CCDC88A — 1127 ClinVar variants
All ClinVar germline CCDC88A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 502 flagged for review →
31 Pathogenic · 5 Likely pathogenic · 9 Conflicting · 32 Benign · 7 Benign/Likely benign · 527 Likely benign · 516 Uncertain significance
Full CCDC88A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 502
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CCDC88A p.Asn1845Ser Conflicting Single submitter
- CCDC88A p.Ile1565Val Conflicting Single submitter
- CCDC88A p.Ile1833Val Conflicting Single submitter
- CCDC88A p.Ile763Thr Conflicting Single submitter
-
CCDC88A p.Met181Ile
Conflicting
Single submitter
PEHO-like syndrome
- CCDC88A p.Met76Ile Conflicting Single submitter
-
CCDC88A p.Val1696Ile
Conflicting
Single submitter
PEHO syndrome
Predictors lean, ClinVar uncertain 319
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 319
- CCDC88A p.Ala1536Thr Uncertain significance Multiple submitters
- CCDC88A p.Ala158Thr Uncertain significance Multiple submitters
- CCDC88A p.Ala1770Val Uncertain significance Multiple submitters
- CCDC88A p.Ala194Thr Uncertain significance Multiple submitters
- CCDC88A p.Ala72Thr Uncertain significance Multiple submitters
- CCDC88A p.Ala845Gly Uncertain significance Multiple submitters
- CCDC88A p.Arg1169His Uncertain significance Multiple submitters
- CCDC88A p.Arg1367Lys Uncertain significance Multiple submitters
- CCDC88A p.Arg1488Cys Uncertain significance Multiple submitters
- CCDC88A p.Arg1523Lys Uncertain significance Multiple submitters
- CCDC88A p.Arg1667Gln Uncertain significance Multiple submitters
- CCDC88A p.Arg1733Gly Uncertain significance Multiple submitters
- CCDC88A p.Arg1747Gln Uncertain significance Multiple submitters
- CCDC88A p.Arg309Gln Uncertain significance Multiple submitters
- CCDC88A p.Arg480Gln Uncertain significance Multiple submitters
- CCDC88A p.Arg753His Uncertain significance Multiple submitters
- CCDC88A p.Arg994His Uncertain significance Multiple submitters
- CCDC88A p.Asn1597Ser Uncertain significance Multiple submitters
- CCDC88A p.Asn35His Uncertain significance Multiple submitters
- CCDC88A p.Asn512Thr Uncertain significance Multiple submitters
- CCDC88A p.Asn923Ser Uncertain significance Multiple submitters
- CCDC88A p.Asp1763His Uncertain significance Multiple submitters
- CCDC88A p.Asp762His Uncertain significance Multiple submitters
- CCDC88A p.Cys277Ser Uncertain significance Multiple submitters
- CCDC88A p.Gln1433His Uncertain significance Multiple submitters
- CCDC88A p.Gln1869Glu Uncertain significance Multiple submitters
- CCDC88A p.Gln920Lys Uncertain significance Multiple submitters
- CCDC88A p.Gln947Lys Uncertain significance Multiple submitters
- CCDC88A p.Glu1033Asp Uncertain significance Multiple submitters
- CCDC88A p.Glu1665Asp Uncertain significance Multiple submitters
- CCDC88A p.Glu444Lys Uncertain significance Multiple submitters
- CCDC88A p.Glu594Gln Uncertain significance Multiple submitters
- CCDC88A p.Glu616Asp Uncertain significance Multiple submitters
- CCDC88A p.Glu854Asp Uncertain significance Multiple submitters
- CCDC88A p.Glu984Gln Uncertain significance Multiple submitters
- CCDC88A p.Gly1737Val Uncertain significance Multiple submitters
- CCDC88A p.Gly740Ser Uncertain significance Multiple submitters
- CCDC88A p.His1605Asn Uncertain significance Multiple submitters
- CCDC88A p.His452Arg Uncertain significance Multiple submitters
- CCDC88A p.His636Arg Uncertain significance Multiple submitters
- CCDC88A p.Ile1404Met Uncertain significance Multiple submitters
- CCDC88A p.Ile1518Thr Uncertain significance Multiple submitters
- CCDC88A p.Ile591Val Uncertain significance Multiple submitters
- CCDC88A p.Leu1714Ser Uncertain significance Multiple submitters
- CCDC88A p.Leu786Ile Uncertain significance Multiple submitters
- CCDC88A p.Lys1008Arg Uncertain significance Multiple submitters
- CCDC88A p.Lys257Arg Uncertain significance Multiple submitters
- CCDC88A p.Lys610Asn Uncertain significance Multiple submitters
- CCDC88A p.Met1016Thr Uncertain significance Multiple submitters
- CCDC88A p.Met181Val Uncertain significance Multiple submitters
- CCDC88A p.Met284Thr Uncertain significance Multiple submitters
- CCDC88A p.Met791Thr Uncertain significance Multiple submitters
- CCDC88A p.Phe341Tyr Uncertain significance Multiple submitters
- CCDC88A p.Pro1567Ser Uncertain significance Multiple submitters
- CCDC88A p.Pro1740Ser Uncertain significance Multiple submitters
- CCDC88A p.Pro188Thr Uncertain significance Multiple submitters
- CCDC88A p.Ser1545Pro Uncertain significance Multiple submitters
- CCDC88A p.Ser300Thr Uncertain significance Multiple submitters
- CCDC88A p.Ser440Gly Uncertain significance Multiple submitters
- CCDC88A p.Ser577Asn Uncertain significance Multiple submitters
- CCDC88A p.Thr1037Met Uncertain significance Multiple submitters
- CCDC88A p.Thr1098Asn Uncertain significance Multiple submitters
- CCDC88A p.Thr1113Ala Uncertain significance Multiple submitters
