MBD5 — 1806 ClinVar variants

Pathogenic 80

• c.397+1G>A Multiple submitters intellectual disability, autosomal dominant 1
• c.397+2T>C Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1440Ter Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg200Ter Multiple submitters intellectual disability, autosomal dominant 1
• p.Cys60Ter Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln1200fs Multiple submitters Inborn genetic diseases
• p.Gln587Ter Multiple submitters intellectual disability, autosomal dominant 1
• p.Trp1623Ter Multiple submitters intellectual disability, autosomal dominant 1
• c.217-1G>A Single submitter intellectual disability, autosomal dominant 1
• c.217-1G>C Single submitter intellectual disability, autosomal dominant 1
• p.Ala1244fs Single submitter intellectual disability, autosomal dominant 1
• p.Arg1264Ter Single submitter intellectual disability, autosomal dominant 1
• p.Arg1529Ter Single submitter intellectual disability, autosomal dominant 1
• p.Arg200fs Single submitter intellectual disability, autosomal dominant 1
• p.Arg501fs Single submitter intellectual disability, autosomal dominant 1
• p.Asn1579fs Single submitter intellectual disability, autosomal dominant 1
• p.Asn316fs Single submitter intellectual disability, autosomal dominant 1
• p.Asn372fs Single submitter
• p.Asn767fs Single submitter intellectual disability, autosomal dominant 1
• p.Asp1257fs Single submitter intellectual disability, autosomal dominant 1
• p.Cys60fs Single submitter intellectual disability, autosomal dominant 1
• p.Cys66fs Single submitter intellectual disability, autosomal dominant 1
• p.Gln1200Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln1303Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln1477Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln1550fs Single submitter intellectual disability
• p.Gln184Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln201Ter Single submitter
• p.Gln230Ter Single submitter
• p.Gln26Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln334fs Single submitter intellectual disability, autosomal dominant 1
• p.Gln347Ter Single submitter
• p.Gln786Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln943fs Single submitter intellectual disability, autosomal dominant 1
• p.Glu1607Ter Single submitter Inborn genetic diseases
• p.Glu48fs Single submitter intellectual disability, autosomal dominant 1
• p.Glu65fs Single submitter intellectual disability, autosomal dominant 1
• p.Gly179fs Single submitter intellectual disability, autosomal dominant 1
• p.Gly233fs Single submitter intellectual disability, autosomal dominant 1
• p.Gly616Ter Single submitter intellectual disability, autosomal dominant 1
• p.His422fs Single submitter intellectual disability, autosomal dominant 1
• p.Ile237fs Single submitter intellectual disability, autosomal dominant 1
• p.Ile297fs Single submitter intellectual disability, autosomal dominant 1
• p.Leu705fs Single submitter intellectual disability, autosomal dominant 1
• p.Lys114fs Single submitter intellectual disability, autosomal dominant 1
• p.Lys1331Ter Single submitter intellectual disability, autosomal dominant 1
• p.Lys1589fs Single submitter intellectual disability, autosomal dominant 1
• p.Lys5fs Single submitter intellectual disability, autosomal dominant 1
• p.Met396fs Single submitter intellectual disability, autosomal dominant 1
• p.Met675fs Single submitter
• p.Pro121fs Single submitter
• p.Pro1275fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro243fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro542fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro774fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro878fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser127fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser147Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser1577delinsLeuGlnTrpArgLeuTer Single submitter intellectual disability, autosomal dominant 1
• p.Ser1577fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser1645Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser236Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser343fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser40fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser460fs Single submitter intellectual disability
• p.Ser460Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser484fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser550fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser863fs Single submitter intellectual disability, autosomal dominant 1
• p.Thr1190_Leu1191insTer Single submitter intellectual disability, autosomal dominant 1
• p.Thr157fs Single submitter intellectual disability, autosomal dominant 1
• p.Trp25fs Single submitter Inborn genetic diseases
• p.Tyr182Ter Single submitter
• p.Val1335fs Single submitter Paediatric disorders
• p.Val1467fs Single submitter
• p.Val23fs Single submitter
• p.Asn1277fs No assertion criteria intellectual disability, autosomal dominant 1
• p.Pro342Thr No assertion criteria intellectual disability, autosomal dominant 1
• p.Ser1649fs No assertion criteria intellectual disability, autosomal dominant 1
• p.Thr52fs No assertion criteria intellectual disability, autosomal dominant 1

Pathogenic/Likely pathogenic 4

• p.Arg325Ter Multiple submitters intellectual disability
• p.Gln517Ter Multiple submitters MBD5 associated neurodevelopmental disorder
• p.Gln813Ter Multiple submitters intellectual disability, autosomal dominant 1
• p.Trp25Ter Multiple submitters intellectual disability, autosomal dominant 1

