NHS — 731 ClinVar variants

All ClinVar germline NHS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

58 Pathogenic · 3 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 45 Conflicting · 67 Benign · 48 Benign/Likely benign · 172 Likely benign · 311 Uncertain significance

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

All NHS variants

Pathogenic 58

p.Arg248Ter Multiple submitters NHS-related disorder
p.Arg394Ter Multiple submitters Nance-Horan syndrome
p.Arg900Ter Multiple submitters Nance-Horan syndrome
p.Gln411Ter Multiple submitters NHS-related disorder
c.565+1G>T Single submitter
c.719-1G>T Single submitter Nance-Horan syndrome
c.853-2A>C Single submitter cataract 40
c.916-2A>T Single submitter Nance-Horan syndrome
p.Ala115fs Single submitter Bilateral congenital or childhood onset cataracts
p.Ala1268fs Single submitter Nance-Horan syndrome
p.Ala133fs Single submitter
p.Arg134fs Single submitter
p.Arg1439Ter Single submitter Nance-Horan syndrome
p.Arg17fs Single submitter Nance-Horan syndrome
p.Asp45fs Single submitter Nance-Horan syndrome
p.Asp488fs Single submitter Nance-Horan syndrome
p.Asp79fs Single submitter Nance-Horan syndrome
p.Cys125fs Single submitter Nance-Horan syndrome
p.Cys125Ter Single submitter Nance-Horan syndrome
p.Cys362fs Single submitter Nance-Horan syndrome
p.Gln168Ter Single submitter Nance-Horan syndrome
p.Gln185Ter Single submitter
p.Gln272Ter Single submitter Nance-Horan syndrome
p.Gln387Ter Single submitter Nance-Horan syndrome
p.Gln39fs Single submitter Nance-Horan syndrome
p.Glu1150fs Single submitter
p.Glu186Ter Single submitter Bilateral congenital or childhood onset cataracts
p.Glu412_Ile413insTer Single submitter
p.Glu93Ter Single submitter Nance-Horan syndrome
p.Gly29fs Single submitter Nance-Horan syndrome
p.Gly793fs Single submitter Nance-Horan syndrome
p.Gly878fs Single submitter
p.His1095fs Single submitter Nance-Horan syndrome
p.His1103fs Single submitter Nance-Horan syndrome
p.His627fs Single submitter
p.His776fs Single submitter Nance-Horan syndrome
p.Leu256fs Single submitter Nance-Horan syndrome
p.Lys1386Ter Single submitter Nance-Horan syndrome
p.Phe1007fs Single submitter Nance-Horan syndrome
p.Pro1082fs Single submitter Inborn genetic diseases
p.Ser1327fs Single submitter Nance-Horan syndrome
p.Ser1384Ter Single submitter
p.Ser1483Cys Single submitter X-linked syndromic intellectual disability
p.Ser418fs Single submitter
p.Ser577fs Single submitter Nance-Horan syndrome
p.Ser818fs Single submitter Nance-Horan syndrome
p.Ser966Ter Single submitter Nance-Horan syndrome
p.Thr347fs Single submitter
p.Thr369fs Single submitter Nance-Horan syndrome
p.Trp339Ter Single submitter
p.Trp826Ter Single submitter Nance-Horan syndrome
c.718+1dup No assertion criteria Nance-Horan syndrome
c.852+1del No assertion criteria Nance-Horan syndrome
c.916-2A>G No assertion criteria Nance-Horan syndrome
p.Cys1229Ter No assertion criteria Developmental cataract
p.Gln39Ter No assertion criteria Nance-Horan syndrome
p.Glu924fs No assertion criteria Developmental cataract
p.Leu1175fs No assertion criteria Nance-Horan syndrome

Pathogenic/Likely pathogenic 3

p.Ala1306fs Multiple submitters Nance-Horan syndrome
p.Asn1220fs Multiple submitters Nance-Horan syndrome
p.Gln80Ter Multiple submitters Nance-Horan syndrome

Likely pathogenic 27

c.1108+1G>A Single submitter cataract 40
c.719-1G>A Single submitter Nance-Horan syndrome
p.Ala117fs Single submitter Nance-Horan syndrome
p.Ala672fs Single submitter cataract 40
p.Arg176fs Single submitter NHS-related disorder
p.Arg468fs Single submitter cataract 40
p.Asn1096fs Single submitter NHS-related disorder
p.Cys1373fs Single submitter NHS-related disorder
p.Cys824Ter Single submitter Nance-Horan syndrome
p.Gln1064Ter Single submitter NHS-related disorder
p.Gln151fs Single submitter Nance-Horan syndrome
p.Gln232Ter Single submitter Nance-Horan syndrome
p.Gln387fs Single submitter X-linked NHS-related disorders
p.Glu1313fs Single submitter Nance-Horan syndrome
p.Glu1318Ter Single submitter NHS-related disorder
p.Glu1395fs Single submitter NHS-related disorder
p.Ile1484fs Single submitter Bilateral congenital or childhood onset cataracts
p.Leu383fs Single submitter NHS-related disorder
p.Lys765fs Single submitter Nance-Horan syndrome
p.Ser1327Ter Single submitter NHS-related disorder
p.Ser643fs Single submitter cataract 40
p.Trp207Ter Single submitter NHS-related disorder
p.Trp302Ter Single submitter Nance-Horan syndrome
p.Val1251fs Single submitter Nance-Horan syndrome
p.Val49fs Single submitter NHS-related disorder
p.Gln82fs No assertion criteria NHS-related disorder
p.Pro216fs No assertion criteria NHS-related disorder

