Sugi Variant

Sugi Variant/NOTCH1

NOTCH1 — 4281 ClinVar variants

All ClinVar germline NOTCH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1889 flagged for review →

82 Pathogenic · 8 Pathogenic/Likely pathogenic · 83 Likely pathogenic · 591 Conflicting · 197 Benign · 307 Benign/Likely benign · 1452 Likely benign · 1561 Uncertain significance

Full NOTCH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1889

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 400

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 400

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1043

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1043

Predictors split 444

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 444

All NOTCH1 variants

Pathogenic 82

Pathogenic/Likely pathogenic 8

  • c.1099+1G>T Multiple submitters Adams-Oliver syndrome 5
  • c.1904-2A>G Multiple submitters NOTCH1-related disorder
  • p.Asp1517Asn Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1496Tyr Multiple submitters Adams-Oliver syndrome 5
  • p.Gln1495Ter Multiple submitters Adams-Oliver syndrome 5
  • p.Ser137Ter Multiple submitters Adams-Oliver syndrome 5
  • c.743-1G>T No assertion criteria Adams-Oliver syndrome 5
  • p.Cys429Arg No assertion criteria Adams-Oliver syndrome 5

Likely pathogenic 83

Conflicting classifications of pathogenicity 591

Showing the top 300 by review status; the full set is in the sitemap.