- CCDC88A p.Thr1520Ala Uncertain significance Multiple submitters
- CCDC88A p.Thr15Ser Uncertain significance Multiple submitters
- CCDC88A p.Thr1774Ile Uncertain significance Multiple submitters
- CCDC88A p.Thr482Ala Uncertain significance Multiple submitters
-
CCDC88A p.Thr868Ile
Uncertain significance
Multiple submitters
PEHO-like syndrome
- CCDC88A p.Thr903Met Uncertain significance Multiple submitters
- CCDC88A p.Tyr1744Cys Uncertain significance Multiple submitters
- CCDC88A p.Val1716Ala Uncertain significance Multiple submitters
- CCDC88A p.Val894Met Uncertain significance Multiple submitters
- CCDC88A p.Ala1006Val Uncertain significance Single submitter
- CCDC88A p.Ala1060Thr Uncertain significance Single submitter
- CCDC88A p.Ala1529Thr Uncertain significance Single submitter
- CCDC88A p.Ala1602Gly Uncertain significance Single submitter
- CCDC88A p.Ala1634Thr Uncertain significance Single submitter
- CCDC88A p.Ala1812Ser Uncertain significance Single submitter
- CCDC88A p.Ala227Gly Uncertain significance Single submitter
- CCDC88A p.Ala231Val Uncertain significance Single submitter
- CCDC88A p.Ala29Val Uncertain significance Single submitter
- CCDC88A p.Ala302Pro Uncertain significance Single submitter
- CCDC88A p.Ala305Thr Uncertain significance Single submitter
- CCDC88A p.Ala30Ser Uncertain significance Single submitter
- CCDC88A p.Ala314Val Uncertain significance Single submitter
- CCDC88A p.Ala72Val Uncertain significance Single submitter
- CCDC88A p.Ala977Ser Uncertain significance Single submitter
- CCDC88A p.Ala977Val Uncertain significance Single submitter
- CCDC88A p.Arg1032Gln Uncertain significance Single submitter
- CCDC88A p.Arg1088Lys Uncertain significance Single submitter
-
CCDC88A p.Arg1088Thr
Uncertain significance
Single submitter
PEHO-like syndrome
- CCDC88A p.Arg1249Ser Uncertain significance Single submitter
- CCDC88A p.Arg1325Gln Uncertain significance Single submitter
- CCDC88A p.Arg1368Cys Uncertain significance Single submitter
- CCDC88A p.Arg1424His Uncertain significance Single submitter
- CCDC88A p.Arg1524Lys Uncertain significance Single submitter
- CCDC88A p.Arg1549Thr Uncertain significance Single submitter
- CCDC88A p.Arg1579Gly Uncertain significance Single submitter
- CCDC88A p.Arg1617Gly Uncertain significance Single submitter
- CCDC88A p.Arg1651Lys Uncertain significance Single submitter
- CCDC88A p.Arg1651Thr Uncertain significance Single submitter
- CCDC88A p.Arg1755Lys Uncertain significance Single submitter
- CCDC88A p.Arg1759Gln Uncertain significance Single submitter
- CCDC88A p.Arg1791Gly Uncertain significance Single submitter
- CCDC88A p.Arg1804Cys Uncertain significance Single submitter
- CCDC88A p.Arg1804His Uncertain significance Single submitter
- CCDC88A p.Arg242Gln Uncertain significance Single submitter
- CCDC88A p.Arg242Leu Uncertain significance Single submitter
- CCDC88A p.Arg309Leu Uncertain significance Single submitter
- CCDC88A p.Arg321Lys Uncertain significance Single submitter
- CCDC88A p.Arg502Ser Uncertain significance Single submitter
- CCDC88A p.Arg546Lys Uncertain significance Single submitter
- CCDC88A p.Arg611Thr Uncertain significance Single submitter
- CCDC88A p.Arg708Lys Uncertain significance Single submitter
- CCDC88A p.Arg753Cys Uncertain significance Single submitter
- CCDC88A p.Arg941Gln Uncertain significance Single submitter
- CCDC88A p.Arg994Cys Uncertain significance Single submitter
- CCDC88A p.Asn1054Ser Uncertain significance Single submitter
- CCDC88A p.Asn1077Ser Uncertain significance Single submitter
- CCDC88A p.Asn1538Ser Uncertain significance Single submitter
- CCDC88A p.Asn1543Ser Uncertain significance Single submitter
- CCDC88A p.Asn1613Asp Uncertain significance Single submitter
- CCDC88A p.Asn32Ser Uncertain significance Single submitter
- CCDC88A p.Asn35Ser Uncertain significance Single submitter
- CCDC88A p.Asn3Lys Uncertain significance Single submitter
- CCDC88A p.Asn523Lys Uncertain significance Single submitter
- CCDC88A p.Asn650Thr Uncertain significance Single submitter
- CCDC88A p.Asn65Asp Uncertain significance Single submitter
- CCDC88A p.Asn684Ser Uncertain significance Single submitter
- CCDC88A p.Asp1027Glu Uncertain significance Single submitter
- CCDC88A p.Asp1452Gly Uncertain significance Single submitter
- CCDC88A p.Asp1478Glu Uncertain significance Single submitter
- CCDC88A p.Asp1558Ala Uncertain significance Single submitter
- CCDC88A p.Asp1572Ala Uncertain significance Single submitter
- CCDC88A p.Asp1724His Uncertain significance Single submitter
- CCDC88A p.Asp202Asn Uncertain significance Single submitter
- CCDC88A p.Asp310Gly Uncertain significance Single submitter
- CCDC88A p.Asp323Gly Uncertain significance Single submitter
- CCDC88A p.Asp352Gly Uncertain significance Single submitter
- CCDC88A p.Asp484Gly Uncertain significance Single submitter
- CCDC88A p.Asp830Glu Uncertain significance Single submitter
- CCDC88A p.Cys1485Phe Uncertain significance Single submitter
- CCDC88A p.Cys235Ser Uncertain significance Single submitter