Conflicting classifications of pathogenicity 45

c.565+5G>A Single submitter Nance-Horan syndrome
p.Ala130Thr Single submitter Inborn genetic diseases
p.Ala1385Thr Single submitter Nance-Horan syndrome
p.Ala51Val Single submitter Inborn genetic diseases
p.Ala969Thr Single submitter Inborn genetic diseases
p.Arg1105His Single submitter Nance-Horan syndrome
p.Arg1281His Single submitter Inborn genetic diseases
p.Arg1620= Single submitter Nance-Horan syndrome
p.Arg248Gln Single submitter Nance-Horan syndrome
p.Arg274= Single submitter Nance-Horan syndrome
p.Arg275His Single submitter Inborn genetic diseases
p.Arg392Gln Single submitter Inborn genetic diseases
p.Arg742His Single submitter Inborn genetic diseases
p.Asn1266Lys Single submitter NHS-related disorder
p.Asn905Ser Single submitter Nance-Horan syndrome
p.Asp1297= Single submitter Nance-Horan syndrome
p.Cys381= Single submitter Nance-Horan syndrome
p.Gln410Glu Single submitter Inborn genetic diseases
p.Glu101_Ala112dup Single submitter Inborn genetic diseases
p.Glu108Lys Single submitter Inborn genetic diseases
p.Glu666= Single submitter
p.Gly1017Ser Single submitter Nance-Horan syndrome
p.Gly173= Single submitter Inborn genetic diseases
p.Gly443Arg Single submitter Inborn genetic diseases
p.Ile1363Val Single submitter Inborn genetic diseases
p.Leu256Val Single submitter Inborn genetic diseases
p.Lys489Arg Single submitter Nance-Horan syndrome
p.Pro1129Ala Single submitter Inborn genetic diseases
p.Pro206= Single submitter Inborn genetic diseases
p.Pro34Thr Single submitter Inborn genetic diseases
p.Ser1125Leu Single submitter Inborn genetic diseases
p.Ser1178Gly Single submitter Nance-Horan syndrome
p.Ser1480dup Single submitter Nance-Horan syndrome
p.Ser1646Phe Single submitter Nance-Horan syndrome
p.Ser388Leu Single submitter Nance-Horan syndrome
p.Ser643Leu Single submitter Nance-Horan syndrome
p.Ser918Asn Single submitter Nance-Horan syndrome
p.Ser930Leu Single submitter Nance-Horan syndrome
p.Thr1136= Single submitter Inborn genetic diseases
p.Thr1160Ile Single submitter Inborn genetic diseases
p.Thr1262Met Single submitter Inborn genetic diseases
p.Thr612Met Single submitter Inborn genetic diseases
p.Thr970Met Single submitter Nance-Horan syndrome
p.Val535Met Single submitter Inborn genetic diseases
p.Val683Met Single submitter Nance-Horan syndrome

Benign 67

c.566-52263C>G Multiple submitters
c.566-52382C>A Multiple submitters
c.853-20T>C Multiple submitters
p.Ala707Ser Multiple submitters Inborn genetic diseases
p.Asp1390Asn Multiple submitters Nance-Horan syndrome
p.His944Leu Multiple submitters Inborn genetic diseases
p.Leu1068= Multiple submitters Inborn genetic diseases
p.Phe1340Leu Multiple submitters Inborn genetic diseases
p.Pro104_Ala115del Multiple submitters Inborn genetic diseases
p.Pro1047= Multiple submitters Nance-Horan syndrome
p.Pro1182Leu Multiple submitters Inborn genetic diseases
p.Pro572Ser Multiple submitters Inborn genetic diseases
p.Ser1067= Multiple submitters Inborn genetic diseases
c.4222+18T>C Single submitter Nance-Horan syndrome
c.4223-99TGTT[8] Single submitter
c.566-12C>T Single submitter Nance-Horan syndrome
c.566-13_566-12insG Single submitter Nance-Horan syndrome
c.566-5T>C Single submitter Nance-Horan syndrome
c.718+19G>A Single submitter Nance-Horan syndrome
c.719-88del Single submitter
c.719-89_719-88del Single submitter
c.853-207AAGG[3] Single submitter
c.-555G>A Single submitter
c.*3008T>A Single submitter Nance-Horan syndrome
p.Ala230Thr Single submitter Nance-Horan syndrome
p.Ala771= Single submitter Nance-Horan syndrome
p.Ala895Thr Single submitter Nance-Horan syndrome
p.Arg1191Cys Single submitter Nance-Horan syndrome
p.Arg1620Trp Single submitter Nance-Horan syndrome
p.Arg176= Single submitter
p.Arg204= Single submitter Nance-Horan syndrome
p.Arg273= Single submitter Nance-Horan syndrome
p.Arg462= Single submitter Nance-Horan syndrome
p.Arg501Cys Single submitter Nance-Horan syndrome
p.Arg505Gln Single submitter Nance-Horan syndrome
p.Asn599Ser Single submitter Nance-Horan syndrome
p.Asn896= Single submitter Nance-Horan syndrome
p.Asp1460= Single submitter Nance-Horan syndrome
p.Gln917Lys Single submitter Nance-Horan syndrome
p.Glu924Gly Single submitter Nance-Horan syndrome
p.Gly1120= Single submitter Nance-Horan syndrome
p.Gly481= Single submitter Nance-Horan syndrome
p.Gly816= Single submitter Nance-Horan syndrome
p.Gly86= Single submitter Nance-Horan syndrome
p.His229= Single submitter Nance-Horan syndrome
p.His570= Single submitter Nance-Horan syndrome
p.Leu1474= Single submitter Nance-Horan syndrome
p.Met317Thr Single submitter Nance-Horan syndrome
p.Phe1344Leu Single submitter Nance-Horan syndrome
p.Phe894= Single submitter Nance-Horan syndrome
p.Pro1044= Single submitter Nance-Horan syndrome
p.Pro549Ser Single submitter Nance-Horan syndrome
p.Pro642His Single submitter Nance-Horan syndrome
p.Pro907Leu Single submitter Nance-Horan syndrome
p.Ser111= Single submitter Nance-Horan syndrome
p.Ser1461= Single submitter Nance-Horan syndrome
p.Ser442= Single submitter Nance-Horan syndrome
p.Ser643= Single submitter Nance-Horan syndrome
p.Thr1169Ile Single submitter Nance-Horan syndrome
p.Thr1222= Single submitter Nance-Horan syndrome
p.Thr1512= Single submitter Nance-Horan syndrome
p.Thr284Met Single submitter Nance-Horan syndrome
p.Thr754Ile Single submitter Nance-Horan syndrome
p.Thr970= Single submitter Nance-Horan syndrome
p.Tyr960= Single submitter Nance-Horan syndrome
p.Val190Ile Single submitter Nance-Horan syndrome
p.Val223Met Single submitter Nance-Horan syndrome