Likely pathogenic 43

• c.114-2A>T Single submitter intellectual disability, autosomal dominant 1
• c.217del Single submitter intellectual disability, autosomal dominant 1
• c.397+5G>C Single submitter
• c.4962+2T>C Single submitter intellectual disability, autosomal dominant 1
• c.4963-2del Single submitter intellectual disability, autosomal dominant 1
• c.5037-2A>G Single submitter intellectual disability, autosomal dominant 1
• p.Ala586Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1045Ter Single submitter MBD5-related disorder
• p.Arg252fs Single submitter
• p.Arg494fs Single submitter intellectual disability, autosomal dominant 1
• p.Arg645_Asp646insTer Single submitter
• p.Arg671fs Single submitter intellectual disability, autosomal dominant 1
• p.Arg85fs Single submitter
• p.Asn604fs Single submitter
• p.Asp1065fs Single submitter intellectual disability, autosomal dominant 1
• p.Asp1596_Leu1597insTer Single submitter intellectual disability, autosomal dominant 1
• p.Gln480Ter Single submitter intellectual disability, autosomal dominant 1
• p.Gln564Ter Single submitter intellectual disability, autosomal dominant 1
• p.Glu1256Ter Single submitter
• p.Ile107fs Single submitter intellectual disability, autosomal dominant 1
• p.Leu1071fs Single submitter intellectual disability, autosomal dominant 1
• p.Lys1659Ter Single submitter
• p.Lys331fs Single submitter
• p.Met116fs Single submitter intellectual disability, autosomal dominant 1
• p.Met1Val Single submitter intellectual disability, autosomal dominant 1
• p.Met279fs Single submitter
• p.Met327fs Single submitter MBD5-related disorder
• p.Met417Arg Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro167fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro265fs Single submitter intellectual disability, autosomal dominant 1
• p.Pro313fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser1166fs Single submitter intellectual disability, autosomal dominant 1
• p.Ser1555Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser1604fs Single submitter
• p.Ser277Ter Single submitter intellectual disability, autosomal dominant 1
• p.Ser790fs Single submitter MBD5-related disorder
• p.Ser817Ter Single submitter intellectual disability, autosomal dominant 1
• p.Thr543Ile Single submitter ⚠
• p.Tyr1566Ter Single submitter
• p.Tyr518Ter Single submitter intellectual disability, autosomal dominant 1
• p.Val34Glu Single submitter intellectual disability, autosomal dominant 1
• p.Val443fs Single submitter
• p.Val374fs No assertion criteria intellectual disability, autosomal dominant 1

Conflicting classifications of pathogenicity 142

• c.3754-6T>C Single submitter intellectual disability, autosomal dominant 1
• c.3754-9T>C Single submitter intellectual disability, autosomal dominant 1
• p.Ala118Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1227Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1352Ser Single submitter Inborn genetic diseases ⚠
• p.Ala655Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala857Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala897Thr Single submitter Inborn genetic diseases ⚠
• p.Ala92= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1380Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1380Trp Single submitter Inborn genetic diseases ⚠
• p.Arg1398Gln Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg141Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1440Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1485Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1498Gly Single submitter Inborn genetic diseases ⚠
• p.Arg1529Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1532Trp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1674Gln Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1674Trp Single submitter Inborn genetic diseases ⚠
• p.Arg200Gln Single submitter Inborn genetic diseases ⚠
• p.Arg215His Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg240= Single submitter intellectual disability, autosomal dominant 1
• p.Arg240Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg27His Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg28Cys Single submitter Inborn genetic diseases ⚠
• p.Arg461His Single submitter Inborn genetic diseases ⚠
• p.Arg491Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg657Trp Single submitter Inborn genetic diseases ⚠
• p.Arg671Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1193Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1262Lys Single submitter Inborn genetic diseases ⚠
• p.Asn1466Asp Single submitter Inborn genetic diseases ⚠
• p.Asn269Tyr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn384Asp Single submitter Inborn genetic diseases ⚠
• p.Asn613Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn763Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn777Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn810Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asp11Gly Single submitter Inborn genetic diseases ⚠
• p.Asp1413Val Single submitter Inborn genetic diseases ⚠
• p.Asp1641Asn Single submitter Inborn genetic diseases ⚠
• p.Asp513Asn Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Cys7Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gln1214His Single submitter Inborn genetic diseases ⚠
• p.Gln1226His Single submitter Inborn genetic diseases ⚠
• p.Gln1543= Single submitter intellectual disability, autosomal dominant 1
• p.Gln20= Single submitter Inborn genetic diseases
• p.Gln703His Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gln930Pro Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Glu1548= Single submitter intellectual disability, autosomal dominant 1
• p.Gly1230Glu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gly1489Glu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gly1619= Single submitter Inborn genetic diseases
• p.Gly610Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gly791Arg Single submitter Inborn genetic diseases ⚠
• p.Gly79Glu Single submitter Inborn genetic diseases ⚠
• p.Gly841Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gly876Glu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Gly9Arg Single submitter Inborn genetic diseases ⚠
• p.His1478Asn Single submitter intellectual disability, autosomal dominant 1
• p.His738Arg Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.His760Arg Single submitter Inborn genetic diseases ⚠
• p.His896= Single submitter intellectual disability, autosomal dominant 1
• p.Ile1363Thr Single submitter Inborn genetic diseases ⚠
• p.Ile1492Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ile231Thr Single submitter Inborn genetic diseases ⚠
• p.Ile237Val Single submitter Inborn genetic diseases ⚠
• p.Ile266Val Single submitter Inborn genetic diseases ⚠
• p.Ile323Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ile497Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ile69Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ile848Arg Single submitter Inborn genetic diseases ⚠
• p.Leu1199= Single submitter intellectual disability, autosomal dominant 1
• p.Leu1225Ile Single submitter Inborn genetic diseases ⚠
• p.Leu1545Pro Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Leu1629= Single submitter intellectual disability, autosomal dominant 1
• p.Leu670= Single submitter Inborn genetic diseases
• p.Lys1491Glu Single submitter intellectual disability, autosomal dominant 1
• p.Lys312Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Lys552Arg Single submitter Inborn genetic diseases ⚠
• p.Met1506Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Met321Val Single submitter Inborn genetic diseases ⚠
• p.Met327Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Met417Val Single submitter Inborn genetic diseases ⚠
• p.Met701Val Single submitter Inborn genetic diseases ⚠
• p.Met795Thr Single submitter MBD5-related disorder ⚠
• p.Phe381Leu Single submitter Inborn genetic diseases ⚠
• p.Pro1283Ala Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro1284His Single submitter Inborn genetic diseases ⚠
• p.Pro139Ser Single submitter ⚠
• p.Pro1483Thr Single submitter Inborn genetic diseases ⚠
• p.Pro1552Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro1657His Single submitter Inborn genetic diseases ⚠
• p.Pro224Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro255Ser Single submitter Inborn genetic diseases ⚠
• p.Pro276Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro339Leu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro555Thr Single submitter Inborn genetic diseases ⚠
• p.Pro663Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro809Arg Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Pro878Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1201= Single submitter intellectual disability, autosomal dominant 1
• p.Ser1201Leu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1357Arg Single submitter Inborn genetic diseases ⚠
• p.Ser1420Ala Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1531Arg Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1551Pro Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1557= Single submitter intellectual disability, autosomal dominant 1
• p.Ser1557Asn Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser1577= Single submitter Inborn genetic diseases
• p.Ser1577Asn Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser174Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser435Phe Single submitter intellectual disability, autosomal dominant 1
• p.Ser460Leu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser699Arg Single submitter ⚠
• p.Ser733Phe Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ser771Gly Single submitter Inborn genetic diseases ⚠
• p.Ser806Ala Single submitter Inborn genetic diseases ⚠
• p.Thr1190Asn Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Thr1197Asn Single submitter Inborn genetic diseases ⚠
• p.Thr1197Ile Single submitter Inborn genetic diseases ⚠
• p.Thr1281Ile Single submitter Inborn genetic diseases ⚠
• p.Thr1516= Single submitter intellectual disability, autosomal dominant 1
• p.Thr295Ser Single submitter Inborn genetic diseases ⚠
• p.Thr352Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Thr411Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Thr853Ile Single submitter Inborn genetic diseases ⚠
• p.Thr86= Single submitter intellectual disability, autosomal dominant 1
• p.Tyr1502Cys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Tyr1566Cys Single submitter Inborn genetic diseases
• p.Val1318Ile Single submitter Inborn genetic diseases ⚠
• p.Val1376Asp Single submitter Inborn genetic diseases ⚠
• p.Val1578Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Val1642Ile Single submitter Inborn genetic diseases ⚠
• p.Val23= Single submitter Inborn genetic diseases
• p.Val285Ile Single submitter Inborn genetic diseases ⚠
• p.Val400Ile Single submitter Inborn genetic diseases ⚠
• p.Val759= Single submitter intellectual disability, autosomal dominant 1
• p.Val769Ile Single submitter MBD5-related disorder ⚠
• p.Val769Phe Single submitter Inborn genetic diseases ⚠
• p.Val869Phe Single submitter intellectual disability, autosomal dominant 1 ⚠