Benign 197

Benign/Likely benign 307

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1100-14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1100-16G>C Multiple submitters Adams-Oliver syndrome 5
  • c.140+17C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1441+11C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1556-9C>T Multiple submitters aortic valve disease 1
  • c.1669+13G>A Multiple submitters Adams-Oliver syndrome 5
  • c.1669+15C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1670-10C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1670-19C>T Multiple submitters aortic valve disease 1
  • c.1903+14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1903+7G>T Multiple submitters Adams-Oliver syndrome 5
  • c.1904-10A>G Multiple submitters Adams-Oliver syndrome 5
  • c.2014+16C>T Multiple submitters aortic valve disease 1
  • c.2014+17G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2207+10G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2207+16G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2353+13C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2468-19G>A Multiple submitters aortic valve disease 1
  • c.2587+19C>G Multiple submitters Adams-Oliver syndrome 5
  • c.2740+13G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2969+14G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2970-9C>T Multiple submitters connective tissue disorder
  • c.3171+8C>T Multiple submitters aortic valve disease 1
  • c.3171+9G>A Multiple submitters Adams-Oliver syndrome 5
  • c.3326-11A>C Multiple submitters connective tissue disorder
  • c.3511-10G>A Multiple submitters aortic valve disease 1
  • c.3511-11C>T Multiple submitters aortic valve disease 1
  • c.3643+16C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3643+17G>A Multiple submitters Adams-Oliver syndrome 5
  • c.3644-4G>A Multiple submitters connective tissue disorder
  • c.3901+11C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3901+12G>A Multiple submitters Adams-Oliver syndrome 5
  • c.4586+10C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5018+13C>T Multiple submitters aortic valve disease 1
  • c.5018+20C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5019-13_5019-10del Multiple submitters Adams-Oliver syndrome 5
  • c.5019-6G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.5168-4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.5168-5C>T Multiple submitters aortic valve disease 1
  • c.5384+13C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5384+14G>A Multiple submitters Adams-Oliver syndrome 5
  • c.5385-18C>T Multiple submitters aortic valve disease 1
  • c.5472+19G>C Multiple submitters Adams-Oliver syndrome 5
  • c.5473-6A>G Multiple submitters Adams-Oliver syndrome 5
  • c.5638+19A>G Multiple submitters aortic valve disease 1
  • c.6083-5C>T Multiple submitters aortic valve disease 1
  • c.61+19G>A Multiple submitters Adams-Oliver syndrome 5
  • c.62-8C>T Multiple submitters Adams-Oliver syndrome 5
  • c.743-14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.743-18C>T Multiple submitters Adams-Oliver syndrome 5
  • c.743-4G>T Multiple submitters Adams-Oliver syndrome 5
  • c.865+18C>T Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1135= Multiple submitters aortic valve disease 1
  • p.Ala1343Val Multiple submitters connective tissue disorder ⚠
  • p.Ala1512= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1552= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1562= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1643= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1741= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1742= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala18Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1906= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1908= Multiple submitters aortic valve disease 1
  • p.Ala1935= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1971= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2257= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2331Thr Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2478Thr Multiple submitters Adams-Oliver syndrome 5
  • p.Ala683= Multiple submitters connective tissue disorder
  • p.Ala796= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala882= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1107Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1279His Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1303= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1330= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1608His Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1760= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1783= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1854= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg207= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg2098= Multiple submitters aortic valve disease 1
  • p.Arg234His Multiple submitters Adams-Oliver syndrome 5
  • p.Arg504His Multiple submitters Adams-Oliver syndrome 5
  • p.Arg621= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg621His Multiple submitters connective tissue disorder
  • p.Arg938Gln Multiple submitters Adams-Oliver syndrome 5
  • p.Asn104Ser Multiple submitters connective tissue disorder
  • p.Asn1226Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1359= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1395= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1469= Multiple submitters connective tissue disorder
  • p.Asn1482= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn151= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1603= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn180= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn197= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn2050= Multiple submitters aortic valve disease 1
  • p.Asn2143= Multiple submitters connective tissue disorder
  • p.Asn2321= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn268= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn325= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn373= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn382= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn41= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn463= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn605= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn623= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn689= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn723= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn840= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn947= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn994= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1111= Multiple submitters connective tissue disorder
  • p.Asp1230= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1277= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1348= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1502= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1517= Multiple submitters aortic valve disease 1
  • p.Asp1542= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1609= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1815= Multiple submitters aortic valve disease 1
  • p.Asp1836Asn Multiple submitters Adams-Oliver syndrome 5
  • p.Asp2020= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp2114= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp2442= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp259= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp297= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp374= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp545= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp582= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp622Asn Multiple submitters Adams-Oliver syndrome 5
  • p.Asp643= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp651= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp742= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp808= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp909Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1083= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1171= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1284= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys144= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1545= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys321= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys344= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys423= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys449= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys487= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys563= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys600= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys650= Multiple submitters aortic valve disease 1