Benign/Likely benign 48

c.565+17T>C Multiple submitters Nance-Horan syndrome
c.566-10dup Multiple submitters Nance-Horan syndrome
p.Ala1019= Multiple submitters Nance-Horan syndrome
p.Ala699Val Multiple submitters Inborn genetic diseases
p.Ala865Thr Multiple submitters Inborn genetic diseases
p.Arg1276Ser Multiple submitters Inborn genetic diseases
p.Arg1348His Multiple submitters Inborn genetic diseases
p.Arg583His Multiple submitters Inborn genetic diseases
p.Arg698Gln Multiple submitters Inborn genetic diseases
p.Arg735His Multiple submitters Nance-Horan syndrome
p.Asn864= Multiple submitters Inborn genetic diseases
p.Asp1297Gly Multiple submitters Inborn genetic diseases
p.Asp1351Asn Multiple submitters Inborn genetic diseases
p.Asp491Asn Multiple submitters Inborn genetic diseases
p.Asp931Tyr Multiple submitters Inborn genetic diseases
p.Cys1229= Multiple submitters Inborn genetic diseases
p.Cys222= Multiple submitters Inborn genetic diseases
p.Gln1376His Multiple submitters Nance-Horan syndrome
p.Glu276= Multiple submitters Inborn genetic diseases
p.Glu532= Multiple submitters Inborn genetic diseases
p.Glu911Gly Multiple submitters Inborn genetic diseases
p.Gly1310Val Multiple submitters Nance-Horan syndrome
p.Gly921Asp Multiple submitters Inborn genetic diseases
p.His1104Tyr Multiple submitters Inborn genetic diseases
p.Ile363= Multiple submitters Nance-Horan syndrome
p.Ile978Val Multiple submitters Inborn genetic diseases
p.Met587Thr Multiple submitters Inborn genetic diseases
p.Met888Thr Multiple submitters Nance-Horan syndrome
p.Phe777Ser Multiple submitters Nance-Horan syndrome
p.Pro1438= Multiple submitters Nance-Horan syndrome
p.Pro496Thr Multiple submitters Nance-Horan syndrome
p.Pro552Leu Multiple submitters Nance-Horan syndrome
p.Pro655= Multiple submitters Inborn genetic diseases
p.Pro68= Multiple submitters Nance-Horan syndrome
p.Pro71Ser Multiple submitters Inborn genetic diseases
p.Pro73del Multiple submitters Inborn genetic diseases
p.Ser1361Leu Multiple submitters Inborn genetic diseases
p.Ser1389= Multiple submitters Nance-Horan syndrome
p.Ser1479Asn Multiple submitters Inborn genetic diseases
p.Ser1556Thr Multiple submitters Inborn genetic diseases
p.Ser1559Thr Multiple submitters Nance-Horan syndrome
p.Ser1611Thr Multiple submitters Nance-Horan syndrome
p.Ser665= Multiple submitters Nance-Horan syndrome
p.Thr1072Ile Multiple submitters Nance-Horan syndrome
p.Thr602= Multiple submitters Inborn genetic diseases
p.Thr640Met Multiple submitters Inborn genetic diseases
p.Tyr1359Cys Multiple submitters Inborn genetic diseases
p.Val1320Ala Multiple submitters Nance-Horan syndrome