- CCDC88A p.Cys715Ser Uncertain significance Single submitter
- CCDC88A p.Gln1018Arg Uncertain significance Single submitter
- CCDC88A p.Gln1117Pro Uncertain significance Single submitter
- CCDC88A p.Gln1440Arg Uncertain significance Single submitter
- CCDC88A p.Gln1504Arg Uncertain significance Single submitter
- CCDC88A p.Gln1649Arg Uncertain significance Single submitter
- CCDC88A p.Gln1697Arg Uncertain significance Single submitter
Predictors split 176
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 176
- CCDC88A p.Ala155Val Uncertain significance Multiple submitters
- CCDC88A p.Arg1414Cys Uncertain significance Multiple submitters
- CCDC88A p.Arg1424Cys Uncertain significance Multiple submitters
- CCDC88A p.Arg290Ser Uncertain significance Multiple submitters
- CCDC88A p.Arg316Gln Uncertain significance Multiple submitters
- CCDC88A p.Arg371His Uncertain significance Multiple submitters
- CCDC88A p.Arg480Trp Uncertain significance Multiple submitters
- CCDC88A p.Asn512Asp Likely benign Multiple submitters
- CCDC88A p.Asp401His Uncertain significance Multiple submitters
- CCDC88A p.Asp424Gly Uncertain significance Multiple submitters
- CCDC88A p.Gln85Glu Uncertain significance Multiple submitters
- CCDC88A p.Glu383Asp Uncertain significance Multiple submitters
- CCDC88A p.Glu671Asp Benign Multiple submitters
- CCDC88A p.His1195Gln Uncertain significance Multiple submitters
- CCDC88A p.Ile339Thr Uncertain significance Multiple submitters
- CCDC88A p.Ile514Ser Uncertain significance Multiple submitters
- CCDC88A p.Lys505Thr Uncertain significance Multiple submitters
- CCDC88A p.Lys535Ile Uncertain significance Multiple submitters
- CCDC88A p.Lys554Asn Uncertain significance Multiple submitters
- CCDC88A p.Met1490Arg Uncertain significance Multiple submitters
- CCDC88A p.Pro1470Ala Uncertain significance Multiple submitters
- CCDC88A p.Ser1092Leu Uncertain significance Multiple submitters
- CCDC88A p.Ser1550Cys Uncertain significance Multiple submitters
- CCDC88A p.Ser1769Cys Uncertain significance Multiple submitters
- CCDC88A p.Ser1871Phe Uncertain significance Multiple submitters
- CCDC88A p.Ser600Gly Uncertain significance Multiple submitters
- CCDC88A p.Thr1304Asn Uncertain significance Multiple submitters
- CCDC88A p.Thr152Ile Uncertain significance Multiple submitters
- CCDC88A p.Thr1819Ile Uncertain significance Multiple submitters
- CCDC88A p.Tyr954Cys Uncertain significance Multiple submitters
- CCDC88A p.Val912Leu Uncertain significance Multiple submitters
- CCDC88A p.Ala158Val Uncertain significance Single submitter
- CCDC88A p.Ala1800Thr Uncertain significance Single submitter
- CCDC88A p.Ala1812Val Uncertain significance Single submitter
- CCDC88A p.Ala258Gly Uncertain significance Single submitter
- CCDC88A p.Ala29Asp Uncertain significance Single submitter
- CCDC88A p.Arg1010Thr Uncertain significance Single submitter
- CCDC88A p.Arg1201Cys Uncertain significance Single submitter
- CCDC88A p.Arg1368His Uncertain significance Single submitter
- CCDC88A p.Arg1412Gly Uncertain significance Single submitter
-
CCDC88A p.Arg144Ser
Uncertain significance
Single submitter
PEHO-like syndrome
- CCDC88A p.Arg1488His Uncertain significance Single submitter
- CCDC88A p.Arg1747Trp Conflicting Single submitter
- CCDC88A p.Arg1817Gln Uncertain significance Single submitter
- CCDC88A p.Arg218Gln Uncertain significance Single submitter
- CCDC88A p.Arg290Met Uncertain significance Single submitter
- CCDC88A p.Arg373His Uncertain significance Single submitter
- CCDC88A p.Arg626Gln Uncertain significance Single submitter
- CCDC88A p.Arg767Thr Uncertain significance Single submitter
- CCDC88A p.Arg882His Likely benign Single submitter
- CCDC88A p.Asn1104Ile Uncertain significance Single submitter
- CCDC88A p.Asn1203Asp Uncertain significance Single submitter
- CCDC88A p.Asn1230Asp Uncertain significance Single submitter
- CCDC88A p.Asn1448Tyr Uncertain significance Single submitter
- CCDC88A p.Asn1474Lys Uncertain significance Single submitter
- CCDC88A p.Asn1538His Uncertain significance Single submitter
- CCDC88A p.Asn384Tyr Uncertain significance Single submitter
- CCDC88A p.Asn489Ile Uncertain significance Single submitter
- CCDC88A p.Asn65Ser Uncertain significance Single submitter
- CCDC88A p.Asn672His Uncertain significance Single submitter
- CCDC88A p.Asn69Ser Uncertain significance Single submitter
- CCDC88A p.Asn799Ile Uncertain significance Single submitter
- CCDC88A p.Asn838Ser Uncertain significance Single submitter
- CCDC88A p.Asn866Lys Uncertain significance Single submitter
- CCDC88A p.Asp1441Gly Uncertain significance Single submitter
- CCDC88A p.Asp180Val Uncertain significance Single submitter
- CCDC88A p.Asp205His Uncertain significance Single submitter
- CCDC88A p.Asp900Gly Uncertain significance Single submitter
- CCDC88A p.Cys655Arg Uncertain significance Single submitter
- CCDC88A p.Gln1009Arg Uncertain significance Single submitter
- CCDC88A p.Gln1127Lys Uncertain significance Single submitter