Benign 35

• c.2519-18T>G Multiple submitters intellectual disability, autosomal dominant 1
• c.2519-9del Multiple submitters intellectual disability, autosomal dominant 1
• c.3545-51G>A Multiple submitters
• c.398-12C>T Multiple submitters intellectual disability, autosomal dominant 1
• c.4963-136A>G Multiple submitters
• c.4963-56G>A Multiple submitters
• c.4963-57C>T Multiple submitters
• c.-924-89A>C Multiple submitters
• c.*200A>G Multiple submitters
• c.113+221A>G Single submitter
• c.114-168T>G Single submitter
• c.216+48T>A Single submitter
• c.2518+47A>G Single submitter
• c.2519-9dup Single submitter
• c.3545-11del Single submitter intellectual disability, autosomal dominant 1
• c.3754-48dup Single submitter
• c.398-286C>T Single submitter
• c.4962+250A>C Single submitter
• c.5037-198dup Single submitter
• c.5113-6T>G Single submitter intellectual disability, autosomal dominant 1
• c.-1096A>G Single submitter
• c.-557+197A>T Single submitter
• c.-557+247T>C Single submitter
• c.-660A>T Single submitter
• c.-829A>G Single submitter
• p.Arg459= Single submitter intellectual disability, autosomal dominant 1
• p.Asn262Ser Single submitter intellectual disability, autosomal dominant 1
• p.Gly1453Asp Single submitter intellectual disability, autosomal dominant 1
• p.His762Arg Single submitter intellectual disability, autosomal dominant 1
• p.Ile1480Val Single submitter intellectual disability, autosomal dominant 1
• p.Ile953= Single submitter intellectual disability, autosomal dominant 1
• p.Met291Val Single submitter intellectual disability, autosomal dominant 1
• p.Ser842Pro Single submitter intellectual disability, autosomal dominant 1
• p.Thr132= Single submitter intellectual disability, autosomal dominant 1
• p.Val37Ile Single submitter intellectual disability, autosomal dominant 1

