MED13L — 1753 ClinVar variants

Pathogenic 180

• p.Arg148Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Arg1760Ter Multiple submitters MED13L-related disorder
• p.Arg1900Ter Multiple submitters MED13L-related disorder
• p.Arg379Ter Multiple submitters dextro-looped transposition of the great arteries
• p.Arg564Ter Multiple submitters Inborn genetic diseases
• p.Cys1932fs Multiple submitters Inborn genetic diseases
• p.Gln1473Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1725Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2111fs Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2140Ter Multiple submitters Inborn genetic diseases
• p.Gln691Ter Multiple submitters neurodevelopmental disorder
• p.His1363fs Multiple submitters Inborn genetic diseases
• p.Leu1997fs Multiple submitters dextro-looped transposition of the great arteries
• p.Met1Val Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser1667fs Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser570fs Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp88Ter Multiple submitters dextro-looped transposition of the great arteries
• c.1280+1G>A Single submitter
• c.2239-2A>G Single submitter Inborn genetic diseases
• c.2569+1G>A Single submitter
• c.311-1G>A Single submitter
• c.4108_4114+3del Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.5364+1dup Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.5365-1G>A Single submitter Inborn genetic diseases
• c.5588+1G>A Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.5589-1G>A Single submitter
• c.5732-2A>C Single submitter intellectual disability
• c.6388-2A>G Single submitter
• c.760_1175+967del Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ala1083fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ala12fs Single submitter
• p.Ala1940fs Single submitter dextro-looped transposition of the great arteries
• p.Ala2096fs Single submitter
• p.Ala977Val Single submitter ⚠
• p.Arg1199fs Single submitter Inborn genetic diseases
• p.Arg1974Ter Single submitter
• p.Arg388fs Single submitter Inborn genetic diseases
• p.Arg440Ter Single submitter
• p.Arg842Ter Single submitter
• p.Asn1127_Phe1128insTer Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn1154fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn1572fs Single submitter dextro-looped transposition of the great arteries
• p.Asn1824fs Single submitter
• p.Asn2014fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn20fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn93fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp1129fs Single submitter
• p.Asp263fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp42fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp657fs Single submitter Delayed speech and language development
• p.Asp697fs Single submitter MED13L-related neurodevelopmental disorder
• p.Cys1256fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Cys1424fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Cys1854Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Cys2124Ter Single submitter Inborn genetic diseases
• p.Gln1069Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1157Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1321Ter Single submitter
• p.Gln1335Ter Single submitter Inborn genetic diseases
• p.Gln1351Ter Single submitter
• p.Gln1354Ter Single submitter
• p.Gln1537Ter Single submitter
• p.Gln185Ter Single submitter
• p.Gln1956Ter Single submitter
• p.Gln1981Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2006fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln201Ter Single submitter dextro-looped transposition of the great arteries
• p.Gln2092Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2093Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2111Ter Single submitter Inborn genetic diseases
• p.Gln2119Ter Single submitter MED13L-related disorder
• p.Gln446Ter Single submitter
• p.Gln506Ter Single submitter MED13L-related neurodevelopmental disorder
• p.Gln562Ter Single submitter
• p.Gln687Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln703Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln704Ter Single submitter dextro-looped transposition of the great arteries
• p.Gln862Ter Single submitter
• p.Gln984Ter Single submitter neurodevelopmental disorder
• p.Glu107fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1105fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1374fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1375Ter Single submitter intellectual disability
• p.Glu1378Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1405Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1491Ter Single submitter
• p.Glu1849Ter Single submitter dextro-looped transposition of the great arteries
• p.Glu1918fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu2079fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu2143Ter Single submitter dextro-looped transposition of the great arteries
• p.Glu238Ter Single submitter dextro-looped transposition of the great arteries
• p.Glu474Ter Single submitter
• p.Glu496Ter Single submitter dextro-looped transposition of the great arteries
• p.Glu665fs Single submitter
• p.Glu928fs Single submitter dextro-looped transposition of the great arteries
• p.Gly1005fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gly2040fs Single submitter intellectual disability
• p.Gly620fs Single submitter Inborn genetic diseases
• p.Gly920_Leu921insTer Single submitter Inborn genetic diseases
• p.His127fs Single submitter dextro-looped transposition of the great arteries
• p.His1834fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.His2195Arg Single submitter dextro-looped transposition of the great arteries
• p.Ile1338fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ile1659fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ile98fs Single submitter Inborn genetic diseases
• p.Leu1254fs Single submitter neurodevelopmental disorder
• p.Leu1409fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu1430Ter Single submitter dextro-looped transposition of the great arteries
• p.Leu1524fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu1762fs Single submitter
• p.Leu2081fs Single submitter dextro-looped transposition of the great arteries
• p.Leu210fs Single submitter
• p.Leu58Ter Single submitter intellectual disability
• p.Leu971fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Lys159Ter Single submitter dextro-looped transposition of the great arteries
• p.Lys371fs Single submitter
• p.Met135fs Single submitter
• p.Met1750fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met2025fs Single submitter
• p.Met359fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met396fs Single submitter
• p.Met499fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met772fs Single submitter dextro-looped transposition of the great arteries
• p.Phe1128fs Single submitter dextro-looped transposition of the great arteries
• p.Pro1512_Tyr1513insTer Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro1526fs Single submitter
• p.Pro1573fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro2055fs Single submitter
• p.Pro2094Thr Single submitter Inborn genetic diseases
• p.Pro293fs Single submitter
• p.Pro370fs Single submitter
• p.Pro648fs Single submitter
• p.Pro835fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro879fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser1260fs Single submitter dextro-looped transposition of the great arteries
• p.Ser1605Ter Single submitter
• p.Ser1641fs Single submitter Inborn genetic diseases
• p.Ser1695fs Single submitter
• p.Ser454Ter Single submitter Inborn genetic diseases
• p.Ser666fs Single submitter intellectual disability
• p.Ser773fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1065fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1470fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1541fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1815fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1923fs Single submitter dextro-looped transposition of the great arteries
• p.Thr418fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr469fs Single submitter dextro-looped transposition of the great arteries
• p.Thr781fs Single submitter intellectual disability
• p.Thr801fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp110Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp1307Ter Single submitter
• p.Trp1347Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp1359Ter Single submitter dextro-looped transposition of the great arteries
• p.Trp1699fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp72Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Tyr618fs Single submitter
• p.Tyr854fs Single submitter dextro-looped transposition of the great arteries
• p.Val1471fs Single submitter
• p.Val271fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.480-1G>T No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.4956-2A>C No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.6226-1G>C No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.626-1_626dup No assertion criteria
• c.626-2A>G No assertion criteria
• c.73-1G>A No assertion criteria
• p.Gln1361fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1984fs No assertion criteria Impaired intellectual development and distinctive facial features with cardiac defects
• p.Gln289fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gly2066fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ile774fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu582fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met1718fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Phe1484fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro2087fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser1489fs No assertion criteria Chromatinopathy
• p.Ser203fs No assertion criteria Impaired intellectual development and distinctive facial features with cardiac defects
• p.Trp2112Ter No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Val1304fs No assertion criteria
• p.Val181_His186delinsAsn No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome

Pathogenic/Likely pathogenic 12

• c.2996+1G>A Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.395+1G>A Multiple submitters intellectual disability
• p.Arg1052Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp860Gly Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln2123Ter Multiple submitters MED13L-related disorder
• p.Gln689Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro2094Ser Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Pro866Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Pro869Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser2163Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr2162Met Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr28fs Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome

Likely pathogenic 120

• p.Gln1486Ter Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln2186Ter Multiple submitters Paediatric disorders
• p.Met949fs Multiple submitters intellectual disability
• p.Pro869Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro879Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• c.1176-1G>A Single submitter dextro-looped transposition of the great arteries
• c.2013-1G>T Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2239-11T>G Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2345-1G>T Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2345-3C>G Single submitter intellectual disability
• c.3935-1G>A Single submitter dextro-looped transposition of the great arteries
• c.3935-2A>G Single submitter Inborn genetic diseases
• c.4338+5G>A Single submitter
• c.4955+1G>A Single submitter dextro-looped transposition of the great arteries
• c.5175+1G>A Single submitter dextro-looped transposition of the great arteries
• c.5364+1G>T Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.5890+1G>C Single submitter
• c.6067+1G>A Single submitter Inborn genetic diseases
• c.6076_6105dup Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.6500+1dup Single submitter MED13L-related disorder
• c.6501-2del Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ala125Val Single submitter
• p.Ala1819fs Single submitter MED13L-related disorder
• p.Ala2008Ser Single submitter ⚠
• p.Asn1127fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn1137His Single submitter ⚠
• p.Asn1862fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp1117fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp596fs Single submitter MED13L-related disorder
• p.Cys1162Arg Single submitter syndromic microphthalmia ⚠
• p.Cys178_Val181del Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1195Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1235Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1361Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1452fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1725His Single submitter ⚠
• p.Gln1757fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1821Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1888Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1989Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln223Ter Single submitter MED13L-related disorder
• p.Glu111fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu131fs Single submitter intellectual disability
• p.Glu1348Ter Single submitter MED13L-related disorder
• p.Glu15Ter Single submitter
• p.Glu1657_Arg1658insTer Single submitter MED13L-related disorder
• p.Glu1908Gln Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1954fs Single submitter MED13L-related disorder
• p.Glu251fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu252_Ser253insTer Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu332Gly Single submitter MED13L-related neurodevelopmental disorder
• p.Glu569fs Single submitter MED13L-related disorder
• p.Gly113Val Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly1142Glu Single submitter MED13L-related disorder ⚠
• p.Gly1163Arg Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly1634fs Single submitter MED13L-related disorder
• p.Gly1899Arg Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gly218Arg Single submitter
• p.Gly303fs Single submitter MED13L-related disorder
• p.Gly355_Met356insTer Single submitter
• p.Gly448fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.His1453Arg Single submitter
• p.His2155fs Single submitter
• p.His2195Tyr Single submitter
• p.His761Asn Single submitter ⚠
• p.Ile1315fs Single submitter Marfanoid habitus and intellectual disability
• p.Ile1884Leu Single submitter ⚠
• p.Ile192fs Single submitter MED13L-related disorder
• p.Leu1401fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu1876fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu2170Trp Single submitter
• p.Leu617fs Single submitter MED13L-related disorder
• p.Lys1929Glu Single submitter ⚠
• p.Lys2091fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Lys249Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Lys250fs Single submitter
• p.Lys678fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Lys686Ter Single submitter MED13L-related disorder
• p.Met1Leu Single submitter Global developmental delay
• p.Met1Thr Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met864Lys Single submitter ⚠
• p.Phe1333fs Single submitter MED13L-related disorder
• p.Phe865Leu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Pro1210fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro1379Leu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Pro2193Leu Single submitter MED13L-related disorder
• p.Pro45fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro577_Val578insTer Single submitter MED13L-related disorder
• p.Pro869Thr Single submitter ⚠
• p.Ser1031fs Single submitter
• p.Ser1652Asn Single submitter ⚠
• p.Ser180fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser297fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser407Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ser878Phe Single submitter ⚠
• p.Ser888_Ser889insTer Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Thr1161Ile Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr1343fs Single submitter
• p.Thr1571fs Single submitter MED13L-related disorder
• p.Thr867Ile Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Trp1272Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp145fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp1838fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Trp412Ter Single submitter MED13L-related disorder
• p.Tyr1012fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Tyr116Cys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Tyr150Ter Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Tyr1680Cys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Val1678Asp Single submitter Inborn genetic diseases
• p.Val2194fs Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Ala1558fs No assertion criteria MED13L-related disorder
• p.Cys1132Ter No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1598Ter No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gln1984Ter No assertion criteria MED13L-related disorder
• p.Gln942Ter No assertion criteria MED13L-related disorder
• p.Glu2143fs No assertion criteria
• p.His1107fs No assertion criteria MED13L-related disorder
• p.His1453Pro No assertion criteria Rare genetic intellectual disability
• p.Ser330fs No assertion criteria Rare genetic intellectual disability
• p.Val1095fs No assertion criteria cardiac anomalies - developmental delay - facial dysmorphism syndrome

Conflicting classifications of pathogenicity 81

• c.5732-3C>T Single submitter Inborn genetic diseases
• c.6388-4C>T Single submitter dextro-looped transposition of the great arteries
• p.Ala1278Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala2104Val Single submitter dextro-looped transposition of the great arteries
• p.Ala977Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1263Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1283Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1342Cys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg1342His Single submitter Inborn genetic diseases ⚠
• p.Arg1872Cys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1933Trp Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg784Trp Single submitter Inborn genetic diseases ⚠
• p.Asn1311Ser Single submitter Inborn genetic diseases ⚠
• p.Asn1824Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn20Ser Single submitter dextro-looped transposition of the great arteries
• p.Asp1440Gly Single submitter Inborn genetic diseases ⚠
• p.Asp262Gly Single submitter Inborn genetic diseases ⚠
• p.Asp657Val Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys1448Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Cys619Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Cys733Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1650Arg Single submitter Inborn genetic diseases ⚠
• p.Gln201His Single submitter Inborn genetic diseases ⚠
• p.Gln2092Glu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln343His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln395His Single submitter Inborn genetic diseases ⚠
• p.Glu1432Lys Single submitter Inborn genetic diseases ⚠
• p.Glu1651Asp Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly1173Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly1463Arg Single submitter Inborn genetic diseases ⚠
• p.Gly1620Asp Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly337Asp Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly620Glu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly706Glu Single submitter dextro-looped transposition of the great arteries ⚠
• p.His1305Tyr Single submitter dextro-looped transposition of the great arteries ⚠
• p.His761Arg Single submitter Inborn genetic diseases ⚠
• p.Ile1793Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ile2206Val Single submitter Inborn genetic diseases ⚠
• p.Leu27Phe Single submitter dextro-looped transposition of the great arteries ⚠
• p.Leu517Phe Single submitter dextro-looped transposition of the great arteries ⚠
• p.Leu673Phe Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Met1202Ile Single submitter dextro-looped transposition of the great arteries ⚠
• p.Met1968Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Met356Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Met376Arg Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Met864Leu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Phe944Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Pro1289Leu Single submitter Inborn genetic diseases ⚠
• p.Pro244Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Pro293Leu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Pro692Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Pro866= Single submitter dextro-looped transposition of the great arteries
• p.Pro989Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser1076Asn Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser1310Asn Single submitter MED13L-related disorder ⚠
• p.Ser1925Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser2116Leu Single submitter Inborn genetic diseases
• p.Ser424Phe Single submitter Inborn genetic diseases ⚠
• p.Ser450Ile Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser465del Single submitter dextro-looped transposition of the great arteries
• p.Ser515Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser575Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ser635Asn Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser708Gly Single submitter Inborn genetic diseases ⚠
• p.Thr1023Met Single submitter Inborn genetic diseases ⚠
• p.Thr1089Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr120Met Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr1571Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr1626Met Single submitter Inborn genetic diseases ⚠
• p.Thr1663Met Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr1844Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr219Met Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr358Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr358Met Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr398Pro Single submitter Inborn genetic diseases ⚠
• p.Thr503Ile Single submitter dextro-looped transposition of the great arteries ⚠
• p.Tyr1389Cys Single submitter Inborn genetic diseases ⚠
• p.Tyr1830Cys Single submitter Inborn genetic diseases ⚠
• p.Val1072Ile Single submitter dextro-looped transposition of the great arteries ⚠
• p.Val269Ala Single submitter Inborn genetic diseases ⚠
• p.Val436Ala Single submitter dextro-looped transposition of the great arteries ⚠