- CCDC88A p.Gln1223Glu Uncertain significance Single submitter
- CCDC88A p.Gln1380Arg Uncertain significance Single submitter
- CCDC88A p.Gln470His Uncertain significance Single submitter
- CCDC88A p.Gln766Arg Uncertain significance Single submitter
- CCDC88A p.Gln780His Uncertain significance Single submitter
- CCDC88A p.Gln843Arg Uncertain significance Single submitter
- CCDC88A p.Gln95Glu Uncertain significance Single submitter
- CCDC88A p.Glu115Lys Uncertain significance Single submitter
- CCDC88A p.Glu1311Lys Uncertain significance Single submitter
- CCDC88A p.Glu143Ala Uncertain significance Single submitter
- CCDC88A p.Glu1689Lys Uncertain significance Single submitter
- CCDC88A p.Glu1813Lys Uncertain significance Single submitter
- CCDC88A p.Glu203Ala Uncertain significance Single submitter
- CCDC88A p.Glu334Gln Uncertain significance Single submitter
- CCDC88A p.Glu351Gln Uncertain significance Single submitter
- CCDC88A p.Glu598Gly Uncertain significance Single submitter
- CCDC88A p.Glu640Gly Uncertain significance Single submitter
- CCDC88A p.Glu659Ala Uncertain significance Single submitter
- CCDC88A p.Glu711Ala Uncertain significance Single submitter
- CCDC88A p.Glu735Ala Uncertain significance Single submitter
- CCDC88A p.Glu752Lys Uncertain significance Single submitter
- CCDC88A p.Glu790Gln Uncertain significance Single submitter
- CCDC88A p.Glu926Lys Uncertain significance Single submitter
- CCDC88A p.Glu973Gly Uncertain significance Single submitter
- CCDC88A p.Gly1182Glu Uncertain significance Single submitter
- CCDC88A p.Gly624Arg Uncertain significance Single submitter
- CCDC88A p.Gly760Val Uncertain significance Single submitter
- CCDC88A p.His165Arg Uncertain significance Single submitter
- CCDC88A p.His337Pro Uncertain significance Single submitter
- CCDC88A p.His428Arg Uncertain significance Single submitter
- CCDC88A p.Ile1809Met Uncertain significance Single submitter
- CCDC88A p.Ile201Arg Uncertain significance Single submitter
- CCDC88A p.Ile211Val Uncertain significance Single submitter
- CCDC88A p.Ile81Thr Uncertain significance Single submitter
- CCDC88A p.Ile859Met Uncertain significance Single submitter
- CCDC88A p.Ile899Thr Uncertain significance Single submitter
- CCDC88A p.Leu1243Ile Uncertain significance Single submitter
- CCDC88A p.Leu1258Ile Uncertain significance Single submitter
- CCDC88A p.Leu1656Pro Uncertain significance Single submitter
- CCDC88A p.Leu221Pro Uncertain significance Single submitter
- CCDC88A p.Leu510Ile Uncertain significance Single submitter
- CCDC88A p.Leu592Phe Uncertain significance Single submitter
- CCDC88A p.Leu651Phe Uncertain significance Single submitter
- CCDC88A p.Leu675Phe Likely benign Single submitter
- CCDC88A p.Leu675Val Uncertain significance Single submitter
- CCDC88A p.Leu704Phe Uncertain significance Single submitter
- CCDC88A p.Leu803Val Uncertain significance Single submitter
- CCDC88A p.Leu841Ile Uncertain significance Single submitter
- CCDC88A p.Leu893Phe Uncertain significance Single submitter
- CCDC88A p.Leu928Ile Uncertain significance Single submitter
- CCDC88A p.Leu9Phe Uncertain significance Single submitter
- CCDC88A p.Lys1106Asn Uncertain significance Single submitter
- CCDC88A p.Lys1272Arg Uncertain significance Single submitter
- CCDC88A p.Lys1382Gln Uncertain significance Single submitter
- CCDC88A p.Lys324Gln Uncertain significance Single submitter
- CCDC88A p.Lys404Asn Uncertain significance Single submitter
- CCDC88A p.Lys464Asn Uncertain significance Single submitter
- CCDC88A p.Lys583Glu Uncertain significance Single submitter
- CCDC88A p.Lys831Arg Uncertain significance Single submitter
- CCDC88A p.Lys877Glu Uncertain significance Single submitter
- CCDC88A p.Lys891Met Uncertain significance Single submitter
- CCDC88A p.Met100Ile Uncertain significance Single submitter
- CCDC88A p.Met1490Ile Uncertain significance Single submitter
- CCDC88A p.Met1490Lys Uncertain significance Single submitter
- CCDC88A p.Met1499Thr Uncertain significance Single submitter
- CCDC88A p.Met14Val Uncertain significance Single submitter
- CCDC88A p.Met394Thr Uncertain significance Single submitter
- CCDC88A p.Met413Thr Uncertain significance Single submitter
- CCDC88A p.Met52Val Uncertain significance Single submitter
- CCDC88A p.Pro27His Uncertain significance Single submitter
-
CCDC88A p.Ser1176Phe
Uncertain significance
Single submitter
autism spectrum disorder
- CCDC88A p.Ser1186Tyr Uncertain significance Single submitter
- CCDC88A p.Ser1449Cys Uncertain significance Single submitter
- CCDC88A p.Ser1461Asn Uncertain significance Single submitter
- CCDC88A p.Ser1550Phe Uncertain significance Single submitter
- CCDC88A p.Ser1561Phe Uncertain significance Single submitter
- CCDC88A p.Ser1575Asn Uncertain significance Single submitter
- CCDC88A p.Ser1587Arg Uncertain significance Single submitter
- CCDC88A p.Ser1623Asn Uncertain significance Single submitter
All CCDC88A variants
Pathogenic 31
- p.Arg1032Ter Single submitter
- p.Arg242Ter Single submitter