Benign/Likely benign 42

• c.217-16G>C Multiple submitters intellectual disability, autosomal dominant 1
• c.2519-10_2519-9del Multiple submitters intellectual disability, autosomal dominant 1
• c.4963-11C>T Multiple submitters intellectual disability, autosomal dominant 1
• c.-556-8T>C Multiple submitters
• c.-831+9dup Multiple submitters
• p.Ala1397Thr Multiple submitters Inborn genetic diseases
• p.Ala546= Multiple submitters Inborn genetic diseases
• p.Ala758= Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1532Gln Multiple submitters Inborn genetic diseases
• p.Asn1069= Multiple submitters
• p.Asn772His Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln1226Pro Multiple submitters Inborn genetic diseases
• p.Gln1248Arg Multiple submitters Inborn genetic diseases
• p.Gln371Glu Multiple submitters Inborn genetic diseases
• p.Glu1411Lys Multiple submitters Inborn genetic diseases
• p.Gly1307Ser Multiple submitters Inborn genetic diseases
• p.Gly1314= Multiple submitters Inborn genetic diseases
• p.Gly1406= Multiple submitters Inborn genetic diseases
• p.Gly800Asp Multiple submitters Inborn genetic diseases
• p.Gly841Ser Multiple submitters Inborn genetic diseases
• p.Ile1265Leu Multiple submitters Inborn genetic diseases
• p.Ile1337Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile752Val Multiple submitters Inborn genetic diseases
• p.Leu99= Multiple submitters Inborn genetic diseases
• p.Pro1294Leu Multiple submitters Inborn genetic diseases
• p.Pro1400Leu Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro721Leu Multiple submitters Inborn genetic diseases
• p.Ser1038Gly Multiple submitters
• p.Ser1362Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ser1374Asn Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser456= Multiple submitters Inborn genetic diseases
• p.Ser512Phe Multiple submitters Inborn genetic diseases
• p.Ser530Asn Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser677Asn Multiple submitters Inborn genetic diseases
• p.Thr157= Multiple submitters Inborn genetic diseases
• p.Thr52= Multiple submitters intellectual disability, autosomal dominant 1
• p.Val1309Ile Multiple submitters intellectual disability, autosomal dominant 1
• p.Val1326= Multiple submitters Inborn genetic diseases
• p.Val1467= Multiple submitters Inborn genetic diseases
• p.Val532= Multiple submitters Inborn genetic diseases
• p.Val759Met Multiple submitters intellectual disability, autosomal dominant 1
• p.Val869Ile Multiple submitters Inborn genetic diseases