  • p.Cys693= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys725= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys873= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys931= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys998= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln1134Arg Multiple submitters Adams-Oliver syndrome 5
  • p.Gln1691= Multiple submitters connective tissue disorder
  • p.Gln1974= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2307= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2403= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu1305= Multiple submitters aortic valve disease 1
  • p.Glu1341Lys Multiple submitters Adams-Oliver syndrome 5
  • p.Glu1456= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu2267= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu38= Multiple submitters aortic valve disease 1
  • p.Glu450= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu694Lys Multiple submitters connective tissue disorder
  • p.Glu848Lys Multiple submitters connective tissue disorder
  • p.Gly1039Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1360= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1393= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1892= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2152= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2152Arg Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2245= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2259= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2287= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2299= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2420= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2430Ala Multiple submitters Adams-Oliver syndrome 5
  • p.Gly34= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly347= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly49= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly765= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly785= Multiple submitters aortic valve disease 1
  • p.Gly842= Multiple submitters Adams-Oliver syndrome 5
  • p.His1020= Multiple submitters Adams-Oliver syndrome 5
  • p.His1564= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1629= Multiple submitters connective tissue disorder
  • p.His1735= Multiple submitters Adams-Oliver syndrome 5
  • p.His191= Multiple submitters Adams-Oliver syndrome 5
  • p.His2018= Multiple submitters aortic valve disease 1
  • p.His2125= Multiple submitters Adams-Oliver syndrome 5
  • p.His346= Multiple submitters aortic valve disease 1
  • p.His523Tyr Multiple submitters Adams-Oliver syndrome 5
  • p.His709= Multiple submitters Adams-Oliver syndrome 5
  • p.His880= Multiple submitters aortic valve disease 1
  • p.Ile451= Multiple submitters Adams-Oliver syndrome 5
  • p.Ile679= Multiple submitters aortic valve disease 1
  • p.Leu1121= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu1199= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1272= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu1444= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1712= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu1805= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu1988= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu2135= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu2397= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu2446= Multiple submitters Adams-Oliver syndrome 5
  • p.Leu2457Val Multiple submitters connective tissue disorder
  • p.Leu2464= Multiple submitters Adams-Oliver syndrome 5
  • p.Lys428= Multiple submitters Adams-Oliver syndrome 5
  • p.Lys814= Multiple submitters Adams-Oliver syndrome 5
  • p.Phe1340= Multiple submitters Adams-Oliver syndrome 5
  • p.Phe1516= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe1736= Multiple submitters Adams-Oliver syndrome 5
  • p.Phe52= Multiple submitters Adams-Oliver syndrome 5
  • p.Phe783= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1256Leu Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1257= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1377Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1442= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1582= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1630= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1641Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1731= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro1907= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro2133Ser Multiple submitters aortic valve disease 1
  • p.Pro2151= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro2199= Multiple submitters aortic valve disease 1
  • p.Pro2227= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro2238= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro22Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Pro2325= Multiple submitters aortic valve disease 1
  • p.Pro2334Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Pro2349= Multiple submitters aortic valve disease 1
  • p.Pro2512= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro2551= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro285= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro422= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro480= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro55= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro62= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro668= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro832= Multiple submitters Adams-Oliver syndrome 5
  • p.Pro935= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro972= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser1066= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser1098= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1365= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1407= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1551= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser1657= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser169Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1708= Multiple submitters connective tissue disorder
  • p.Ser1801= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser1856= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1891= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser2121= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser2194= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser2288= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser2290= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser333= Multiple submitters Adams-Oliver syndrome 5
  • p.Ser88Asn Multiple submitters aortic valve disease 1
  • p.Thr1090= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr1128= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr1161= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr123= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr123Met Multiple submitters Adams-Oliver syndrome 5
  • p.Thr1328= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1697= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr1725= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr194Pro Multiple submitters Adams-Oliver syndrome 5 ⚠
  • p.Thr2076= Multiple submitters aortic valve disease 1
  • p.Thr2132= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr2483= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr250= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr293= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr349Pro Multiple submitters aortic valve disease 1
  • p.Thr555= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr654= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr66Ile Multiple submitters Adams-Oliver syndrome 5
  • p.Thr712= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr865= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr923= Multiple submitters Adams-Oliver syndrome 5
  • p.Thr984= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr1430= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr1620= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr1738= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr2074= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr291= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr550= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr625= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr708= Multiple submitters Adams-Oliver syndrome 5
  • p.Tyr775= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1096= Multiple submitters Adams-Oliver syndrome 5
  • p.Val1307Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1599= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1671Ile Multiple submitters Adams-Oliver syndrome 5
  • p.Val2285Ile Multiple submitters Adams-Oliver syndrome 5
  • p.Val2443Met Multiple submitters Adams-Oliver syndrome 5