- p.Arg309Ter Single submitter
- p.Arg316Ter Single submitter
- p.Arg551fs Single submitter
- p.Arg842Ter Single submitter
- p.Asn650fs Single submitter
- p.Gln1256Ter Single submitter
- p.Gln247Ter Single submitter
- p.Gln435fs Single submitter
- p.Gln537Ter Single submitter
- p.Gln96Ter Single submitter
- p.Glu1175Ter Single submitter
- p.Glu379Ter Single submitter
- p.Glu638fs Single submitter
- p.Glu711fs Single submitter
- p.Leu126fs Single submitter
- p.Leu298fs Single submitter
- p.Lys1481_Met1482insTer Single submitter
- p.Lys1670fs Single submitter
- p.Lys506fs Single submitter
- p.Lys647_Ile648insTer Single submitter PEHO-like syndrome
- p.Lys998fs Single submitter
- p.Pro1388fs Single submitter PEHO-like syndrome
- p.Ser681delinsLeuValLeuTer Single submitter
- p.Thr678fs Single submitter
- p.Thr850fs Single submitter
- p.Val320fs Single submitter
- p.Thr599fs No assertion criteria PEHO-like syndrome
- p.Thr771_Leu772insTer No assertion criteria PEHO-like syndrome
- p.Trp431Ter No assertion criteria PEHO-like syndrome
Likely pathogenic 5
- c.2998-1G>A Single submitter
- c.4172+1G>T Single submitter
- c.4388-1G>A Single submitter
- c.486+1G>A Single submitter
- p.Gly1318fs Single submitter
Conflicting classifications of pathogenicity 9
- p.Arg1747Trp Single submitter ⚠
- p.Asn1845Ser Single submitter ⚠
- p.Ile1565Val Single submitter ⚠
- p.Ile1833Val Single submitter ⚠
- p.Ile763Thr Single submitter ⚠
- p.Met181Ile Single submitter PEHO-like syndrome ⚠
- p.Met76Ile Single submitter ⚠
- p.Ser870Phe Single submitter ⚠
- p.Val1696Ile Single submitter PEHO syndrome ⚠
Benign 32
- c.1656+8C>T Multiple submitters
- c.344-9C>T Multiple submitters PEHO-like syndrome
- c.3602+20T>C Multiple submitters
- c.4744+85T>G Multiple submitters PEHO-like syndrome
- c.4745-53C>T Multiple submitters PEHO-like syndrome
- c.627+10A>T Multiple submitters
- c.800+31T>A Multiple submitters PEHO-like syndrome
- c.882+20G>A Multiple submitters PEHO-like syndrome
- p.Arg1648Thr Multiple submitters
- p.Glu671Asp Multiple submitters ⚠
- p.Leu1501Val Multiple submitters
- p.Lys1189Arg Multiple submitters
- p.Phe687= Multiple submitters
- p.Thr1304Ala Multiple submitters
- c.1518+11del Single submitter
- c.164+12703C>T Single submitter
- c.1656+15dup Single submitter
- c.274-5del Single submitter
- c.2998-3del Single submitter
- c.3603-9del Single submitter
- c.403-16del Single submitter
- c.5092-7del Single submitter
- c.5092-7dup Single submitter
- p.Ala1085= Single submitter
- p.Asn469= Single submitter
- p.Glu931= Single submitter
- p.Leu1299= Single submitter
- p.Leu679= Single submitter
- p.Lys1854Glu Single submitter
- p.Lys533= Single submitter
- p.Thr1774Ala Single submitter
- p.Val483= Single submitter
Benign/Likely benign 7
- c.403-7A>G Multiple submitters PEHO-like syndrome
- c.883-6G>A Multiple submitters
- p.Arg1201= Multiple submitters
- p.Arg1357= Multiple submitters
- p.Leu79= Multiple submitters
- p.Lys343= Multiple submitters
- p.Tyr1202= Multiple submitters
Likely benign 527
Showing the top 300 by review status; the full set is in the sitemap.
- c.343+8T>G Multiple submitters
- p.Asn512Asp Multiple submitters ⚠
- p.Gly936= Multiple submitters
- p.Leu457= Multiple submitters
- p.Thr210= Multiple submitters
- p.Thr678= Multiple submitters
- c.1041+10A>C Single submitter
- c.1041+10A>T Single submitter
- c.1041+12A>G Single submitter
- c.1041+17A>G Single submitter
- c.1041+20A>G Single submitter
- c.1041+9C>T Single submitter
- c.1042-11_1042-10insC Single submitter
- c.1042-12A>C Single submitter
- c.1042-12A>G Single submitter
- c.1042-15G>T Single submitter
- c.1042-17G>A Single submitter
- c.1042-4A>G Single submitter
- c.1188+12G>A Single submitter
- c.1188+15G>A Single submitter
- c.1188+7T>G Single submitter
- c.1189-12C>T Single submitter
- c.1189-16C>T Single submitter
- c.1189-20A>C Single submitter
- c.1189-8_1189-7delinsAT Single submitter
- c.1333+10A>G Single submitter
- c.1333+17T>A Single submitter
- c.1333+18A>G Single submitter
- c.1333+20T>G Single submitter
- c.1334-12T>C Single submitter
- c.1334-16T>A Single submitter
- c.1334-20T>A Single submitter
- c.1334-5_1334-3del Single submitter
- c.1518+13G>A Single submitter
- c.1518+16G>A Single submitter
- c.1518+18G>A Single submitter
- c.1519-6C>T Single submitter
- c.164+12786C>T Single submitter
- c.164+9T>C Single submitter
- c.165-13G>C Single submitter
- c.165-17T>C Single submitter
- c.165-19A>G Single submitter
- c.1656+13T>A Single submitter
- c.1656+16del Single submitter
- c.1657-18A>G Single submitter
- c.1657-8C>A Single submitter
- c.2727+15C>T Single submitter
- c.2727+16T>G Single submitter
- c.2727+18_2727+19insATTTACCTAATTTACCT Single submitter
- c.2727+5AT[3] Single submitter
- c.2727+9G>A Single submitter
- c.2728-18C>T Single submitter
- c.273+7_273+16del Single submitter
- c.274-12A>G Single submitter
- c.274-12A>T Single submitter
- c.274-13T>C Single submitter
- c.274-16G>T Single submitter
- c.274-18T>C Single submitter