Likely benign 528

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

• c.113+14A>G Multiple submitters intellectual disability, autosomal dominant 1
• c.113+4A>G Multiple submitters intellectual disability, autosomal dominant 1
• c.113+9T>G Multiple submitters intellectual disability, autosomal dominant 1
• c.216+15A>G Multiple submitters intellectual disability, autosomal dominant 1
• c.2519-19T>G Multiple submitters intellectual disability, autosomal dominant 1
• c.2519-20T>G Multiple submitters intellectual disability, autosomal dominant 1
• c.3545-10C>G Multiple submitters intellectual disability, autosomal dominant 1
• c.3545-43G>A Multiple submitters
• c.3753+15T>A Multiple submitters intellectual disability, autosomal dominant 1
• c.397+14T>G Multiple submitters intellectual disability, autosomal dominant 1
• c.397+20G>A Multiple submitters intellectual disability, autosomal dominant 1
• c.4963-10C>T Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala1227= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala225= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala609= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala655= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala851Val Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala897Ser Multiple submitters Inborn genetic diseases
• p.Ala92Thr Multiple submitters Inborn genetic diseases
• p.Ala968Asp Multiple submitters
• p.Arg1440= Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1519= Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1527= Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1672His Multiple submitters Inborn genetic diseases
• p.Asn1262= Multiple submitters intellectual disability, autosomal dominant 1
• p.Asn1279= Multiple submitters Inborn genetic diseases
• p.Asn1579= Multiple submitters Inborn genetic diseases
• p.Asn531Asp Multiple submitters Inborn genetic diseases
• p.Asp1640= Multiple submitters intellectual disability, autosomal dominant 1
• p.Asp1699= Multiple submitters intellectual disability, autosomal dominant 1
• p.Asp654= Multiple submitters intellectual disability, autosomal dominant 1
• p.Asp654Val Multiple submitters Inborn genetic diseases ⚠
• p.Asp8= Multiple submitters intellectual disability, autosomal dominant 1
• p.Asp89= Multiple submitters Inborn genetic diseases
• p.Cys315Gly Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln1223= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln1530= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln191= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gln834His Multiple submitters intellectual disability, autosomal dominant 1
• p.Glu1651Lys Multiple submitters Inborn genetic diseases
• p.Glu1665= Multiple submitters intellectual disability, autosomal dominant 1
• p.Glu65= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly1221= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly1230= Multiple submitters Inborn genetic diseases
• p.Gly129Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly1396= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly1432= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly1571= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly606= Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly868= Multiple submitters intellectual disability, autosomal dominant 1
• p.His1405= Multiple submitters intellectual disability, autosomal dominant 1
• p.His1643= Multiple submitters intellectual disability, autosomal dominant 1
• p.His469= Multiple submitters intellectual disability, autosomal dominant 1
• p.His762= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ile1377= Multiple submitters Inborn genetic diseases
• p.Ile1626= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ile486= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ile850Met Multiple submitters intellectual disability, autosomal dominant 1
• p.Leu1036Phe Multiple submitters
• p.Leu1369Pro Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu16Ile Multiple submitters intellectual disability, autosomal dominant 1
• p.Leu667= Multiple submitters intellectual disability, autosomal dominant 1
• p.Leu993= Multiple submitters
• p.Lys1542= Multiple submitters intellectual disability, autosomal dominant 1
• p.Lys1721= Multiple submitters intellectual disability, autosomal dominant 1
• p.Lys61= Multiple submitters intellectual disability, autosomal dominant 1
• p.Phe768= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1057Ser Multiple submitters
• p.Pro1242= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro128= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1294= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1349= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1583= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1650= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1657= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1717= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro196= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro313= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro368= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro508= Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro536Ala Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser1096= Multiple submitters
• p.Ser1317= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser1394= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser1531Ile Multiple submitters Inborn genetic diseases
• p.Ser1645= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser236Leu Multiple submitters Inborn genetic diseases
• p.Ser395= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser456Leu Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser483= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser512= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser601= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser716= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser790= Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser799Trp Multiple submitters Inborn genetic diseases ⚠
• p.Ser917Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Thr1339= Multiple submitters intellectual disability, autosomal dominant 1
• p.Thr304= Multiple submitters Inborn genetic diseases
• p.Thr818= Multiple submitters intellectual disability, autosomal dominant 1
• p.Tyr1445= Multiple submitters intellectual disability, autosomal dominant 1
