion syndrome |
12:65071919-68645525 |
3.57 |
|
| 3q29 microduplication syndrome |
3:195726835-197344663 |
1.62 |
|
| 16p11.2 microduplication syndrome |
16:29606852-30199855 |
0.59 |
|
| 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) |
16:14986684-16486684 |
1.50 |
|
| 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) |
16:14986684-16486684 |
1.50 |
|
| 15q26 overgrowth syndrome |
15:99357970-102521392 |
3.16 |
|
| 8p23.1 duplication syndrome |
8:8100055-11764629 |
3.66 |
|
| 8q21.11 Microdeletion Syndrome |
8:77226464-77766239 |
0.54 |
|
| 12p13.33 Microdeletion Syndrome |
12:1080000-1346471 |
0.27 |
|
| Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
16:21946524-22467284 |
0.52 |
|
| Mature Variant Report - RBM8A (c.-21delG) |
1:145507646-145507646 |
0.00 |
|
| Mature Variant Report - RBM8A (c.67+32G>C) |
1:145507765-145507765 |
0.00 |
|
| Mature Variant Report - FGFR3 (c.1138G>A) |
4:1806119-1806119 |
0.00 |
|
| 16p11.2-p12.2 microduplication syndrome |
16:21475060-29284077 |
7.81 |
|