- c.274-20T>C Single submitter
- c.274-4A>G Single submitter
- c.274-6T>A Single submitter
- c.274-6T>G Single submitter
- c.2855+15T>C Single submitter
- c.2855+17C>A Single submitter
- c.2855+19T>C Single submitter
- c.2856-14T>G Single submitter
- c.2856-1G>A Single submitter
- c.2856-1G>C Single submitter
- c.2856-3T>C Single submitter
- c.2856-5G>A Single submitter
- c.2997+17G>T Single submitter
- c.2998-15T>C Single submitter
- c.2998-18T>C Single submitter
- c.2998-7A>C Single submitter
- c.3162+14A>C Single submitter
- c.3163-11T>G Single submitter
- c.3163-6T>G Single submitter
- c.3324+10_3324+11del Single submitter
- c.3324+11A>C Single submitter
- c.3324+12A>G Single submitter
- c.3324+13del Single submitter
- c.3324+17T>A Single submitter
- c.3324+19G>C Single submitter
- c.3324+20G>T Single submitter
- c.3324+7A>G Single submitter
- c.3325-13T>C Single submitter
- c.3325-16A>G Single submitter
- c.3325-18C>A Single submitter
- c.3325-18C>G Single submitter
- c.343+11_343+13del Single submitter
- c.343+8T>C Single submitter
- c.344-12T>C Single submitter
- c.344-14T>C Single submitter
- c.344-7A>G Single submitter
- c.3602+10_3602+12del Single submitter
- c.3602+11A>G Single submitter
- c.3602+12T>C Single submitter
- c.3603-14T>C Single submitter
- c.3603-15C>T Single submitter
- c.3603-16C>A Single submitter
- c.3603-16C>G Single submitter
- c.3603-19A>G Single submitter
- c.3603-4C>A Single submitter
- c.3603-8C>T Single submitter
- c.3746+11T>C Single submitter
- c.3746+12A>G Single submitter
- c.3746+16_3746+22del Single submitter
- c.3746+19A>T Single submitter
- c.3746+7_3746+10del Single submitter
- c.3746+8AT[3] Single submitter
- c.3747-15G>C Single submitter
- c.3747-17A>G Single submitter
- c.3747-17A>T Single submitter
- c.3933+10A>C Single submitter
- c.3933+14_3933+19del Single submitter
- c.3933+14del Single submitter
- c.3933+14G>T Single submitter
- c.3933+18A>C Single submitter
- c.3934-16G>A Single submitter
- c.3934-16G>C Single submitter
- c.3934-8T>C Single submitter
- c.402+11A>C Single submitter
- c.402+11A>G Single submitter
- c.402+18_402+27del Single submitter
- c.402+20C>T Single submitter
- c.403-12C>G Single submitter
- c.403-15A>G Single submitter
- c.403-18T>G Single submitter
- c.403-19T>C Single submitter
- c.403-5T>A Single submitter
- c.4172+12C>A Single submitter
- c.4172+14A>C Single submitter
- c.4173-13A>T Single submitter
- c.4173-5G>T Single submitter
- c.4387+14C>T Single submitter
- c.4387+20A>G Single submitter
- c.4387+9T>C Single submitter
- c.4388-12C>G Single submitter
- c.4388-12C>T Single submitter
- c.4471+10T>C Single submitter
- c.4471+17G>C Single submitter
- c.4472-5C>G Single submitter
- c.4472-6T>C Single submitter
- c.4672+10G>C Single submitter
- c.4672+17A>C Single submitter
- c.4672+17A>G Single submitter
- c.4672+18T>C Single submitter
- c.4672+20T>C Single submitter
- c.4673-8T>C Single submitter
- c.4744+14C>A Single submitter
- c.4744+18A>C Single submitter
- c.4744+19T>C Single submitter
- c.4745-12T>G Single submitter
- c.4745-14G>C Single submitter
- c.4745-15G>C Single submitter
- c.4745-17C>T Single submitter
- c.4745-20C>T Single submitter
- c.4825+15A>G Single submitter
- c.4825+19T>G Single submitter
- c.4826-15C>T Single submitter
- c.4826-20C>T Single submitter
- c.4826-4A>C Single submitter
- c.4826-7C>T Single submitter
- c.486+11A>T Single submitter
- c.486+12T>C Single submitter
- c.486+13A>T Single submitter
- c.486+14T>G Single submitter
- c.486+15A>G Single submitter
- c.486+18A>G Single submitter
- c.486+19T>C Single submitter
- c.486+7A>G Single submitter
- c.486+7A>T Single submitter
- c.486+9A>G Single submitter
- c.487-13C>T Single submitter
- c.5091+13T>C Single submitter
- c.5091+16G>C Single submitter
- c.5091+9del Single submitter
- c.5091+9T>G Single submitter
- c.5092-11T>G Single submitter
- c.5092-15T>C Single submitter
- c.5092-20T>A Single submitter
- c.5092-22_5092-20del Single submitter
- c.5551+10A>G Single submitter
- c.5551+17C>T Single submitter
- c.5551+7dup Single submitter
- c.5551+9C>T Single submitter
- c.628-12_628-9del Single submitter
- c.628-17T>C Single submitter
- c.628-20G>A Single submitter
- c.628-8A>G Single submitter
- c.628-8A>T Single submitter
- c.63+10G>A Single submitter
- c.63+13T>G Single submitter
- c.63+15C>A Single submitter
- c.63+20T>C Single submitter
- c.64-11G>C Single submitter
- c.64-17C>G Single submitter
- c.64-8_64-5del Single submitter
- c.64-9_64-5del Single submitter
- c.800+13T>C Single submitter
- c.800+20G>A Single submitter
- c.801-21_801-18del Single submitter
- c.801-9G>T Single submitter
- c.882+12G>C Single submitter
- c.882+18C>T Single submitter
- c.883-13A>C Single submitter
- c.883-15T>A Single submitter
- p.Ala1064= Single submitter
- p.Ala132= Single submitter
- p.Ala155= Single submitter
- p.Ala157= Single submitter
- p.Ala1582= Single submitter
- p.Ala1586= Single submitter
- p.Ala1609= Single submitter
- p.Ala1770= Single submitter
- p.Ala1805= Single submitter