• p.Tyr1670= Multiple submitters intellectual disability, autosomal dominant 1
• p.Val109= Multiple submitters intellectual disability, autosomal dominant 1
• p.Val1582= Multiple submitters intellectual disability, autosomal dominant 1
• p.Val412Ile Multiple submitters Inborn genetic diseases
• p.Val423= Multiple submitters intellectual disability, autosomal dominant 1
• p.Val443Met Multiple submitters intellectual disability, autosomal dominant 1
• c.113+166_113+167insG Single submitter
• c.113+23_113+25del Single submitter
• c.113+8C>A Single submitter intellectual disability, autosomal dominant 1
• c.113+8C>T Single submitter intellectual disability, autosomal dominant 1
• c.113+9T>C Single submitter intellectual disability, autosomal dominant 1
• c.113+9TTA[2] Single submitter intellectual disability, autosomal dominant 1
• c.114-16dup Single submitter
• c.114-19T>G Single submitter intellectual disability, autosomal dominant 1
• c.114-20T>G Single submitter intellectual disability, autosomal dominant 1
• c.217-18A>G Single submitter intellectual disability, autosomal dominant 1
• c.2518+16A>G Single submitter intellectual disability, autosomal dominant 1
• c.2518+4T>C Single submitter
• c.2518+7T>A Single submitter intellectual disability, autosomal dominant 1
• c.2519-10T>C Single submitter intellectual disability, autosomal dominant 1
• c.2519-16T>G Single submitter intellectual disability, autosomal dominant 1
• c.2519-17T>C Single submitter intellectual disability, autosomal dominant 1
• c.2519-18T>C Single submitter intellectual disability, autosomal dominant 1
• c.2519-6T>C Single submitter intellectual disability, autosomal dominant 1
• c.2519-7A>C Single submitter intellectual disability, autosomal dominant 1
• c.2519-7A>G Single submitter intellectual disability, autosomal dominant 1
• c.2519-8C>T Single submitter intellectual disability, autosomal dominant 1
• c.2519-8del Single submitter intellectual disability, autosomal dominant 1
• c.3753+11C>A Single submitter intellectual disability, autosomal dominant 1
• c.3753+18G>A Single submitter intellectual disability, autosomal dominant 1
• c.3754-11A>C Single submitter
• c.3754-11A>G Single submitter intellectual disability, autosomal dominant 1
• c.3754-15_3754-12del Single submitter intellectual disability, autosomal dominant 1
• c.3754-15G>T Single submitter intellectual disability, autosomal dominant 1
• c.3754-20T>C Single submitter intellectual disability, autosomal dominant 1
• c.397+10A>G Single submitter intellectual disability, autosomal dominant 1
• c.397+10A>T Single submitter intellectual disability, autosomal dominant 1
• c.397+150G>A Single submitter
• c.397+172T>C Single submitter
• c.397+8A>G Single submitter intellectual disability, autosomal dominant 1
• c.398-11T>C Single submitter intellectual disability, autosomal dominant 1
• c.398-18T>C Single submitter intellectual disability, autosomal dominant 1
• c.398-22C>A Single submitter
• c.398-5A>G Single submitter intellectual disability, autosomal dominant 1
• c.398-9T>C Single submitter intellectual disability, autosomal dominant 1
• c.4962+16T>G Single submitter
• c.4962+7C>T Single submitter intellectual disability, autosomal dominant 1
• c.4962+8A>G Single submitter intellectual disability, autosomal dominant 1
• c.4963-14A>G Single submitter intellectual disability, autosomal dominant 1
• c.4963-5C>T Single submitter intellectual disability, autosomal dominant 1
• c.5036+8del Single submitter intellectual disability, autosomal dominant 1
• c.5037-11A>G Single submitter intellectual disability, autosomal dominant 1
• c.5037-12C>T Single submitter intellectual disability, autosomal dominant 1
• c.5037-19T>G Single submitter intellectual disability, autosomal dominant 1
• c.5037-4C>T Single submitter intellectual disability, autosomal dominant 1
• c.5112+11T>G Single submitter intellectual disability, autosomal dominant 1
• c.5112+52G>A Single submitter
• c.5113-10T>G Single submitter intellectual disability, autosomal dominant 1
• c.5113-16A>G Single submitter intellectual disability, autosomal dominant 1
• c.5113-18C>T Single submitter intellectual disability, autosomal dominant 1
• c.5113-19T>C Single submitter intellectual disability, autosomal dominant 1
• c.-1112_-1111insGTT Single submitter
• c.-1114GCTACTGCTGCTGCT[1] Single submitter
• c.-1114GCTACTGCTGCTGCT[3] Single submitter
• c.-557+104G>A Single submitter
• c.-557+6C>A Single submitter
• c.-660A>C Single submitter
• c.-663C>T Single submitter
• c.-693A>G Single submitter
• c.-826A>G Single submitter
• c.-924-3T>C Single submitter
• c.-925+18G>A Single submitter
• c.-933G>A Single submitter
• c.-962+16C>T Single submitter
• c.-973G>A Single submitter
• c.-974A>G Single submitter
• c.*12C>A Single submitter
• c.*50A>G Single submitter
• c.*5G>C Single submitter
• p.Ala1099Thr Single submitter
• p.Ala110= Single submitter intellectual disability, autosomal dominant 1
• p.Ala110Thr Single submitter ⚠
• p.Ala118= Single submitter
• p.Ala1238= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1259Thr Single submitter Inborn genetic diseases
• p.Ala1320Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala134= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1340= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1352Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1361= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1372= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1375= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1541= Single submitter intellectual disability, autosomal dominant 1
• p.Ala1669= Single submitter intellectual disability, autosomal dominant 1
• p.Ala177= Single submitter intellectual disability, autosomal dominant 1
• p.Ala290Gly Single submitter intellectual disability, autosomal dominant 1
• p.Ala345= Single submitter intellectual disability, autosomal dominant 1
• p.Ala455= Single submitter intellectual disability, autosomal dominant 1
• p.Ala481= Single submitter intellectual disability, autosomal dominant 1
• p.Ala571= Single submitter intellectual disability, autosomal dominant 1
• p.Ala628= Single submitter intellectual disability, autosomal dominant 1
• p.Ala725= Single submitter intellectual disability, autosomal dominant 1
• p.Ala729= Single submitter intellectual disability, autosomal dominant 1