Benign 140

• c.1009+12C>G Multiple submitters dextro-looped transposition of the great arteries
• c.1010-14G>A Multiple submitters dextro-looped transposition of the great arteries
• c.2013-10del Multiple submitters dextro-looped transposition of the great arteries
• c.2013-29_2013-27dup Multiple submitters
• c.2239-16T>C Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2570-74T>A Multiple submitters
• c.4956-40A>G Multiple submitters
• c.5364+182A>G Multiple submitters
• c.5731+54A>G Multiple submitters
• c.5731+55T>A Multiple submitters
• c.626-27A>C Multiple submitters
• p.Ala1536Val Multiple submitters dextro-looped transposition of the great arteries
• p.Ala530= Multiple submitters dextro-looped transposition of the great arteries
• p.Asn193= Multiple submitters dextro-looped transposition of the great arteries
• p.Gln591= Multiple submitters dextro-looped transposition of the great arteries
• p.Ile621= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu1024= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu336= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro2118= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro483Thr Multiple submitters dextro-looped transposition of the great arteries
• p.Pro715= Multiple submitters
• p.Thr1976= Multiple submitters dextro-looped transposition of the great arteries
• c.1010-32A>G Single submitter
• c.1176-212A>C Single submitter
• c.1176-3T>C Single submitter dextro-looped transposition of the great arteries
• c.1280+138T>C Single submitter
• c.1280+44C>T Single submitter
• c.2012+47G>C Single submitter
• c.2013-29_2013-28dup Single submitter
• c.2013-2A>T Single submitter
• c.2013-45T>C Single submitter
• c.2469+211T>C Single submitter
• c.2470-15A>G Single submitter dextro-looped transposition of the great arteries
• c.2470-20A>G Single submitter dextro-looped transposition of the great arteries
• c.2570-17_2570-16del Single submitter dextro-looped transposition of the great arteries
• c.2570-334C>T Single submitter
• c.2997-11T>G Single submitter dextro-looped transposition of the great arteries
• c.2997-139A>C Single submitter
• c.2997-17G>A Single submitter dextro-looped transposition of the great arteries
• c.2997-27C>T Single submitter
• c.311-15dup Single submitter dextro-looped transposition of the great arteries
• c.311-4del Single submitter dextro-looped transposition of the great arteries
• c.395+26G>A Single submitter
• c.4114+249T>C Single submitter
• c.4338+22T>C Single submitter
• c.4339-9T>C Single submitter dextro-looped transposition of the great arteries
• c.4532-49G>A Single submitter
• c.4956-11TC[3] Single submitter dextro-looped transposition of the great arteries
• c.4956-50C>T Single submitter
• c.4956-71del Single submitter
• c.5175+21T>A Single submitter
• c.5176-17dup Single submitter dextro-looped transposition of the great arteries
• c.5176-274G>A Single submitter
• c.5176-33G>T Single submitter
• c.5365-13G>A Single submitter dextro-looped transposition of the great arteries
• c.5365-22T>C Single submitter
• c.5365-330A>T Single submitter
• c.5890+11T>G Single submitter dextro-looped transposition of the great arteries
• c.5891-42G>C Single submitter
• c.6067+142T>A Single submitter
• c.6068-17del Single submitter dextro-looped transposition of the great arteries
• c.6387+4G>C Single submitter dextro-looped transposition of the great arteries
• c.6388-7dup Single submitter dextro-looped transposition of the great arteries
• c.72+27G>C Single submitter
• c.72+41dup Single submitter
• c.72+42G>C Single submitter
• c.73-179G>C Single submitter
• c.73-45G>C Single submitter
• c.73-5del Single submitter
• c.*11A>G Single submitter
• p.Ala1143= Single submitter dextro-looped transposition of the great arteries
• p.Ala1196Thr Single submitter dextro-looped transposition of the great arteries
• p.Ala1197Val Single submitter dextro-looped transposition of the great arteries
• p.Ala1554Thr Single submitter dextro-looped transposition of the great arteries
• p.Ala1672= Single submitter dextro-looped transposition of the great arteries
• p.Ala205Val Single submitter dextro-looped transposition of the great arteries
• p.Ala2147= Single submitter dextro-looped transposition of the great arteries
• p.Arg1200Cys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1507His Single submitter dextro-looped transposition of the great arteries
• p.Arg1903His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1544Ser Single submitter dextro-looped transposition of the great arteries
• p.Asn2052= Single submitter dextro-looped transposition of the great arteries
• p.Asn2182Ser Single submitter dextro-looped transposition of the great arteries
• p.Asn663= Single submitter dextro-looped transposition of the great arteries
• p.Asn93Asp Single submitter dextro-looped transposition of the great arteries
• p.Asp2036= Single submitter dextro-looped transposition of the great arteries
• p.Glu1426Gly Single submitter dextro-looped transposition of the great arteries
• p.Glu588= Single submitter dextro-looped transposition of the great arteries
• p.Gly1899= Single submitter dextro-looped transposition of the great arteries
• p.His198Pro Single submitter dextro-looped transposition of the great arteries ⚠
• p.His40Arg Single submitter dextro-looped transposition of the great arteries
• p.Ile1596Val Single submitter dextro-looped transposition of the great arteries
• p.Ile1630Met Single submitter dextro-looped transposition of the great arteries
• p.Ile56Val Single submitter dextro-looped transposition of the great arteries
• p.Ile978Leu Single submitter dextro-looped transposition of the great arteries
• p.Leu1243Gln Single submitter dextro-looped transposition of the great arteries
• p.Leu1318= Single submitter dextro-looped transposition of the great arteries
• p.Leu1711Val Single submitter dextro-looped transposition of the great arteries
• p.Leu1714= Single submitter dextro-looped transposition of the great arteries
• p.Leu601= Single submitter dextro-looped transposition of the great arteries
• p.Leu822Arg Single submitter dextro-looped transposition of the great arteries
• p.Leu956= Single submitter dextro-looped transposition of the great arteries
• p.Lys159Arg Single submitter dextro-looped transposition of the great arteries
• p.Lys1737= Single submitter dextro-looped transposition of the great arteries
• p.Lys686Glu Single submitter dextro-looped transposition of the great arteries
• p.Met359Thr Single submitter dextro-looped transposition of the great arteries
• p.Met376Ile Single submitter dextro-looped transposition of the great arteries
• p.Met834Ile Single submitter dextro-looped transposition of the great arteries
• p.Met915Thr Single submitter dextro-looped transposition of the great arteries
• p.Phe1827= Single submitter dextro-looped transposition of the great arteries
• p.Pro1097= Single submitter dextro-looped transposition of the great arteries
• p.Pro1097Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Pro1379= Single submitter dextro-looped transposition of the great arteries
• p.Pro1542= Single submitter dextro-looped transposition of the great arteries
• p.Pro2193= Single submitter dextro-looped transposition of the great arteries
• p.Pro331= Single submitter dextro-looped transposition of the great arteries
• p.Pro626= Single submitter dextro-looped transposition of the great arteries
• p.Pro979Leu Single submitter dextro-looped transposition of the great arteries
• p.Ser1248Cys Single submitter dextro-looped transposition of the great arteries
• p.Ser1306Pro Single submitter dextro-looped transposition of the great arteries
• p.Ser1566= Single submitter dextro-looped transposition of the great arteries
• p.Ser1589= Single submitter dextro-looped transposition of the great arteries
• p.Ser1589Leu Single submitter dextro-looped transposition of the great arteries
• p.Ser253Leu Single submitter dextro-looped transposition of the great arteries
• p.Ser314Gly Single submitter dextro-looped transposition of the great arteries
• p.Ser464Ala Single submitter dextro-looped transposition of the great arteries
• p.Ser550= Single submitter dextro-looped transposition of the great arteries
• p.Ser613= Single submitter dextro-looped transposition of the great arteries
• p.Ser900Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Thr1077= Single submitter dextro-looped transposition of the great arteries
• p.Thr1215= Single submitter dextro-looped transposition of the great arteries
• p.Thr1541= Single submitter dextro-looped transposition of the great arteries
• p.Thr1815= Single submitter dextro-looped transposition of the great arteries
• p.Thr763= Single submitter dextro-looped transposition of the great arteries
• p.Val1653Ile Single submitter dextro-looped transposition of the great arteries
• p.Val1754Ala Single submitter dextro-looped transposition of the great arteries
• p.Val2194Ile Single submitter dextro-looped transposition of the great arteries
• p.Val71Ile Single submitter dextro-looped transposition of the great arteries
• p.Val938Ile Single submitter dextro-looped transposition of the great arteries
• p.Val945Ala Single submitter dextro-looped transposition of the great arteries