- p.Ala1812= Single submitter
- p.Ala194= Single submitter
- p.Ala372= Single submitter
- p.Ala418= Single submitter
- p.Ala536= Single submitter
- p.Ala660= Single submitter
- p.Ala977= Single submitter
- p.Arg1015= Single submitter
- p.Arg1032= Single submitter
- p.Arg1169= Single submitter
- p.Arg1412= Single submitter
- p.Arg1523= Single submitter
- p.Arg1651= Single submitter
- p.Arg1733= Single submitter
- p.Arg1747= Single submitter
- p.Arg218= Single submitter
- p.Arg261= Single submitter
- p.Arg262= Single submitter
- p.Arg303= Single submitter
- p.Arg402= Single submitter
- p.Arg461= Single submitter
- p.Arg573= Single submitter
- p.Arg809= Single submitter
- p.Arg882His Single submitter ⚠
- p.Asn1076= Single submitter
- p.Asn1115= Single submitter
- p.Asn1338= Single submitter
- p.Asn1364= Single submitter
- p.Asn1797= Single submitter
- p.Asn192= Single submitter
- p.Asn384= Single submitter
- p.Asn412= Single submitter
- p.Asn489= Single submitter
- p.Asn489Ser Single submitter
- p.Asn512= Single submitter
- p.Asn672= Single submitter
- p.Asn70= Single submitter
- p.Asn727= Single submitter
- p.Asn765= Single submitter
- p.Asn774= Single submitter
- p.Asn855= Single submitter
- p.Asn856= Single submitter
- p.Asp1148= Single submitter
- p.Asp1300= Single submitter
- p.Asp1589= Single submitter
- p.Asp1724= Single submitter
- p.Asp180= Single submitter
- p.Asp1823= Single submitter
- p.Asp1828= Single submitter
- p.Asp310= Single submitter
- p.Asp37= Single submitter
- p.Asp424= Single submitter
- p.Asp530= Single submitter
- p.Cys1485= Single submitter
- p.Cys1729= Single submitter
- p.Gln1124= Single submitter
- p.Gln1127= Single submitter
- p.Gln1170= Single submitter
- p.Gln1223= Single submitter
- p.Gln1315= Single submitter
- p.Gln136= Single submitter
- p.Gln1380= Single submitter
- p.Gln1497= Single submitter
- p.Gln1568= Single submitter
- p.Gln161= Single submitter
- p.Gln1619= Single submitter
- p.Gln183= Single submitter
- p.Gln232= Single submitter
- p.Gln247= Single submitter
- p.Gln265= Single submitter
- p.Gln292= Single submitter
- p.Gln386= Single submitter
- p.Gln516= Single submitter
- p.Gln736= Single submitter
- p.Gln766= Single submitter
- p.Gln781= Single submitter
- p.Gln797= Single submitter
- p.Gln822= Single submitter
- p.Gln826= Single submitter
- p.Gln843= Single submitter
- p.Gln919= Single submitter
- p.Gln920= Single submitter
- p.Gln96= Single submitter
- p.Gln992= Single submitter
Uncertain significance 516
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1536Thr Multiple submitters ⚠
- p.Ala155Val Multiple submitters ⚠
- p.Ala158Thr Multiple submitters ⚠
- p.Ala1770Val Multiple submitters ⚠
- p.Ala194Thr Multiple submitters ⚠
- p.Ala72Thr Multiple submitters ⚠
- p.Ala845Gly Multiple submitters ⚠
- p.Arg1169His Multiple submitters ⚠
- p.Arg1367Lys Multiple submitters ⚠
- p.Arg1414Cys Multiple submitters ⚠
- p.Arg1424Cys Multiple submitters ⚠
- p.Arg1488Cys Multiple submitters ⚠
- p.Arg1523Lys Multiple submitters ⚠
- p.Arg1667Gln Multiple submitters ⚠
- p.Arg1733Gly Multiple submitters ⚠
- p.Arg1747Gln Multiple submitters ⚠
- p.Arg290Ser Multiple submitters ⚠
- p.Arg309Gln Multiple submitters ⚠
- p.Arg316Gln Multiple submitters ⚠
- p.Arg371His Multiple submitters ⚠
- p.Arg480Gln Multiple submitters ⚠
- p.Arg480Trp Multiple submitters ⚠
- p.Arg753His Multiple submitters ⚠
- p.Arg994His Multiple submitters ⚠
- p.Asn1597Ser Multiple submitters ⚠
- p.Asn35His Multiple submitters ⚠
- p.Asn512Thr Multiple submitters ⚠
- p.Asn923Ser Multiple submitters ⚠
- p.Asp1763His Multiple submitters ⚠
- p.Asp401His Multiple submitters ⚠
- p.Asp424Gly Multiple submitters ⚠
- p.Asp762His Multiple submitters ⚠
- p.Cys277Ser Multiple submitters ⚠
- p.Gln1433His Multiple submitters ⚠
- p.Gln1869Glu Multiple submitters ⚠
- p.Gln85Glu Multiple submitters ⚠
- p.Gln920Lys Multiple submitters ⚠
- p.Gln947Lys Multiple submitters ⚠
- p.Glu1033Asp Multiple submitters ⚠
- p.Glu1665Asp Multiple submitters ⚠
- p.Glu383Asp Multiple submitters ⚠
- p.Glu444Lys Multiple submitters ⚠
- p.Glu594Gln Multiple submitters ⚠
- p.Glu616Asp Multiple submitters ⚠
- p.Glu854Asp Multiple submitters ⚠
- p.Glu984Gln Multiple submitters ⚠
- p.Gly1737Val Multiple submitters ⚠
- p.Gly740Ser Multiple submitters ⚠
- p.His1195Gln Multiple submitters ⚠
- p.His1605Asn Multiple submitters ⚠
- p.His452Arg Multiple submitters ⚠
- p.His636Arg Multiple submitters ⚠
- p.Ile1404Met Multiple submitters ⚠
- p.Ile1518Thr Multiple submitters ⚠
- p.Ile339Thr Multiple submitters ⚠
- p.Ile514Ser Multiple submitters ⚠
- p.Ile591Val Multiple submitters ⚠
- p.Leu1714Ser Multiple submitters ⚠
- p.Leu267= Multiple submitters
- p.Leu786Ile Multiple submitters ⚠
- p.Lys1008Arg Multiple submitters ⚠
- p.Lys257Arg Multiple submitters ⚠
- p.Lys505Thr Multiple submitters ⚠
- p.Lys535Ile Multiple submitters ⚠
- p.Lys554Asn Multiple submitters ⚠
- p.Lys610Asn Multiple submitters ⚠
- p.Met1016Thr Multiple submitters ⚠
- p.Met1490Arg Multiple submitters ⚠
- p.Met181Val Multiple submitters ⚠