• p.Ala851= Single submitter intellectual disability, autosomal dominant 1
• p.Ala875= Single submitter
• p.Ala897= Single submitter
• p.Ala946Gly Single submitter
• p.Arg1045Gln Single submitter
• p.Arg1390= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1395= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1398= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1442= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1498= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1529= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1532= Single submitter intellectual disability, autosomal dominant 1
• p.Arg1614Ser Single submitter Inborn genetic diseases ⚠
• p.Arg1672Cys Single submitter intellectual disability, autosomal dominant 1
• p.Arg1678Ile Single submitter intellectual disability, autosomal dominant 1
• p.Arg1723= Single submitter
• p.Arg1727= Single submitter intellectual disability, autosomal dominant 1
• p.Arg180Lys Single submitter intellectual disability, autosomal dominant 1
• p.Arg200Leu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg202Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg240Met Single submitter Inborn genetic diseases ⚠
• p.Arg27= Single submitter intellectual disability, autosomal dominant 1
• p.Arg325Gln Single submitter intellectual disability, autosomal dominant 1
• p.Arg452= Single submitter intellectual disability, autosomal dominant 1
• p.Arg501= Single submitter intellectual disability, autosomal dominant 1
• p.Arg657= Single submitter intellectual disability, autosomal dominant 1
• p.Arg85= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1077= Single submitter
• p.Asn1077Ser Single submitter
• p.Asn1189= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1212= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1249= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1410= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1466His Single submitter Inborn genetic diseases
• p.Asn1574= Single submitter intellectual disability, autosomal dominant 1
• p.Asn1684= Single submitter intellectual disability, autosomal dominant 1
• p.Asn176= Single submitter intellectual disability, autosomal dominant 1
• p.Asn372= Single submitter intellectual disability, autosomal dominant 1
• p.Asn377Ser Single submitter intellectual disability, autosomal dominant 1
• p.Asn471= Single submitter intellectual disability, autosomal dominant 1
• p.Asn531= Single submitter intellectual disability, autosomal dominant 1
• p.Asn534= Single submitter intellectual disability, autosomal dominant 1
• p.Asn567Ser Single submitter intellectual disability, autosomal dominant 1
• p.Asn570= Single submitter intellectual disability, autosomal dominant 1
• p.Asn598Ser Single submitter intellectual disability, autosomal dominant 1
• p.Asn765= Single submitter intellectual disability, autosomal dominant 1
• p.Asn767= Single submitter intellectual disability, autosomal dominant 1
• p.Asn792= Single submitter intellectual disability, autosomal dominant 1
• p.Asn805= Single submitter intellectual disability, autosomal dominant 1
• p.Asn877Ser Single submitter Inborn genetic diseases
• p.Asn908Lys Single submitter intellectual disability, autosomal dominant 1
• p.Asn954Ser Single submitter intellectual disability, autosomal dominant 1
• p.Asn966Ser Single submitter
• p.Asp1257= Single submitter
• p.Asp1297= Single submitter intellectual disability, autosomal dominant 1
• p.Asp1306= Single submitter intellectual disability, autosomal dominant 1
• p.Asp1327Asn Single submitter intellectual disability, autosomal dominant 1
• p.Asp1365= Single submitter intellectual disability, autosomal dominant 1
• p.Asp1431= Single submitter intellectual disability, autosomal dominant 1
• p.Asp1641= Single submitter intellectual disability, autosomal dominant 1
• p.Asp468His Single submitter Inborn genetic diseases ⚠
• p.Asp513= Single submitter intellectual disability, autosomal dominant 1
• p.Asp57= Single submitter intellectual disability, autosomal dominant 1
• p.Cys1236Phe Single submitter intellectual disability, autosomal dominant 1
• p.Cys66= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1018= Single submitter
• p.Gln1195= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1217= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1220= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1268Pro Single submitter intellectual disability, autosomal dominant 1
• p.Gln1302= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1334= Single submitter intellectual disability, autosomal dominant 1
• p.Gln1530Arg Single submitter intellectual disability, autosomal dominant 1
• p.Gln190= Single submitter intellectual disability, autosomal dominant 1
• p.Gln201= Single submitter intellectual disability, autosomal dominant 1
• p.Gln347= Single submitter intellectual disability, autosomal dominant 1
• p.Gln347His Single submitter intellectual disability, autosomal dominant 1
• p.Gln517= Single submitter intellectual disability, autosomal dominant 1
• p.Gln591= Single submitter intellectual disability, autosomal dominant 1
• p.Gln638= Single submitter intellectual disability, autosomal dominant 1
• p.Gln638Arg Single submitter intellectual disability, autosomal dominant 1
• p.Gln703Arg Single submitter intellectual disability, autosomal dominant 1
• p.Gln813= Single submitter intellectual disability, autosomal dominant 1
• p.Gln866= Single submitter intellectual disability, autosomal dominant 1
• p.Gln882= Single submitter intellectual disability, autosomal dominant 1
• p.Gln943= Single submitter intellectual disability, autosomal dominant 1
• p.Glu1256= Single submitter intellectual disability, autosomal dominant 1
• p.Glu1276= Single submitter intellectual disability, autosomal dominant 1
• p.Glu13Val Single submitter Inborn genetic diseases
• p.Glu1511= Single submitter intellectual disability, autosomal dominant 1
• p.Glu1549= Single submitter intellectual disability, autosomal dominant 1
• p.Glu1693= Single submitter intellectual disability, autosomal dominant 1
• p.Glu6= Single submitter intellectual disability, autosomal dominant 1
• p.Glu757= Single submitter intellectual disability, autosomal dominant 1
• p.Glu88= Single submitter intellectual disability, autosomal dominant 1
• p.Glu895= Single submitter intellectual disability, autosomal dominant 1
• p.Glu952= Single submitter intellectual disability, autosomal dominant 1