Benign/Likely benign 71

• c.1175+5G>A Multiple submitters dextro-looped transposition of the great arteries
• c.2012+10CT[2] Multiple submitters dextro-looped transposition of the great arteries
• c.2013-29dup Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2013-5T>C Multiple submitters dextro-looped transposition of the great arteries
• c.2013-7C>T Multiple submitters dextro-looped transposition of the great arteries
• c.2013-9G>T Multiple submitters dextro-looped transposition of the great arteries
• c.2239-7T>C Multiple submitters dextro-looped transposition of the great arteries
• c.4114+8C>G Multiple submitters dextro-looped transposition of the great arteries
• c.6068-8C>T Multiple submitters dextro-looped transposition of the great arteries
• c.6225+20C>T Multiple submitters dextro-looped transposition of the great arteries
• c.72+10C>T Multiple submitters dextro-looped transposition of the great arteries
• c.73-10_73-9dup Multiple submitters dextro-looped transposition of the great arteries
• p.Ala1166= Multiple submitters dextro-looped transposition of the great arteries
• p.Ala12= Multiple submitters dextro-looped transposition of the great arteries
• p.Ala530Val Multiple submitters Inborn genetic diseases
• p.Arg1251His Multiple submitters dextro-looped transposition of the great arteries
• p.Arg1466Cys Multiple submitters dextro-looped transposition of the great arteries
• p.Arg233= Multiple submitters dextro-looped transposition of the great arteries
• p.Arg534Ile Multiple submitters dextro-looped transposition of the great arteries
• p.Arg637His Multiple submitters Inborn genetic diseases
• p.Arg784Gln Multiple submitters dextro-looped transposition of the great arteries
• p.Arg830Cys Multiple submitters Inborn genetic diseases
• p.Asn36Ser Multiple submitters dextro-looped transposition of the great arteries
• p.Asn408Ser Multiple submitters Inborn genetic diseases
• p.Asp257= Multiple submitters dextro-looped transposition of the great arteries
• p.Asp642His Multiple submitters Inborn genetic diseases
• p.Gln1252= Multiple submitters dextro-looped transposition of the great arteries
• p.Gln1888= Multiple submitters dextro-looped transposition of the great arteries
• p.Glu151Lys Multiple submitters dextro-looped transposition of the great arteries
• p.His1508Tyr Multiple submitters dextro-looped transposition of the great arteries
• p.His1509Tyr Multiple submitters dextro-looped transposition of the great arteries
• p.His1834= Multiple submitters dextro-looped transposition of the great arteries
• p.His375Arg Multiple submitters dextro-looped transposition of the great arteries
• p.His428Arg Multiple submitters dextro-looped transposition of the great arteries
• p.Ile1193Thr Multiple submitters Inborn genetic diseases
• p.Ile1937Leu Multiple submitters dextro-looped transposition of the great arteries
• p.Ile552Val Multiple submitters Inborn genetic diseases
• p.Leu14= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu1985= Multiple submitters dextro-looped transposition of the great arteries
• p.Lys1171Arg Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Lys316= Multiple submitters dextro-looped transposition of the great arteries
• p.Lys686Gln Multiple submitters dextro-looped transposition of the great arteries
• p.Met1934Ile Multiple submitters dextro-looped transposition of the great arteries
• p.Met902Thr Multiple submitters Inborn genetic diseases
• p.Met949Val Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1236Thr Multiple submitters Inborn genetic diseases
• p.Pro1487Thr Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1564Leu Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1586= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro405= Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro626Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Pro901_Met902insIle Multiple submitters dextro-looped transposition of the great arteries
• p.Pro926= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1165= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1489= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1566Leu Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1582Thr Multiple submitters dextro-looped transposition of the great arteries
• p.Ser522Gly Multiple submitters dextro-looped transposition of the great arteries
• p.Ser575= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1023= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1253Ile Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1273= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1531= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1618Ser Multiple submitters Inborn genetic diseases
• p.Thr1686= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1923Ile Multiple submitters dextro-looped transposition of the great arteries
• p.Trp683Cys Multiple submitters Inborn genetic diseases
• p.Tyr1110= Multiple submitters dextro-looped transposition of the great arteries
• p.Tyr618Cys Multiple submitters dextro-looped transposition of the great arteries
• p.Val1145= Multiple submitters dextro-looped transposition of the great arteries
• p.Val1294Glu Multiple submitters Inborn genetic diseases ⚠