Likely benign 1452

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1099+16C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1099+9C>T Multiple submitters aortic valve disease 1
  • c.1100-17C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1255+15_1255+16del Multiple submitters Adams-Oliver syndrome 5
  • c.1255+20G>T Multiple submitters Adams-Oliver syndrome 5
  • c.140+14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.140+19G>C Multiple submitters Adams-Oliver syndrome 5
  • c.140+20del Multiple submitters Adams-Oliver syndrome 5
  • c.140+257A>T Multiple submitters
  • c.1441+11C>A Multiple submitters Adams-Oliver syndrome 5
  • c.1441+12G>A Multiple submitters Adams-Oliver syndrome 5
  • c.1442-12C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1555+16G>A Multiple submitters Adams-Oliver syndrome 5
  • c.1555+60G>T Multiple submitters
  • c.1669+16C>T Multiple submitters
  • c.1670-18G>A Multiple submitters connective tissue disorder
  • c.1670-7G>T Multiple submitters Adams-Oliver syndrome 5
  • c.1670-8C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1904-16C>T Multiple submitters Adams-Oliver syndrome 5
  • c.1904-20G>A Multiple submitters Adams-Oliver syndrome 5
  • c.1904-20G>C Multiple submitters Adams-Oliver syndrome 5
  • c.2014+7G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2015-13G>C Multiple submitters Adams-Oliver syndrome 5
  • c.2015-14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2207+15C>T Multiple submitters aortic valve disease 1
  • c.2207+19C>G Multiple submitters Adams-Oliver syndrome 5
  • c.2207+20A>G Multiple submitters Adams-Oliver syndrome 5
  • c.2207+90A>G Multiple submitters
  • c.2353+15C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2353+16G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2353+93A>G Multiple submitters
  • c.2354-14C>A Multiple submitters connective tissue disorder
  • c.2468-197C>T Multiple submitters
  • c.2468-4G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2468-66C>T Multiple submitters
  • c.2468-73C>G Multiple submitters
  • c.2588-15C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2588-16T>G Multiple submitters aortic valve disease 1
  • c.2588-20G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2588-93C>T Multiple submitters
  • c.2588-9G>T Multiple submitters Adams-Oliver syndrome 5
  • c.2740+128G>A Multiple submitters
  • c.2740+14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2740+15G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2740+187C>T Multiple submitters
  • c.2740+188G>A Multiple submitters
  • c.2741-12G>A Multiple submitters Adams-Oliver syndrome 5
  • c.2741-18C>T Multiple submitters Adams-Oliver syndrome 5
  • c.2970-20G>T Multiple submitters Adams-Oliver syndrome 5
  • c.3171+12G>A Multiple submitters aortic valve disease 1
  • c.3172-5C>T Multiple submitters
  • c.3326-12C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3326-16A>T Multiple submitters Adams-Oliver syndrome 5
  • c.3510+11C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3510+27T>G Multiple submitters
  • c.3511-18G>A Multiple submitters Adams-Oliver syndrome 5
  • c.3643+10G>A Multiple submitters aortic valve disease 1
  • c.3643+14C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3644-14A>G Multiple submitters Adams-Oliver syndrome 5
  • c.3644-17G>A Multiple submitters Adams-Oliver syndrome 5
  • c.3901+10G>A Multiple submitters connective tissue disorder
  • c.3901+19C>T Multiple submitters Adams-Oliver syndrome 5
  • c.3901+20G>A Multiple submitters Adams-Oliver syndrome 5
  • c.4014+8C>G Multiple submitters Adams-Oliver syndrome 5
  • c.4015-7C>G Multiple submitters Adams-Oliver syndrome 5
  • c.4015-7C>T Multiple submitters Adams-Oliver syndrome 5
  • c.404-117T>C Multiple submitters
  • c.404-13C>G Multiple submitters aortic valve disease 1
  • c.404-5T>C Multiple submitters Adams-Oliver syndrome 5
  • c.4586+11G>C Multiple submitters Adams-Oliver syndrome 5
  • c.4587-12C>T Multiple submitters Adams-Oliver syndrome 5
  • c.4587-6C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5018+14G>A Multiple submitters Adams-Oliver syndrome 5
  • c.5019-10G>A Multiple submitters Adams-Oliver syndrome 5
  • c.5019-20CT[2] Multiple submitters Adams-Oliver syndrome 5
  • c.5019-51C>T Multiple submitters
  • c.5019-7C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5167+19C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5168-15C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5168-7C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5472+19G>A Multiple submitters Adams-Oliver syndrome 5
  • c.5472+8G>T Multiple submitters Adams-Oliver syndrome 5
  • c.5472+9C>T Multiple submitters Adams-Oliver syndrome 5
  • c.5639-16G>A Multiple submitters Adams-Oliver syndrome 5
  • c.5934+146G>A Multiple submitters
  • c.6181-15G>A Multiple submitters Adams-Oliver syndrome 5
  • c.62-4C>T Multiple submitters Adams-Oliver syndrome 5
  • c.742+185C>T Multiple submitters
  • c.743-17G>A Multiple submitters Adams-Oliver syndrome 5
  • c.743-6C>T Multiple submitters Adams-Oliver syndrome 5
  • c.865+16G>A Multiple submitters Adams-Oliver syndrome 5
  • c.865+19G>A Multiple submitters Adams-Oliver syndrome 5
  • c.*2C>T Multiple submitters
  • p.Ala1105= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1173= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1436= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1448= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1458= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1471= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1524= Multiple submitters aortic valve disease 1
  • p.Ala1570= Multiple submitters aortic valve disease 1
  • p.Ala1571= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1610= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1635= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1639= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1700= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala1701= Multiple submitters aortic valve disease 1
  • p.Ala1720= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1850= Multiple submitters aortic valve disease 1
  • p.Ala1931= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1952= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1973= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2006= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2019= Multiple submitters connective tissue disorder
  • p.Ala2068= Multiple submitters aortic valve disease 1
  • p.Ala2250= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2251= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2256= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2339= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala2400= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2452= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala342= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala348= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala396= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala426= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala585= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala71= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala83= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala86= Multiple submitters Adams-Oliver syndrome 5
  • p.Ala973= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1263= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1287= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1368= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1438= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1598= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1672His Multiple submitters Adams-Oliver syndrome 5
  • p.Arg1877= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg2180= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg2263= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg2327= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg234= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg353= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg504= Multiple submitters Adams-Oliver syndrome 5
  • p.Arg780= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg879= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1070= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1194= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1221= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1241= Multiple submitters aortic valve disease 1
  • p.Asn1399= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1421= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1421Ser Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1489= Multiple submitters aortic valve disease 1