Likely benign 172

c.4223-47C>T Multiple submitters
c.4349+90A>G Multiple submitters
c.4350-75T>C Multiple submitters
c.566-177A>G Multiple submitters
c.566-52165C>T Multiple submitters
c.718+13G>A Multiple submitters Nance-Horan syndrome
p.Ala117dup Multiple submitters Nance-Horan syndrome
p.Arg247Cys Multiple submitters Inborn genetic diseases
p.Arg280His Multiple submitters Nance-Horan syndrome
p.Arg59= Multiple submitters
p.Asn903= Multiple submitters Nance-Horan syndrome
p.Asp416His Multiple submitters Inborn genetic diseases
p.Gly490Val Multiple submitters Inborn genetic diseases
p.Gly522= Multiple submitters Nance-Horan syndrome
p.His803= Multiple submitters Inborn genetic diseases
p.Lys575Glu Multiple submitters Inborn genetic diseases
p.Pro1086Leu Multiple submitters Inborn genetic diseases
p.Pro322= Multiple submitters Inborn genetic diseases
p.Ser1125= Multiple submitters Inborn genetic diseases
p.Thr1031= Multiple submitters Nance-Horan syndrome
p.Thr1262= Multiple submitters Nance-Horan syndrome
p.Thr1331= Multiple submitters Nance-Horan syndrome
p.Thr1624Met Multiple submitters Nance-Horan syndrome
p.Thr781= Multiple submitters Nance-Horan syndrome
p.Thr897Met Multiple submitters Inborn genetic diseases
p.Val61= Multiple submitters Nance-Horan syndrome
c.1108+12G>T Single submitter Nance-Horan syndrome
c.1108+4T>C Single submitter
c.1109-18C>A Single submitter Nance-Horan syndrome
c.4223-12T>C Single submitter Nance-Horan syndrome
c.4223-7T>C Single submitter Nance-Horan syndrome
c.4223-99TGTT[6] Single submitter
c.4223-99TGTT[9] Single submitter
c.4223-9T>C Single submitter
c.566-13_566-12insA Single submitter Nance-Horan syndrome
c.566-18_566-17del Single submitter Nance-Horan syndrome
c.566-52074G>T Single submitter
c.566-52082C>T Single submitter
c.718+2_718+3dup Single submitter
c.853-299GGAA[2] Single submitter
c.916-17T>C Single submitter Nance-Horan syndrome
p.Ala103= Single submitter Nance-Horan syndrome
p.Ala113= Single submitter Nance-Horan syndrome
p.Ala130= Single submitter Nance-Horan syndrome
p.Ala1597= Single submitter Nance-Horan syndrome
p.Ala27= Single submitter Nance-Horan syndrome
p.Ala356= Single submitter
p.Ala377= Single submitter Nance-Horan syndrome
p.Ala523Thr Single submitter Inborn genetic diseases
p.Ala588= Single submitter
p.Ala63= Single submitter Inborn genetic diseases
p.Ala825Ser Single submitter
p.Ala940= Single submitter Nance-Horan syndrome
p.Ala97= Single submitter
p.Arg1228= Single submitter Nance-Horan syndrome
p.Arg1527= Single submitter
p.Arg162= Single submitter
p.Arg162Leu Single submitter
p.Arg204Cys Single submitter Nance-Horan syndrome
p.Arg321= Single submitter
p.Arg397= Single submitter
p.Arg399del Single submitter Nance-Horan syndrome
p.Arg509= Single submitter Nance-Horan syndrome
p.Arg579= Single submitter Nance-Horan syndrome
p.Asn1099= Single submitter Nance-Horan syndrome
p.Asn1117= Single submitter Nance-Horan syndrome
p.Asn1142Tyr Single submitter Inborn genetic diseases
p.Asn1514= Single submitter Nance-Horan syndrome
p.Asn439= Single submitter
p.Asn715del Single submitter Nance-Horan syndrome
p.Asp1230= Single submitter Nance-Horan syndrome
p.Asp1643= Single submitter Nance-Horan syndrome
p.Asp374= Single submitter Nance-Horan syndrome
p.Asp374Asn Single submitter Nance-Horan syndrome
p.Asp590= Single submitter
p.Asp79= Single submitter Nance-Horan syndrome
p.Cys1267Arg Single submitter
p.Gln1398= Single submitter Inborn genetic diseases
p.Gln1648= Single submitter Nance-Horan syndrome
p.Gln39= Single submitter Nance-Horan syndrome
p.Gln558= Single submitter Nance-Horan syndrome
p.Glu1166Lys Single submitter Inborn genetic diseases
p.Glu1571= Single submitter Nance-Horan syndrome
p.Glu55= Single submitter Nance-Horan syndrome