Uncertain significance 932

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

• c.113+5G>A Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala1244Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ala143Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ala1689Val Multiple submitters intellectual disability, autosomal dominant 1
• p.Ala455Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ala481Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ala595Val Multiple submitters MBD5-related disorder ⚠
• p.Ala679Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ala725Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ala851Glu Multiple submitters Inborn genetic diseases ⚠
• p.Ala87Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg104Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg1253Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg1264Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg1395Thr Multiple submitters Inborn genetic diseases
• p.Arg1398Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg1442Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg1463Ser Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1674Pro Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg1716Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg215Cys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg252del Multiple submitters intellectual disability, autosomal dominant 1
• p.Arg252Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg28His Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg461Cys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Arg657Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asn1466Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asn418Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Asn570Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asn751Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asn805His Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asn854Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp1306Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp1431Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp1572His Multiple submitters Inborn genetic diseases ⚠
• p.Asp1620Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp248His Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp362Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Asp654Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Cys1581Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Cys164Arg Multiple submitters MBD5-related disorder ⚠
• p.Cys723Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Cys732Trp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Cys793Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Cys7Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln1195Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln1217Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln1302Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln1429Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln1714Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln458Lys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln568Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln652Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln786His Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln866Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln882Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gln943Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Glu1416Lys Multiple submitters Inborn genetic diseases
• p.Glu1514Gln Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Glu615_Thr622del Multiple submitters intellectual disability, autosomal dominant 1
• p.Gly1311Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly1312Cys Multiple submitters Inborn genetic diseases ⚠
• p.Gly1396Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly204Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly24Cys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly3Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly420Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly547Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly58Arg Multiple submitters ⚠
• p.Gly637Trp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly692Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly692Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly694Asp Multiple submitters MBD5-related disorder ⚠
• p.Gly722Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly843Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Gly947Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His1194Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His120Gln Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His267Gln Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His267Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His419Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His469Arg Multiple submitters Inborn genetic diseases ⚠
• p.His617Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His617Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His714Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His770Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His779Arg Multiple submitters Inborn genetic diseases ⚠
• p.His855Gln Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.His896Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ile1492Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ile156Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile172Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ile698Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu273Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu35Ile Multiple submitters intellectual disability, autosomal dominant ⚠
• p.Leu35Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu409Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu557Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu620Ser Multiple submitters Inborn genetic diseases ⚠
• p.Leu631Pro Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu667Met Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Leu898Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Lys1428Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Lys1679Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Lys1719Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Lys1719fs Multiple submitters intellectual disability, autosomal dominant 1
• p.Lys413Glu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met1208Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met1243Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met1356Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met1507Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met1695Val Multiple submitters Inborn genetic diseases
• p.Met1701fs Multiple submitters intellectual disability, autosomal dominant 1
• p.Met314Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met445Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met446Val Multiple submitters MBD5-related disorder ⚠
• p.Met473Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met560Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met623Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met708Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Met708Val Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro1269Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro1284Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro1366Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro1464Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro1613Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro1613Gln Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro1718Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro222Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro272Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro298Leu Multiple submitters MBD5-related disorder ⚠
• p.Pro313Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro333Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro338Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro339His Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro342del Multiple submitters intellectual disability, autosomal dominant 1
• p.Pro342His Multiple submitters Inborn genetic diseases ⚠
• p.Pro365Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro408Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro524Ser Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro626Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro662Gln Multiple submitters Inborn genetic diseases ⚠
• p.Pro753Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro856Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro878Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Pro944Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser1426Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser1557Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser1561Tyr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser159Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser1702Pro Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser287Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser353Cys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser405Gly Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser503Thr Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser537Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser545Pro Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser611Arg Multiple submitters ⚠
• p.Ser707Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser709Arg Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser709Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser716Asn Multiple submitters Inborn genetic diseases ⚠
• p.Ser746Cys Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser771Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser799Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ser842_Gly843del Multiple submitters intellectual disability, autosomal dominant 1
• p.Ser904Asn Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Ter1728Lys Multiple submitters intellectual disability, autosomal dominant 1
• p.Thr1267Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Thr379Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Thr664Met Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Tyr1445Asp Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val385Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val389Ile Multiple submitters ⚠
• p.Val394Ile Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val443Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val680Phe Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val871Ala Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• p.Val892Leu Multiple submitters intellectual disability, autosomal dominant 1 ⚠
• c.114-3C>T Single submitter
• c.114-9T>G Single submitter
• c.2518+5G>A Single submitter
• c.2518+6G>A Single submitter intellectual disability, autosomal dominant 1
• c.3545-3T>C Single submitter intellectual disability, autosomal dominant 1
• c.3753+3A>G Single submitter
• c.398-3C>T Single submitter intellectual disability, autosomal dominant 1
• c.4962+6C>A Single submitter intellectual disability, autosomal dominant 1
• c.4963-10C>A Single submitter
• c.4963-2A>T Single submitter intellectual disability, autosomal dominant 1
• c.5036+6C>T Single submitter intellectual disability, autosomal dominant 1
• c.-924-1G>C Single submitter intellectual disability, autosomal dominant 1
• c.(-925+1_-924-1 Single submitter
• c.*19T>G Single submitter
• p.490PRS[1] Single submitter intellectual disability, autosomal dominant 1
• p.Ala108Thr Single submitter ⚠
• p.Ala1097Ser Single submitter
• p.Ala1227Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1238Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1238Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1244Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1244Val Single submitter
• p.Ala1258Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1329Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1358Gly Single submitter ⚠
• p.Ala1358Val Single submitter ⚠
• p.Ala1372Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1375Glu Single submitter ⚠
• p.Ala1375Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala142Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala1694Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala225Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala260Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala326Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala399Gly Single submitter ⚠
• p.Ala430Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala481Pro Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala527Gly Single submitter ⚠
• p.Ala540Pro Single submitter ⚠
• p.Ala546Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala582Thr Single submitter ⚠
• p.Ala589Glu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala595Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala607Pro Single submitter Inborn genetic diseases ⚠
• p.Ala643Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala643Val Single submitter Inborn genetic diseases ⚠
• p.Ala655Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala734Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala758Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala758Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala764Ser Single submitter ⚠
• p.Ala764Thr Single submitter Inborn genetic diseases ⚠
• p.Ala789Val Single submitter ⚠
• p.Ala81Ser Single submitter Inborn genetic diseases ⚠
• p.Ala849Thr Single submitter ⚠
• p.Ala849Val Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala874Glu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala875Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala875Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Ala92Gly Single submitter ⚠
• p.Ala946Glu Single submitter ⚠
• p.Arg1264Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1390Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1390Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1395Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg141Trp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1463Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1463Trp Single submitter ⚠
• p.Arg146Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg146Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1504Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1512Ile Single submitter ⚠
• p.Arg1519Lys Single submitter ⚠
• p.Arg1713Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg1727Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg180_Leu181delinsSerIle Single submitter intellectual disability, autosomal dominant 1
• p.Arg180Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg202= Single submitter
• p.Arg252Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg270Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg27Cys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg294Gly Single submitter Inborn genetic diseases ⚠
• p.Arg294Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg452Ser Single submitter ⚠
• p.Arg461Leu Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg645Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg659Gly Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Arg755Ser Single submitter Inborn genetic diseases ⚠
• p.Asn1188Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1189Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1193Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1206Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1240Asp Single submitter ⚠
• p.Asn1240Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1241Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1279Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn133Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1381Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1381Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1381Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1402His Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1410Ser Single submitter ⚠
• p.Asn1441Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1441Thr Single submitter ⚠
• p.Asn1441Tyr Single submitter Inborn genetic diseases ⚠
• p.Asn1486Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1500Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1500Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1515Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1560Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1570Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1617Asp Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1617Thr Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1644Ile Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1644Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn1684Tyr Single submitter intellectual disability, autosomal dominant 1
• p.Asn254Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn296Ser Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn316Lys Single submitter intellectual disability, autosomal dominant 1 ⚠
• p.Asn316Thr Single submitter ⚠
• p.Asn32Ser Single submitter Inborn genetic diseases ⚠