Likely benign 528

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

• c.1010-4dup Multiple submitters dextro-looped transposition of the great arteries
• c.1175+12C>T Multiple submitters dextro-looped transposition of the great arteries
• c.2470-13C>T Multiple submitters dextro-looped transposition of the great arteries
• c.2570-7T>C Multiple submitters dextro-looped transposition of the great arteries
• c.2996+7A>G Multiple submitters dextro-looped transposition of the great arteries
• c.311-4dup Multiple submitters dextro-looped transposition of the great arteries
• c.3934+3A>G Multiple submitters dextro-looped transposition of the great arteries
• c.395+60A>G Multiple submitters
• c.4114+17G>A Multiple submitters dextro-looped transposition of the great arteries
• c.4339-10A>G Multiple submitters dextro-looped transposition of the great arteries
• c.479+35C>T Multiple submitters
• c.4955+139A>G Multiple submitters
• c.4956-5T>A Multiple submitters dextro-looped transposition of the great arteries
• c.5891-12T>C Multiple submitters dextro-looped transposition of the great arteries
• c.5891-16A>G Multiple submitters dextro-looped transposition of the great arteries
• c.625+41C>T Multiple submitters
• c.626-10C>A Multiple submitters dextro-looped transposition of the great arteries
• c.626-4A>G Multiple submitters dextro-looped transposition of the great arteries
• c.6388-20T>C Multiple submitters dextro-looped transposition of the great arteries
• c.73-7T>C Multiple submitters dextro-looped transposition of the great arteries
• p.Ala1027Thr Multiple submitters Inborn genetic diseases
• p.Ala125= Multiple submitters dextro-looped transposition of the great arteries
• p.Ala1819= Multiple submitters dextro-looped transposition of the great arteries
• p.Ala1939= Multiple submitters dextro-looped transposition of the great arteries
• p.Ala894= Multiple submitters dextro-looped transposition of the great arteries
• p.Arg1251Cys Multiple submitters Inborn genetic diseases
• p.Arg1461His Multiple submitters dextro-looped transposition of the great arteries
• p.Asn1000= Multiple submitters dextro-looped transposition of the great arteries
• p.Asn1032Ser Multiple submitters dextro-looped transposition of the great arteries
• p.Asn1268Asp Multiple submitters Inborn genetic diseases
• p.Asn1495Ser Multiple submitters dextro-looped transposition of the great arteries
• p.Asn439Ser Multiple submitters Inborn genetic diseases
• p.Asn67= Multiple submitters dextro-looped transposition of the great arteries
• p.Asn93Ser Multiple submitters Inborn genetic diseases
• p.Asp1267Glu Multiple submitters Inborn genetic diseases
• p.Cys1854= Multiple submitters dextro-looped transposition of the great arteries
• p.Gln1069= Multiple submitters dextro-looped transposition of the great arteries
• p.Gln1486= Multiple submitters dextro-looped transposition of the great arteries
• p.Gln1644His Multiple submitters Inborn genetic diseases
• p.Gln1745= Multiple submitters dextro-looped transposition of the great arteries
• p.Gly1490Ser Multiple submitters Inborn genetic diseases
• p.His874Pro Multiple submitters dextro-looped transposition of the great arteries
• p.Ile1596= Multiple submitters dextro-looped transposition of the great arteries
• p.Ile774Val Multiple submitters Inborn genetic diseases
• p.Ile978Val Multiple submitters dextro-looped transposition of the great arteries
• p.Leu1038= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu1771= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu191Phe Multiple submitters Inborn genetic diseases
• p.Leu1950= Multiple submitters dextro-looped transposition of the great arteries
• p.Leu589Phe Multiple submitters Inborn genetic diseases
• p.Leu699= Multiple submitters dextro-looped transposition of the great arteries
• p.Lys1216Arg Multiple submitters dextro-looped transposition of the great arteries
• p.Lys254Glu Multiple submitters Inborn genetic diseases
• p.Lys754Glu Multiple submitters dextro-looped transposition of the great arteries
• p.Lys77Arg Multiple submitters dextro-looped transposition of the great arteries
• p.Met323Ile Multiple submitters Inborn genetic diseases
• p.Pro1021= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1086= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1091= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1425= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro1684= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro293= Multiple submitters dextro-looped transposition of the great arteries
• p.Pro764= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1006= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1118= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1373= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1582Phe Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1770Pro Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1791Gly Multiple submitters dextro-looped transposition of the great arteries
• p.Ser1870= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser2116= Multiple submitters dextro-looped transposition of the great arteries
• p.Ser365Leu Multiple submitters Inborn genetic diseases
• p.Ser465Phe Multiple submitters dextro-looped transposition of the great arteries
• p.Ser624Leu Multiple submitters Inborn genetic diseases
• p.Ser741Cys Multiple submitters dextro-looped transposition of the great arteries
• p.Thr1663= Multiple submitters dextro-looped transposition of the great arteries
• p.Thr400Ala Multiple submitters Inborn genetic diseases
• p.Thr737= Multiple submitters dextro-looped transposition of the great arteries
• p.Tyr1245Cys Multiple submitters dextro-looped transposition of the great arteries
• p.Tyr883Cys Multiple submitters dextro-looped transposition of the great arteries
• p.Val1387Ile Multiple submitters Inborn genetic diseases
• p.Val1855Ile Multiple submitters dextro-looped transposition of the great arteries
• p.Val2194= Multiple submitters dextro-looped transposition of the great arteries
• c.1009+20G>A Single submitter dextro-looped transposition of the great arteries
• c.1010-12C>T Single submitter dextro-looped transposition of the great arteries
• c.1010-17A>G Single submitter dextro-looped transposition of the great arteries
• c.1010-6T>G Single submitter dextro-looped transposition of the great arteries
• c.1175+13G>A Single submitter dextro-looped transposition of the great arteries
• c.1176-26A>G Single submitter
• c.1176-9C>A Single submitter dextro-looped transposition of the great arteries
• c.1280+11A>G Single submitter dextro-looped transposition of the great arteries
• c.1280+305T>G Single submitter
• c.1281-15T>C Single submitter dextro-looped transposition of the great arteries
• c.1281-17G>A Single submitter dextro-looped transposition of the great arteries
• c.2012+12C>G Single submitter dextro-looped transposition of the great arteries
• c.2012+48G>A Single submitter
• c.2013-10_2013-9insTG Single submitter dextro-looped transposition of the great arteries
• c.2013-10_2013-9insTTG Single submitter dextro-looped transposition of the great arteries
• c.2013-10_2013-9insTTTTTTTC Single submitter dextro-looped transposition of the great arteries