p.Gly30= Single submitter Inborn genetic diseases
p.Gly469= Single submitter
p.Gly66Ala Single submitter Nance-Horan syndrome
p.Gly696= Single submitter Nance-Horan syndrome
p.Gly863= Single submitter
p.His1350Pro Single submitter Inborn genetic diseases
p.His281Arg Single submitter Inborn genetic diseases
p.His608= Single submitter Nance-Horan syndrome
p.His727Tyr Single submitter Nance-Horan syndrome
p.His832Gln Single submitter Inborn genetic diseases
p.Ile1146= Single submitter
p.Ile1234Val Single submitter Inborn genetic diseases
p.Ile427= Single submitter
p.Leu122= Single submitter Nance-Horan syndrome
p.Leu1311= Single submitter Nance-Horan syndrome
p.Leu136= Single submitter Nance-Horan syndrome
p.Leu149= Single submitter Nance-Horan syndrome
p.Leu1521= Single submitter
p.Leu1552= Single submitter
p.Leu171= Single submitter
p.Leu199= Single submitter Nance-Horan syndrome
p.Leu345= Single submitter Nance-Horan syndrome
p.Leu691= Single submitter
p.Leu709= Single submitter
p.Leu963= Single submitter Nance-Horan syndrome
p.Phe1432Leu Single submitter
p.Pro104_Ala114del Single submitter Nance-Horan syndrome
p.Pro104_Ala116del Single submitter
p.Pro1129= Single submitter Nance-Horan syndrome
p.Pro1370= Single submitter Nance-Horan syndrome
p.Pro1411= Single submitter Nance-Horan syndrome
p.Pro1411Leu Single submitter
p.Pro1543Thr Single submitter Nance-Horan syndrome
p.Pro1608= Single submitter Nance-Horan syndrome
p.Pro189= Single submitter Nance-Horan syndrome
p.Pro21= Single submitter Inborn genetic diseases
p.Pro216Ala Single submitter Inborn genetic diseases
p.Pro255= Single submitter Nance-Horan syndrome
p.Pro301= Single submitter
p.Pro40= Single submitter Nance-Horan syndrome
p.Pro496= Single submitter
p.Pro525= Single submitter
p.Pro549= Single submitter Nance-Horan syndrome
p.Pro552= Single submitter Nance-Horan syndrome
p.Pro64Ser Single submitter Nance-Horan syndrome
p.Pro69Arg Single submitter Nance-Horan syndrome
p.Pro83= Single submitter
p.Pro84= Single submitter
p.Pro849= Single submitter Inborn genetic diseases
p.Pro907= Single submitter Nance-Horan syndrome
p.Pro933= Single submitter
p.Ser1035= Single submitter Nance-Horan syndrome
p.Ser110= Single submitter
p.Ser1361= Single submitter Nance-Horan syndrome
p.Ser1421= Single submitter Nance-Horan syndrome
p.Ser1488= Single submitter Nance-Horan syndrome
p.Ser245= Single submitter Nance-Horan syndrome
p.Ser388= Single submitter Nance-Horan syndrome
p.Ser550Gly Single submitter Inborn genetic diseases
p.Ser551= Single submitter
p.Ser571= Single submitter Nance-Horan syndrome
p.Ser619= Single submitter Nance-Horan syndrome
p.Ser721= Single submitter Nance-Horan syndrome
p.Ser774= Single submitter Nance-Horan syndrome
p.Ser89= Single submitter Nance-Horan syndrome
p.Thr1136Met Single submitter Nance-Horan syndrome
p.Thr1172= Single submitter
p.Thr1264= Single submitter Nance-Horan syndrome
p.Thr1485= Single submitter
p.Thr347= Single submitter Nance-Horan syndrome
p.Thr401= Single submitter Nance-Horan syndrome
p.Thr541= Single submitter
p.Thr602Met Single submitter Nance-Horan syndrome
p.Thr640= Single submitter Nance-Horan syndrome
p.Thr645= Single submitter Nance-Horan syndrome
p.Thr705= Single submitter
p.Thr781Met Single submitter Inborn genetic diseases
p.Thr897= Single submitter Nance-Horan syndrome
p.Thr973= Single submitter Nance-Horan syndrome
p.Thr988Arg Single submitter Nance-Horan syndrome
p.Tyr687Cys Single submitter
p.Tyr759= Single submitter Nance-Horan syndrome
p.Val1152= Single submitter Nance-Horan syndrome
p.Val1583= Single submitter
p.Val201Ala Single submitter Inborn genetic diseases
p.His1350= No assertion criteria NHS-related disorder
p.Pro77Arg No assertion criteria intellectual disability
p.Ser500= No assertion criteria NHS-related disorder