  • p.Asn1587= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1799= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn1875= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn2086= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn2117= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn2248= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn229= Multiple submitters aortic valve disease 1
  • p.Asn2401= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn2528= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn304= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn308= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn454= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn641= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn70= Multiple submitters aortic valve disease 1
  • p.Asn764= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn793= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn798= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn871= Multiple submitters Adams-Oliver syndrome 5
  • p.Asn956= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1000= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1038= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1064= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1124= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1147= Multiple submitters aortic valve disease 1
  • p.Asp118= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1185= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1223= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1429= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1457= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1475= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1506= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1520= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1557= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1670= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1802= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1807= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1833= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1835= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1868= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1905= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp1972= Multiple submitters aortic valve disease 1
  • p.Asp2212= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp238= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp2518= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp274= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp412= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp452= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp464= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp469= Multiple submitters aortic valve disease 1
  • p.Asp492= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp530= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp566= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp571= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp695= Multiple submitters aortic valve disease 1
  • p.Asp809= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp909= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp924= Multiple submitters Adams-Oliver syndrome 5
  • p.Asp965= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1025= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1047= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1094= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1149= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys117= Multiple submitters aortic valve disease 1
  • p.Cys1244= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1271= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1304= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1322= Multiple submitters aortic valve disease 1
  • p.Cys1463= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1472= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1479= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys149= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1490= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1514= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1554= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys1752= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys204= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys2308= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys387= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys456= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys46= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys570= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys607= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys638= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys704= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys739= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys838= Multiple submitters aortic valve disease 1
  • p.Cys893= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys904= Multiple submitters Adams-Oliver syndrome 5
  • p.Cys963= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln1193= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln1214= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2322= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2361= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2386= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2459= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln2487= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln290= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln619= Multiple submitters Adams-Oliver syndrome 5
  • p.Gln846= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu2204= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu242= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu424= Multiple submitters Adams-Oliver syndrome 5
  • p.Glu716= Multiple submitters aortic valve disease 1
  • p.Glu843= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1033= Multiple submitters aortic valve disease 1
  • p.Gly1071= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1109= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1136= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1165= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1342= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1401= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1422= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1437= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1476= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly152= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1558= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1673= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly172= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1865= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly1894= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2051= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly212= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2188= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2208= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly2261= Multiple submitters aortic valve disease 1
  • p.Gly309= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly403= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly406= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly446= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly583= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly635= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly782= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly812= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly81Asp Multiple submitters Adams-Oliver syndrome 5 ⚠
  • p.Gly841= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly860= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly881= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly889= Multiple submitters Adams-Oliver syndrome 5
  • p.Gly920= Multiple submitters Adams-Oliver syndrome 5
  • p.His1470= Multiple submitters aortic valve disease 1
  • p.His1611= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1933= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2107= Multiple submitters Adams-Oliver syndrome 5
  • p.His2241= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2378= Multiple submitters Adams-Oliver syndrome 5
  • p.His241= Multiple submitters Adams-Oliver syndrome 5
  • p.His2428= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Uncertain significance 1561

Showing the top 300 by review status; the full set is in the sitemap.