• c.2013-10T>G Single submitter
• c.2013-12_2013-10del Single submitter
• c.2013-13_2013-10del Single submitter
• c.2013-14_2013-10del Single submitter
• c.2013-14_2013-10dup Single submitter
• c.2013-21_2013-10dup Single submitter
• c.2013-29_2013-21dup Single submitter
• c.2013-29_2013-22dup Single submitter
• c.2013-8_2013-7insTT Single submitter dextro-looped transposition of the great arteries
• c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT Single submitter
• c.2013-9dup Single submitter dextro-looped transposition of the great arteries
• c.2238+13A>T Single submitter dextro-looped transposition of the great arteries
• c.2238+13dup Single submitter dextro-looped transposition of the great arteries
• c.2238+16G>A Single submitter dextro-looped transposition of the great arteries
• c.2239-3_2239-2del Single submitter dextro-looped transposition of the great arteries
• c.2344+13A>G Single submitter dextro-looped transposition of the great arteries
• c.2345-4A>G Single submitter dextro-looped transposition of the great arteries
• c.2345-8T>G Single submitter dextro-looped transposition of the great arteries
• c.2469+11C>T Single submitter dextro-looped transposition of the great arteries
• c.2469+16del Single submitter
• c.2469+18A>G Single submitter dextro-looped transposition of the great arteries
• c.2469+20A>G Single submitter dextro-looped transposition of the great arteries
• c.2469+34C>T Single submitter
• c.2470-12G>A Single submitter dextro-looped transposition of the great arteries
• c.2569+11A>G Single submitter dextro-looped transposition of the great arteries
• c.2569+16T>A Single submitter dextro-looped transposition of the great arteries
• c.2569+8G>A Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2570-107C>T Single submitter
• c.2570-11C>G Single submitter dextro-looped transposition of the great arteries
• c.2570-14T>C Single submitter dextro-looped transposition of the great arteries
• c.2570-15A>T Single submitter dextro-looped transposition of the great arteries
• c.2570-8A>T Single submitter dextro-looped transposition of the great arteries
• c.2790+11A>G Single submitter dextro-looped transposition of the great arteries
• c.2790+12T>C Single submitter dextro-looped transposition of the great arteries
• c.2790+18A>G Single submitter dextro-looped transposition of the great arteries
• c.2791-10G>T Single submitter dextro-looped transposition of the great arteries
• c.2791-15A>G Single submitter dextro-looped transposition of the great arteries
• c.2791-7G>A Single submitter dextro-looped transposition of the great arteries
• c.2997-14T>G Single submitter
• c.2997-159dup Single submitter
• c.310+11dup Single submitter dextro-looped transposition of the great arteries
• c.310+19dup Single submitter
• c.311-10_311-4del Single submitter dextro-looped transposition of the great arteries
• c.311-20T>C Single submitter dextro-looped transposition of the great arteries
• c.311-21_311-16del Single submitter dextro-looped transposition of the great arteries
• c.311-21_311-17del Single submitter dextro-looped transposition of the great arteries
• c.3934+10C>T Single submitter dextro-looped transposition of the great arteries
• c.3935-12C>T Single submitter dextro-looped transposition of the great arteries
• c.3935-17T>C Single submitter dextro-looped transposition of the great arteries
• c.3935-9C>A Single submitter dextro-looped transposition of the great arteries
• c.395+59G>A Single submitter
• c.395+8A>G Single submitter dextro-looped transposition of the great arteries
• c.395+9A>G Single submitter dextro-looped transposition of the great arteries
• c.396-14T>C Single submitter dextro-looped transposition of the great arteries
• c.4114+8C>A Single submitter dextro-looped transposition of the great arteries
• c.4115-10G>C Single submitter
• c.4115-18A>G Single submitter dextro-looped transposition of the great arteries
• c.4339-20G>T Single submitter dextro-looped transposition of the great arteries
• c.4531+17T>C Single submitter dextro-looped transposition of the great arteries
• c.4532-14A>T Single submitter dextro-looped transposition of the great arteries
• c.4532-20C>G Single submitter dextro-looped transposition of the great arteries
• c.4532-257C>G Single submitter
• c.479+16G>A Single submitter dextro-looped transposition of the great arteries
• c.479+18T>C Single submitter dextro-looped transposition of the great arteries
• c.479+19_479+25del Single submitter dextro-looped transposition of the great arteries
• c.479+47G>A Single submitter
• c.479+8T>C Single submitter dextro-looped transposition of the great arteries
• c.480-11C>G Single submitter dextro-looped transposition of the great arteries
• c.480-15T>C Single submitter dextro-looped transposition of the great arteries
• c.480-9C>G Single submitter dextro-looped transposition of the great arteries
• c.480-9C>T Single submitter dextro-looped transposition of the great arteries
• c.4955+13_4955+14insAAT Single submitter dextro-looped transposition of the great arteries
• c.4955+17T>C Single submitter dextro-looped transposition of the great arteries
• c.4956-10C>G Single submitter dextro-looped transposition of the great arteries
• c.4956-7dup Single submitter dextro-looped transposition of the great arteries
• c.5175+11G>A Single submitter dextro-looped transposition of the great arteries
• c.5175+19A>G Single submitter dextro-looped transposition of the great arteries
• c.5176-16G>T Single submitter
• c.5176-8G>A Single submitter dextro-looped transposition of the great arteries
• c.5365-135A>G Single submitter
• c.5365-15T>G Single submitter dextro-looped transposition of the great arteries
• c.5365-16T>C Single submitter dextro-looped transposition of the great arteries
• c.5365-18T>C Single submitter dextro-looped transposition of the great arteries
• c.5365-20G>T Single submitter dextro-looped transposition of the great arteries
• c.5365-22T>A Single submitter
• c.5365-292T>C Single submitter
• c.5589-15T>G Single submitter dextro-looped transposition of the great arteries
• c.5589-17A>G Single submitter dextro-looped transposition of the great arteries
• c.5589-18C>T Single submitter dextro-looped transposition of the great arteries
• c.5589-23_5589-18del Single submitter dextro-looped transposition of the great arteries
• c.5589-29TTCCCC[3] Single submitter dextro-looped transposition of the great arteries
• c.5589-9A>C Single submitter dextro-looped transposition of the great arteries
• c.5589-9A>G Single submitter dextro-looped transposition of the great arteries
• c.5732-15G>A Single submitter dextro-looped transposition of the great arteries
• c.5732-18T>C Single submitter dextro-looped transposition of the great arteries
• c.5890+18A>G Single submitter dextro-looped transposition of the great arteries
• c.5890+77G>A Single submitter
• c.5891-13T>G Single submitter dextro-looped transposition of the great arteries
• c.5891-16A>C Single submitter dextro-looped transposition of the great arteries
• c.5891-171A>G Single submitter
• c.5891-284G>A Single submitter
• c.5891-8C>A Single submitter dextro-looped transposition of the great arteries