Uncertain significance 311

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

p.Ala117_Val118insAlaAla Multiple submitters Inborn genetic diseases
p.Ala117del Multiple submitters Nance-Horan syndrome
p.Ala564Val Multiple submitters Nance-Horan syndrome
p.Ala745Val Multiple submitters Nance-Horan syndrome
p.Arg162Cys Multiple submitters Inborn genetic diseases
p.Arg176Gly Multiple submitters Nance-Horan syndrome
p.Arg17Trp Multiple submitters Inborn genetic diseases
p.Arg204His Multiple submitters Inborn genetic diseases
p.Arg231Gln Multiple submitters Inborn genetic diseases
p.Arg231Trp Multiple submitters Nance-Horan syndrome
p.Arg392Trp Multiple submitters History of neurodevelopmental disorder
p.Arg43Gly Multiple submitters NHS-related disorder
p.Arg59Gln Multiple submitters Nance-Horan syndrome
p.Arg698Trp Multiple submitters Inborn genetic diseases
p.Asp1230Gly Multiple submitters Nance-Horan syndrome
p.Asp1284His Multiple submitters Inborn genetic diseases
p.Asp182Glu Multiple submitters cataract 40
p.Asp544Tyr Multiple submitters Nance-Horan syndrome
p.Cys1373Tyr Multiple submitters Inborn genetic diseases
p.Gln168Arg Multiple submitters Nance-Horan syndrome
p.Gln336His Multiple submitters Nance-Horan syndrome
p.Glu101Ala Multiple submitters Inborn genetic diseases
p.Glu276Gly Multiple submitters Nance-Horan syndrome
p.Glu941Lys Multiple submitters Inborn genetic diseases
p.Gly370Arg Multiple submitters Nance-Horan syndrome
p.His1088Asn Multiple submitters Inborn genetic diseases
p.His161Arg Multiple submitters Nance-Horan syndrome
p.Ile472Thr Multiple submitters Inborn genetic diseases
p.Pro1044Leu Multiple submitters Nance-Horan syndrome
p.Pro1546His Multiple submitters Nance-Horan syndrome
p.Pro1549His Multiple submitters Inborn genetic diseases
p.Pro322Leu Multiple submitters Inborn genetic diseases
p.Ser1092_Ala1093insSer Multiple submitters Nance-Horan syndrome
p.Ser110_Ala116del Multiple submitters Nance-Horan syndrome
p.Ser1358Thr Multiple submitters Inborn genetic diseases
p.Ser1374Cys Multiple submitters Inborn genetic diseases
p.Ser1528Pro Multiple submitters Nance-Horan syndrome
p.Ser661Leu Multiple submitters Inborn genetic diseases
p.Thr1172Met Multiple submitters Nance-Horan syndrome
p.Thr1595Pro Multiple submitters cataract 40
p.Thr347Met Multiple submitters Nance-Horan syndrome
p.Tyr203Cys Multiple submitters Inborn genetic diseases
p.Val1056Asp Multiple submitters Inborn genetic diseases
p.Val142Leu Multiple submitters Nance-Horan syndrome
p.Val1433Met Multiple submitters Nance-Horan syndrome
p.Val188Ala Multiple submitters Inborn genetic diseases
c.1108+3A>T Single submitter Nance-Horan syndrome
c.1109-8G>A Single submitter
c.4350-5C>G Single submitter Inborn genetic diseases
c.565+5G>C Single submitter Nance-Horan syndrome
c.565+7A>C Single submitter
c.566-100130A>C Single submitter Nance-Horan syndrome
c.566-52355A>G Single submitter cataract 40
c.719-3C>T Single submitter Nance-Horan syndrome
c.719-9C>G Single submitter Nance-Horan syndrome
c.-3G>T Single submitter
p.Ala102Val Single submitter Inborn genetic diseases
p.Ala1132Glu Single submitter Nance-Horan syndrome
p.Ala115_Ala117del Single submitter
p.Ala117_Val118insAlaAlaAla Single submitter Nance-Horan syndrome
p.Ala117Val Single submitter Inborn genetic diseases
p.Ala1207Val Single submitter Inborn genetic diseases
p.Ala1268Thr Single submitter Inborn genetic diseases
p.Ala133Val Single submitter Nance-Horan syndrome
p.Ala1426Thr Single submitter Nance-Horan syndrome
p.Ala146Ser Single submitter Inborn genetic diseases
p.Ala1594Thr Single submitter Nance-Horan syndrome
p.Ala1609Thr Single submitter Nance-Horan syndrome
p.Ala1628Thr Single submitter Nance-Horan syndrome
p.Ala205Thr Single submitter Nance-Horan syndrome
p.Ala20Glu Single submitter Inborn genetic diseases
p.Ala252Thr Single submitter Inborn genetic diseases
p.Ala259Val Single submitter Inborn genetic diseases
p.Ala260Val Single submitter Nance-Horan syndrome
p.Ala32Pro Single submitter Inborn genetic diseases
p.Ala377Val Single submitter
p.Ala4Thr Single submitter
p.Ala817Pro Single submitter
p.Ala904Val Single submitter Inborn genetic diseases
p.Arg1105Cys Single submitter Nance-Horan syndrome
p.Arg1124Ser Single submitter Inborn genetic diseases
p.Arg1144Ser Single submitter Nance-Horan syndrome
p.Arg1228Leu Single submitter Inborn genetic diseases
p.Arg1276Lys Single submitter Nance-Horan syndrome
p.Arg1281Cys Single submitter Inborn genetic diseases
p.Arg134His Single submitter
p.Arg137Pro Single submitter Nance-Horan syndrome
p.Arg144Trp Single submitter Nance-Horan syndrome
p.Arg1453Lys Single submitter Inborn genetic diseases
p.Arg1458del Single submitter
p.Arg1458Ile Single submitter Inborn genetic diseases