• c.6067+16G>A Single submitter dextro-looped transposition of the great arteries
• c.6067+7A>T Single submitter dextro-looped transposition of the great arteries
• c.6068-13C>G Single submitter dextro-looped transposition of the great arteries
• c.6068-17T>C Single submitter dextro-looped transposition of the great arteries
• c.6226-15A>T Single submitter dextro-looped transposition of the great arteries
• c.625+15T>G Single submitter dextro-looped transposition of the great arteries
• c.625+16C>G Single submitter dextro-looped transposition of the great arteries
• c.625+19G>A Single submitter dextro-looped transposition of the great arteries
• c.625+8T>G Single submitter dextro-looped transposition of the great arteries
• c.626-12T>C Single submitter dextro-looped transposition of the great arteries
• c.626-13C>T Single submitter dextro-looped transposition of the great arteries
• c.626-6C>T Single submitter dextro-looped transposition of the great arteries
• c.6387+11_6387+12insCTTAAAGGTTG Single submitter dextro-looped transposition of the great arteries
• c.6387+20A>G Single submitter dextro-looped transposition of the great arteries
• c.6387+8del Single submitter dextro-looped transposition of the great arteries
• c.6388-13G>A Single submitter dextro-looped transposition of the great arteries
• c.6388-17C>T Single submitter dextro-looped transposition of the great arteries
• c.6388-21CT[2] Single submitter dextro-looped transposition of the great arteries
• c.6500+16G>A Single submitter dextro-looped transposition of the great arteries
• c.6500+18C>T Single submitter dextro-looped transposition of the great arteries
• c.6500+7A>G Single submitter
• c.6501-18G>C Single submitter dextro-looped transposition of the great arteries
• c.6501-9C>G Single submitter dextro-looped transposition of the great arteries
• c.73-147C>T Single submitter
• c.73-19A>T Single submitter dextro-looped transposition of the great arteries
• c.820+17T>C Single submitter dextro-looped transposition of the great arteries
• c.821-6T>C Single submitter dextro-looped transposition of the great arteries
• c.*285T>C Single submitter
• p.Ala1042= Single submitter dextro-looped transposition of the great arteries
• p.Ala1238= Single submitter
• p.Ala1278= Single submitter dextro-looped transposition of the great arteries
• p.Ala1472Val Single submitter dextro-looped transposition of the great arteries
• p.Ala1503= Single submitter dextro-looped transposition of the great arteries
• p.Ala1574= Single submitter
• p.Ala1623= Single submitter dextro-looped transposition of the great arteries
• p.Ala1623Val Single submitter dextro-looped transposition of the great arteries
• p.Ala1751= Single submitter dextro-looped transposition of the great arteries
• p.Ala1803= Single submitter dextro-looped transposition of the great arteries
• p.Ala1977= Single submitter dextro-looped transposition of the great arteries
• p.Ala1991= Single submitter
• p.Ala2010= Single submitter dextro-looped transposition of the great arteries
• p.Ala2106= Single submitter dextro-looped transposition of the great arteries
• p.Ala224= Single submitter dextro-looped transposition of the great arteries
• p.Ala49= Single submitter dextro-looped transposition of the great arteries
• p.Ala494= Single submitter dextro-looped transposition of the great arteries
• p.Ala616Gly Single submitter dextro-looped transposition of the great arteries
• p.Ala674= Single submitter dextro-looped transposition of the great arteries
• p.Ala824= Single submitter dextro-looped transposition of the great arteries
• p.Ala851= Single submitter dextro-looped transposition of the great arteries
• p.Ala894Val Single submitter dextro-looped transposition of the great arteries
• p.Arg1045Cys Single submitter intellectual disability ⚠
• p.Arg1055= Single submitter dextro-looped transposition of the great arteries
• p.Arg1090= Single submitter dextro-looped transposition of the great arteries
• p.Arg1199Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1263= Single submitter dextro-looped transposition of the great arteries
• p.Arg1283Trp Single submitter
• p.Arg1325Cys Single submitter Inborn genetic diseases
• p.Arg1345= Single submitter
• p.Arg1406Lys Single submitter dextro-looped transposition of the great arteries
• p.Arg1416Cys Single submitter ⚠
• p.Arg1449= Single submitter dextro-looped transposition of the great arteries
• p.Arg1466Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1507Cys Single submitter dextro-looped transposition of the great arteries
• p.Arg1625= Single submitter dextro-looped transposition of the great arteries
• p.Arg1705= Single submitter dextro-looped transposition of the great arteries
• p.Arg1789Trp Single submitter dextro-looped transposition of the great arteries
• p.Arg1865Gln Single submitter dextro-looped transposition of the great arteries
• p.Arg1933Gln Single submitter dextro-looped transposition of the great arteries
• p.Arg364Lys Single submitter dextro-looped transposition of the great arteries
• p.Arg388= Single submitter dextro-looped transposition of the great arteries
• p.Arg433Cys Single submitter dextro-looped transposition of the great arteries
• p.Arg440Gln Single submitter dextro-looped transposition of the great arteries
• p.Arg637= Single submitter dextro-looped transposition of the great arteries
• p.Arg655= Single submitter dextro-looped transposition of the great arteries
• p.Arg679Gln Single submitter dextro-looped transposition of the great arteries
• p.Arg679Trp Single submitter dextro-looped transposition of the great arteries
• p.Arg784= Single submitter dextro-looped transposition of the great arteries
• p.Arg830His Single submitter dextro-looped transposition of the great arteries
• p.Asn1175= Single submitter dextro-looped transposition of the great arteries
• p.Asn1175Asp Single submitter Inborn genetic diseases
• p.Asn1250Ser Single submitter dextro-looped transposition of the great arteries
• p.Asn1493Thr Single submitter
• p.Asn1567Asp Single submitter dextro-looped transposition of the great arteries
• p.Asn1720= Single submitter dextro-looped transposition of the great arteries
• p.Asn20= Single submitter dextro-looped transposition of the great arteries
• p.Asn2046= Single submitter dextro-looped transposition of the great arteries
• p.Asn2174= Single submitter dextro-looped transposition of the great arteries
• p.Asn408= Single submitter
• p.Asn408Ile Single submitter
• p.Asp1295= Single submitter dextro-looped transposition of the great arteries
• p.Asp1462= Single submitter dextro-looped transposition of the great arteries
• p.Asp1712Asn Single submitter dextro-looped transposition of the great arteries
• p.Asp263= Single submitter dextro-looped transposition of the great arteries
• p.Asp353= Single submitter
• p.Asp657Asn Single submitter dextro-looped transposition of the great arteries
• p.Asp740Glu Single submitter dextro-looped transposition of the great arteries
• p.Asp79His Single submitter Inborn genetic diseases
• p.Asp818Asn Single submitter dextro-looped transposition of the great arteries
• p.Asp841= Single submitter dextro-looped transposition of the great arteries