p.Arg1498Gly Single submitter
p.Arg1498Lys Single submitter
p.Arg1505Ter Single submitter Nance-Horan syndrome
p.Arg1605Trp Single submitter
p.Arg163Cys Single submitter Inborn genetic diseases
p.Arg17Gln Single submitter Nance-Horan syndrome
p.Arg211Cys Single submitter Inborn genetic diseases
p.Arg211His Single submitter Nance-Horan syndrome
p.Arg242Gln Single submitter Nance-Horan syndrome
p.Arg275Cys Single submitter Nance-Horan syndrome
p.Arg468Thr Single submitter
p.Arg501His Single submitter Nance-Horan syndrome
p.Arg505Trp Single submitter
p.Arg581_Arg583del Single submitter Nance-Horan syndrome
p.Arg586Gln Single submitter intellectual disability
p.Arg59His Single submitter Inborn genetic diseases
p.Arg6Trp Single submitter
p.Arg834Ser Single submitter Inborn genetic diseases
p.Arg859Ser Single submitter
p.Arg886Thr Single submitter
p.Asn1114del Single submitter Nance-Horan syndrome
p.Asn1261Ser Single submitter Nance-Horan syndrome
p.Asn1400Ser Single submitter
p.Asn1514Asp Single submitter Nance-Horan syndrome
p.Asn676Ser Single submitter
p.Asn724Asp Single submitter Nance-Horan syndrome
p.Asn957Asp Single submitter Inborn genetic diseases
p.Asp1004Asn Single submitter Nance-Horan syndrome
p.Asp1204Glu Single submitter Inborn genetic diseases
p.Asp1204Gly Single submitter Nance-Horan syndrome
p.Asp1230Glu Single submitter Inborn genetic diseases
p.Asp1243Val Single submitter Inborn genetic diseases
p.Asp1249Asn Single submitter Nance-Horan syndrome
p.Asp141Glu Single submitter Inborn genetic diseases
p.Asp156His Single submitter Inborn genetic diseases
p.Asp246Tyr Single submitter Nance-Horan syndrome
p.Asp414Gly Single submitter Inborn genetic diseases
p.Asp414Val Single submitter
p.Asp416Glu Single submitter
p.Asp433Glu Single submitter
p.Asp446His Single submitter
p.Asp590Val Single submitter Inborn genetic diseases
p.Asp664Glu Single submitter
p.Asp711His Single submitter Nance-Horan syndrome
p.Asp791Tyr Single submitter Nance-Horan syndrome
p.Asp823Glu Single submitter Nance-Horan syndrome
p.Asp866Asn Single submitter
p.Cys792Gly Single submitter Nance-Horan syndrome
p.Gln151Arg Single submitter
p.Gln185Arg Single submitter Nance-Horan syndrome
p.Gln357= Single submitter
p.Gln387Arg Single submitter Nance-Horan syndrome
p.Gln558His Single submitter Nance-Horan syndrome
p.Gln920His Single submitter
p.Glu1396Lys Single submitter Nance-Horan syndrome
p.Glu1571Asp Single submitter Inborn genetic diseases
p.Glu310Asp Single submitter Inborn genetic diseases
p.Glu48Asp Single submitter Nance-Horan syndrome
p.Glu518Gly Single submitter Nance-Horan syndrome
p.Glu578Lys Single submitter Nance-Horan syndrome
p.Glu647Asp Single submitter Inborn genetic diseases
p.Glu666Gly Single submitter Nance-Horan syndrome
p.Glu722Lys Single submitter
p.Glu872Lys Single submitter Inborn genetic diseases
p.Glu94Val Single submitter Inborn genetic diseases
p.Gly1017Ala Single submitter Inborn genetic diseases
p.Gly1355Asp Single submitter Inborn genetic diseases
p.Gly1399Glu Single submitter
p.Gly173Ser Single submitter Nance-Horan syndrome
p.Gly29Val Single submitter Nance-Horan syndrome
p.Gly42Val Single submitter Nance-Horan syndrome
p.Gly481Ser Single submitter Nance-Horan syndrome
p.Gly511Val Single submitter Nance-Horan syndrome
p.Gly515Arg Single submitter Nance-Horan syndrome
p.Gly632Ala Single submitter Nance-Horan syndrome
p.Gly783Glu Single submitter
p.Gly808Ser Single submitter
p.Gly816Glu Single submitter Nance-Horan syndrome
p.Gly836Arg Single submitter
p.Gly86Arg Single submitter Inborn genetic diseases
p.His1106Tyr Single submitter
p.His1216Tyr Single submitter Inborn genetic diseases
p.His1350Arg Single submitter
p.His1564Arg Single submitter Inborn genetic diseases
p.His281Tyr Single submitter
p.His307Arg Single submitter Nance-Horan syndrome
p.His385= Single submitter
p.His478Leu Single submitter Inborn genetic diseases
p.His730Tyr Single submitter Nance-Horan syndrome
p.His880Asp Single submitter Nance-Horan syndrome
p.Ile1073Val Single submitter
p.Ile1133Val Single submitter Nance-Horan syndrome
p.Ile1146Val Single submitter Nance-Horan syndrome
p.Ile1383Val Single submitter Inborn genetic diseases
p.Ile1417Ser Single submitter Inborn genetic diseases
p.Ile1539Thr Single submitter Inborn genetic diseases
p.Ile195Val Single submitter Nance-Horan syndrome
p.Ile326Val Single submitter Nance-Horan syndrome
p.Ile402Asn Single submitter
p.Ile427Thr Single submitter
p.Leu1063Val Single submitter Nance-Horan syndrome
p.Leu1079Phe Single submitter
p.Leu1094Phe Single submitter Inborn genetic diseases
p.Leu1170Pro Single submitter Inborn genetic diseases
p.Leu122Gln Single submitter Nance-Horan syndrome
p.Leu132Val Single submitter Inborn genetic diseases
p.Leu13Pro Single submitter Inborn genetic diseases
p.Leu1420His Single submitter
p.Leu455Pro Single submitter Nance-Horan syndrome
p.Leu46Val Single submitter Nance-Horan syndrome
p.Leu748Met Single submitter
p.Leu858Ser Single submitter Nance-Horan syndrome
p.Leu890Pro Single submitter Nance-Horan syndrome
p.Lys1051Asn Single submitter Nance-Horan syndrome
p.Lys1051Gln Single submitter Nance-Horan syndrome
p.Lys1053Glu Single submitter Inborn genetic diseases
p.Lys1115Glu Single submitter Inborn genetic diseases
p.Lys1341Thr Single submitter Inborn genetic diseases
p.Lys936Glu Single submitter Nance-Horan syndrome
p.Lys979Arg Single submitter Nance-Horan syndrome
p.Met1210Val Single submitter Nance-Horan syndrome
p.Met317Val Single submitter
p.Met621Thr Single submitter Nance-Horan syndrome
p.Phe1036_Pro1037delinsLeuThr Single submitter Nance-Horan syndrome
p.Phe1036Leu Single submitter Inborn genetic diseases
p.Phe1036Val Single submitter Inborn genetic diseases
p.Phe1040Ser Single submitter Inborn genetic diseases
p.Phe1344Cys Single submitter Nance-Horan syndrome
p.Phe1588Ser Single submitter
p.Phe282Val Single submitter Nance-Horan syndrome
p.Pro1021Leu Single submitter
p.Pro1037Thr Single submitter Inborn genetic diseases
p.Pro104_Ala117del Single submitter Nance-Horan syndrome
p.Pro104Leu Single submitter Inborn genetic diseases
p.Pro10Ser Single submitter Nance-Horan syndrome
p.Pro1127Thr Single submitter Inborn genetic diseases
p.Pro1129Gln Single submitter Nance-Horan syndrome
p.Pro1135Arg Single submitter Inborn genetic diseases
p.Pro1212Thr Single submitter Inborn genetic diseases
p.Pro1473Thr Single submitter Nance-Horan syndrome
p.Pro1549Arg Single submitter
p.Pro183Arg Single submitter
p.Pro19Ser Single submitter Nance-Horan syndrome
p.Pro206Leu Single submitter
p.Pro220= Single submitter
p.Pro221His Single submitter Inborn genetic diseases
p.Pro261Ser Single submitter
p.Pro264Leu Single submitter
p.Pro322Ala Single submitter
p.Pro325Ser Single submitter
p.Pro36Ser Single submitter Nance-Horan syndrome
p.Pro434His Single submitter Nance-Horan syndrome
p.Pro525Arg Single submitter Nance-Horan syndrome
p.Pro64Leu Single submitter Inborn genetic diseases
p.Pro838Ser Single submitter Nance-Horan syndrome
p.Pro849Leu Single submitter Nance-Horan syndrome
p.Pro84Arg Single submitter
p.Pro873Ser Single submitter
p.Ser111Leu Single submitter Inborn genetic diseases
p.Ser1130Pro Single submitter Inborn genetic diseases
p.Ser1244Pro Single submitter
p.Ser1347Asn Single submitter Inborn genetic diseases
p.Ser1415Cys Single submitter Inborn genetic diseases
p.Ser1476Arg Single submitter
p.Ser1477Gly Single submitter Inborn genetic diseases
p.Ser1478_Ser1479delinsAsn Single submitter
p.Ser1480del Single submitter Nance-Horan syndrome
p.Ser1542Gly Single submitter
p.Ser1556Phe Single submitter Nance-Horan syndrome
p.Ser1567Pro Single submitter Nance-Horan syndrome
p.Ser1580Phe Single submitter
p.Ser1590Leu Single submitter Inborn genetic diseases
p.Ser197Asn Single submitter Inborn genetic diseases
p.Ser306Phe Single submitter Inborn genetic diseases
p.Ser403Leu Single submitter Nance-Horan syndrome
p.Ser506Asn Single submitter Nance-Horan syndrome
p.Ser593Asn Single submitter Nance-Horan syndrome
p.Ser598Phe Single submitter Nance-Horan syndrome
p.Ser635Gly Single submitter Nance-Horan syndrome
p.Ser665Leu Single submitter Nance-Horan syndrome
p.Ser704Pro Single submitter Nance-Horan syndrome
p.Ser704Thr Single submitter Nance-Horan syndrome
p.Ser755Asn Single submitter Inborn genetic diseases
p.Ser766Phe Single submitter Nance-Horan syndrome
p.Ser778Leu Single submitter Inborn genetic diseases
p.Thr1033Ala Single submitter Nance-Horan syndrome
p.Thr1169Pro Single submitter Nance-Horan syndrome
p.Thr1171Lys Single submitter
p.Thr1222Ile Single submitter Inborn genetic diseases
p.Thr1560Ile Single submitter
p.Thr1624Arg Single submitter Nance-Horan syndrome
p.Thr284= Single submitter Nance-Horan syndrome
p.Thr648dup Single submitter
p.Thr850Asn Single submitter Nance-Horan syndrome
p.Thr908Ile Single submitter Nance-Horan syndrome
p.Tyr1025Cys Single submitter
p.Tyr203His Single submitter
p.Tyr784Cys Single submitter Inborn genetic diseases
p.Val1110Gly Single submitter Inborn genetic diseases
p.Val1152Leu Single submitter Inborn genetic diseases
p.Val118Ala Single submitter Inborn genetic diseases
p.Val1277Ile Single submitter Inborn genetic diseases
p.Val1303Ile Single submitter
p.Val1320_Asp1321insVal Single submitter
p.Val1353Gly Single submitter
p.Val1431Ala Single submitter Inborn genetic diseases
p.Val1433Leu Single submitter Nance-Horan syndrome
p.Val164Ile Single submitter Nance-Horan syndrome
p.Val201Met Single submitter Inborn genetic diseases