Uncertain significance 621

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

• c.2997-2A>G Multiple submitters Inborn genetic diseases
• c.820+4A>G Multiple submitters Inborn genetic diseases
• p.Ala1143Val Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ala1434Thr Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ala1443Asp Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ala1540Thr Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ala1623Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala345Asp Multiple submitters Inborn genetic diseases ⚠
• p.Arg1052Gln Multiple submitters ⚠
• p.Arg1416His Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Arg1872Pro Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Arg1933Leu Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Arg277Gly Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg379Gln Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg427Lys Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Arg973Gln Multiple submitters Inborn genetic diseases ⚠
• p.Asn1175Ser Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asn217Thr Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Asp1011Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp1410Glu Multiple submitters ⚠
• p.Asp820Asn Multiple submitters Inborn genetic diseases ⚠
• p.Cys1758Ser Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Cys434del Multiple submitters MED13L-related disorder
• p.Gln1765Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln201Glu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln687His Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln942Glu Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Glu1220Lys Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Glu251Gly Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.His1767Tyr Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.His18Leu Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.His1906Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Ile1421Val Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ile189Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ile1996Val Multiple submitters Inborn genetic diseases
• p.Leu1408Phe Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Leu1548Ser Multiple submitters Inborn genetic diseases ⚠
• p.Leu1724Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu2047Val Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Leu2176Pro Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Leu64Val Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Leu651Arg Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Leu844Phe Multiple submitters Inborn genetic diseases ⚠
• p.Lys1458Arg Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Lys1868Thr Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Lys31Arg Multiple submitters Inborn genetic diseases ⚠
• p.Phe284Ile Multiple submitters Inborn genetic diseases ⚠
• p.Pro1526Ala Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Pro1526Thr Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Pro2193Thr Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser1397Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser1497Tyr Multiple submitters ⚠
• p.Ser1578Cys Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ser1641Gly Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser19Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser2076Arg Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Ser228Ala Multiple submitters Inborn genetic diseases ⚠
• p.Ser747Leu Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ser777Cys Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr1234Ala Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Thr1273Met Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr1476Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr1602Ile Multiple submitters syndromic intellectual disability ⚠
• p.Thr1636Ile Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Thr1686Met Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Thr469Ile Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Thr728Ile Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Thr763Met Multiple submitters ⚠
• p.Tyr1420Cys Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Val1422Ala Multiple submitters dextro-looped transposition of the great arteries ⚠
• p.Val267Met Multiple submitters cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Val269Ile Multiple submitters dextro-looped transposition of the great arteries ⚠
• c.1009+5G>C Single submitter intellectual disability
• c.1010-3del Single submitter dextro-looped transposition of the great arteries
• c.1175+20T>C Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.2470-17A>G Single submitter dextro-looped transposition of the great arteries
• c.2470-5C>G Single submitter
• c.2570-1G>T Single submitter neurodevelopmental disorder
• c.2570-2A>G Single submitter
• c.2570-3T>C Single submitter dextro-looped transposition of the great arteries
• c.2791-3C>T Single submitter dextro-looped transposition of the great arteries
• c.311-6981_311-2924del Single submitter
• c.4114+2T>A Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.4115-7A>T Single submitter
• c.4532-13T>G Single submitter
• c.4955+16A>T Single submitter
• c.4956-3C>T Single submitter dextro-looped transposition of the great arteries
• c.5175+10T>G Single submitter dextro-looped transposition of the great arteries
• c.5175+5C>G Single submitter
• c.6067+5G>A Single submitter
• c.6388-1240G>T Single submitter
• c.72+9C>T Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• c.-6A>G Single submitter
• c.-9dup Single submitter
• p.Ala1083Pro Single submitter dextro-looped transposition of the great arteries
• p.Ala1098Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala1266Val Single submitter ⚠
• p.Ala1366Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ala1472Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1503Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala1574Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala1575del Single submitter
• p.Ala1803Ser Single submitter ⚠
• p.Ala1940Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala1977Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala1991Val Single submitter
• p.Ala2104Ser Single submitter ⚠
• p.Ala2120Val Single submitter ⚠
• p.Ala299Gly Single submitter ⚠
• p.Ala346Pro Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala3Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala451Gly Single submitter ⚠
• p.Ala463Asp Single submitter ⚠
• p.Ala49Thr Single submitter
• p.Ala4Thr Single submitter Inborn genetic diseases ⚠
• p.Ala5Gly Single submitter ⚠
• p.Ala5Val Single submitter Inborn genetic diseases ⚠
• p.Ala610Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala616Val Single submitter Inborn genetic diseases ⚠
• p.Ala658Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala771Thr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala778Val Single submitter ⚠
• p.Ala788Gly Single submitter ⚠
• p.Ala788Val Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Ala792Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala828Val Single submitter dextro-looped transposition of the great arteries ⚠
• p.Ala876Ser Single submitter Inborn genetic diseases ⚠
• p.Ala876Val Single submitter Inborn genetic diseases ⚠
• p.Ala9Val Single submitter ⚠
• p.Arg1045His Single submitter ⚠
• p.Arg1058Lys Single submitter ⚠
• p.Arg1090Leu Single submitter ⚠
• p.Arg1090Trp Single submitter
• p.Arg1159His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1170His Single submitter Inborn genetic diseases ⚠
• p.Arg1199Lys Single submitter ⚠
• p.Arg1199Ser Single submitter Inborn genetic diseases ⚠
• p.Arg1263Trp Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1342Leu Single submitter ⚠
• p.Arg1345Gly Single submitter ⚠
• p.Arg1466Leu Single submitter ⚠
• p.Arg148Gln Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg148Pro Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1625Gly Single submitter Inborn genetic diseases ⚠
• p.Arg1789Pro Single submitter Inborn genetic diseases
• p.Arg1837His Single submitter ⚠
• p.Arg1872His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg1900Gln Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg1903Cys Single submitter ⚠
• p.Arg1903Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg1974Gln Single submitter
• p.Arg2075Gln Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg2080Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2080His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg2148Ser Single submitter dextro-looped transposition of the great arteries
• p.Arg2152Trp Single submitter dextro-looped transposition of the great arteries
• p.Arg2188Cys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg2188His Single submitter ⚠
• p.Arg233Cys Single submitter ⚠
• p.Arg233Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg420Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg433His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg482Gly Single submitter ⚠
• p.Arg534Gly Single submitter Inborn genetic diseases ⚠
• p.Arg564Gln Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg605Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Arg637Ser Single submitter Inborn genetic diseases ⚠
• p.Arg647Gly Single submitter ⚠
• p.Arg671Ser Single submitter ⚠
• p.Arg73Cys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Arg74His Single submitter Inborn genetic diseases ⚠
• p.Arg995Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asn1014Tyr Single submitter ⚠
• p.Asn1032Ile Single submitter Inborn genetic diseases
• p.Asn1093Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asn1154Ser Single submitter ⚠
• p.Asn1268Tyr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1269Ser Single submitter ⚠
• p.Asn1311His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1567Ser Single submitter ⚠
• p.Asn158Asp Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn158Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1629Asp Single submitter ⚠
• p.Asn1629Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1720Lys Single submitter intellectual disability ⚠
• p.Asn1824Asp Single submitter ⚠
• p.Asn1862Lys Single submitter Inborn genetic diseases ⚠
• p.Asn193Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn1986Ser Single submitter ⚠
• p.Asn2014Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asn2052Thr Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asn2108Asp Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn2108Thr Single submitter Inborn genetic diseases ⚠
• p.Asn2149Ser Single submitter ⚠
• p.Asn2182Asp Single submitter ⚠
• p.Asn36Asp Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn387Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn541Ile Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn543Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asn67Asp Single submitter ⚠
• p.Asn730Ser Single submitter ⚠
• p.Asn816Lys Single submitter craniosynostosis ⚠
• p.Asn93Thr Single submitter ⚠
• p.Asn999Ile Single submitter MED13L-related disorder ⚠
• p.Asn999Ser Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp1011Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Asp1125Asn Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asp1151Asn Single submitter
• p.Asp1417Asn Single submitter Inborn genetic diseases
• p.Asp1462Glu Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asp1477Asn Single submitter ⚠
• p.Asp1635Glu Single submitter Inborn genetic diseases ⚠
• p.Asp1669Asn Single submitter Inborn genetic diseases ⚠
• p.Asp16Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asp1738Gly Single submitter Inborn genetic diseases ⚠
• p.Asp1835Asn Single submitter ⚠
• p.Asp1835Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asp1911His Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Asp257Asn Single submitter ⚠
• p.Asp262Glu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp263Asn Single submitter ⚠
• p.Asp291Ala Single submitter Inborn genetic diseases ⚠
• p.Asp416Glu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp42Tyr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp546Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp643Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Asp79Glu Single submitter Inborn genetic diseases ⚠
• p.Asp847Asn Single submitter ⚠
• p.Asp90Gly Single submitter ⚠
• p.Asp996Gly Single submitter
• p.Cys1134Tyr Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys1160Tyr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Cys1204Tyr Single submitter ⚠
• p.Cys165Tyr Single submitter dextro-looped transposition of the great arteries ⚠
• p.Cys1919Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys1993Tyr Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys2117Phe Single submitter ⚠
• p.Cys2191fs Single submitter dextro-looped transposition of the great arteries
• p.Cys423Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys425Ser Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Cys434Arg Single submitter ⚠
• p.Cys43Ser Single submitter Inborn genetic diseases ⚠
• p.Cys656Tyr Single submitter ⚠
• p.Cys970Arg Single submitter ⚠
• p.Gln1157His Single submitter syndromic intellectual disability ⚠
• p.Gln1230Arg Single submitter Inborn genetic diseases ⚠
• p.Gln1335Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1539Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1627Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1650His Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln1745Arg Single submitter ⚠
• p.Gln1745Glu Single submitter ⚠
• p.Gln1821Arg Single submitter ⚠
• p.Gln1877His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1981His Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln1984Arg Single submitter
• p.Gln2006His Single submitter dextro-looped transposition of the great arteries
• p.Gln2093Lys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln2119Arg Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gln2123Arg Single submitter ⚠
• p.Gln390Leu Single submitter ⚠
• p.Gln446His Single submitter Inborn genetic diseases ⚠
• p.Gln52Arg Single submitter ⚠
• p.Gln785Leu Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln862Pro Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gln984= Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Glu1220Gly Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu1296Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu1432Asp Single submitter Inborn genetic diseases ⚠
• p.Glu1446Lys Single submitter ⚠
• p.Glu1491Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu161Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu1690Lys Single submitter Inborn genetic diseases ⚠
• p.Glu1691Asp Single submitter ⚠
• p.Glu1739Lys Single submitter MED13L-related disorder ⚠
• p.Glu1852Gln Single submitter
• p.Glu195_His196delinsAspTyr Single submitter dextro-looped transposition of the great arteries
• p.Glu195Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu2088Ala Single submitter
• p.Glu2143Gly Single submitter ⚠
• p.Glu237Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Glu518Asp Single submitter ⚠
• p.Glu614Lys Single submitter dextro-looped transposition of the great arteries ⚠
• p.Glu645Asp Single submitter ⚠
• p.Glu748Gly Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Glu927Lys Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome
• p.Gly1062Val Single submitter ⚠
• p.Gly1063Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly1063Trp Single submitter
• p.Gly1173Val Single submitter cardiac anomalies - developmental delay - facial dysmorphism syndrome ⚠
• p.Gly1369Ala Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly1372Ser Single submitter
• p.Gly1414Ala Single submitter ⚠
• p.Gly1433Glu Single submitter ⚠
• p.Gly1595Asp Single submitter Inborn genetic diseases ⚠
• p.Gly1606Glu Single submitter Inborn genetic diseases ⚠
• p.Gly1613Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly1619Arg Single submitter dextro-looped transposition of the great arteries ⚠
• p.Gly1907Trp Single submitter ⚠
• p.Gly1957Val Single submitter ⚠