- p.Met284Thr Multiple submitters ⚠
- p.Met791Thr Multiple submitters ⚠
- p.Phe341Tyr Multiple submitters ⚠
- p.Pro1470Ala Multiple submitters ⚠
- p.Pro1567Ser Multiple submitters ⚠
- p.Pro1740Ser Multiple submitters ⚠
- p.Pro188Thr Multiple submitters ⚠
- p.Ser1092Leu Multiple submitters ⚠
- p.Ser1545Pro Multiple submitters ⚠
- p.Ser1550Cys Multiple submitters ⚠
- p.Ser1769Cys Multiple submitters ⚠
- p.Ser1871Phe Multiple submitters ⚠
- p.Ser300Thr Multiple submitters ⚠
- p.Ser440Gly Multiple submitters ⚠
- p.Ser577Asn Multiple submitters ⚠
- p.Ser600Gly Multiple submitters ⚠
- p.Thr1037Met Multiple submitters ⚠
- p.Thr1098Asn Multiple submitters ⚠
- p.Thr1113Ala Multiple submitters ⚠
- p.Thr1304Asn Multiple submitters ⚠
- p.Thr1520Ala Multiple submitters ⚠
- p.Thr152Ile Multiple submitters ⚠
- p.Thr15Ser Multiple submitters ⚠
- p.Thr1774Ile Multiple submitters ⚠
- p.Thr1819Ile Multiple submitters ⚠
- p.Thr482Ala Multiple submitters ⚠
- p.Thr868Ile Multiple submitters PEHO-like syndrome ⚠
- p.Thr903Met Multiple submitters ⚠
- p.Tyr1744Cys Multiple submitters ⚠
- p.Tyr954Cys Multiple submitters ⚠
- p.Val1716Ala Multiple submitters ⚠
- p.Val894Met Multiple submitters ⚠
- p.Val912Leu Multiple submitters ⚠
- c.1041+5G>T Single submitter
- c.165-3C>T Single submitter
- c.1656+5A>G Single submitter
- c.2727+5A>G Single submitter
- c.3324+9A>G Single submitter
- c.343+5G>T Single submitter
- c.3603-9T>G Single submitter
- c.402+3A>T Single submitter
- c.402+4A>G Single submitter
- c.4080-3T>C Single submitter
- c.487-11C>G Single submitter
- c.627+9_627+10delinsGT Single submitter
- c.63+4A>T Single submitter
- p.Ala1006Val Single submitter ⚠
- p.Ala1060Thr Single submitter ⚠
- p.Ala1529Thr Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala1602Gly Single submitter ⚠
- p.Ala1634Thr Single submitter ⚠
- p.Ala1800Thr Single submitter ⚠
- p.Ala1812Ser Single submitter ⚠
- p.Ala1812Val Single submitter ⚠
- p.Ala227Gly Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala258Gly Single submitter ⚠
- p.Ala29Asp Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala302Pro Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala30Ser Single submitter ⚠
- p.Ala314Val Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala977Ser Single submitter ⚠
- p.Ala977Val Single submitter ⚠
- p.Arg1010Thr Single submitter ⚠
- p.Arg1032Gln Single submitter ⚠
- p.Arg1088Lys Single submitter ⚠
- p.Arg1088Thr Single submitter PEHO-like syndrome ⚠
- p.Arg1201Cys Single submitter ⚠
- p.Arg1249Ser Single submitter ⚠
- p.Arg1325Gln Single submitter ⚠
- p.Arg1368Cys Single submitter ⚠
- p.Arg1368His Single submitter ⚠
- p.Arg1412Gly Single submitter ⚠
- p.Arg1424His Single submitter ⚠
- p.Arg144Ser Single submitter PEHO-like syndrome ⚠
- p.Arg1488His Single submitter ⚠
- p.Arg1524Lys Single submitter ⚠
- p.Arg1549Thr Single submitter ⚠
- p.Arg1579Gly Single submitter ⚠
- p.Arg1617Gly Single submitter ⚠
- p.Arg1651Lys Single submitter ⚠
- p.Arg1651Thr Single submitter ⚠
- p.Arg1755Lys Single submitter ⚠
- p.Arg1759Gln Single submitter ⚠
- p.Arg1791Gly Single submitter ⚠
- p.Arg1804Cys Single submitter ⚠
- p.Arg1804His Single submitter ⚠
- p.Arg1817Gln Single submitter ⚠
- p.Arg1817Ter Single submitter
- p.Arg218Gln Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg242Leu Single submitter ⚠
- p.Arg290Met Single submitter ⚠
- p.Arg309Leu Single submitter ⚠
- p.Arg321Lys Single submitter ⚠
- p.Arg373His Single submitter ⚠
- p.Arg502Ser Single submitter ⚠
- p.Arg546Lys Single submitter ⚠
- p.Arg611Thr Single submitter ⚠
- p.Arg626Gln Single submitter ⚠
- p.Arg708Lys Single submitter ⚠
- p.Arg753Cys Single submitter ⚠
- p.Arg767Thr Single submitter ⚠
- p.Arg941Gln Single submitter ⚠
- p.Arg994Cys Single submitter ⚠
- p.Asn1054Ser Single submitter ⚠
- p.Asn1077Ser Single submitter ⚠
- p.Asn1104Ile Single submitter ⚠
- p.Asn1203Asp Single submitter ⚠
- p.Asn1230Asp Single submitter ⚠
- p.Asn1448Tyr Single submitter ⚠
- p.Asn1474Lys Single submitter ⚠
- p.Asn1538His Single submitter ⚠
- p.Asn1538Ser Single submitter ⚠
- p.Asn1543Ser Single submitter ⚠
- p.Asn1613Asp Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn35Ser Single submitter ⚠
- p.Asn384Tyr Single submitter ⚠
- p.Asn3Lys Single submitter ⚠
- p.Asn489Ile Single submitter ⚠
- p.Asn523Lys Single submitter ⚠
- p.Asn650Thr Single submitter ⚠
- p.Asn65Asp Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asn672His Single submitter ⚠
- p.Asn684Ser Single submitter ⚠
- p.Asn69Ser Single submitter ⚠
- p.Asn799Ile Single submitter ⚠
- p.Asn838Ser Single submitter ⚠
- p.Asn866Lys Single submitter ⚠
- p.Asp1027Glu Single submitter ⚠
- p.Asp1441Gly Single submitter ⚠
- p.Asp1452Gly Single submitter ⚠
- p.Asp1478Glu Single submitter ⚠
- p.Asp1558Ala Single submitter ⚠
- p.Asp1572Ala Single submitter ⚠
- p.Asp1724His Single submitter ⚠
- p.Asp180Val Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp205His Single submitter ⚠
- p.Asp310Gly Single submitter ⚠
- p.Asp323Gly Single submitter ⚠
- p.Asp352Gly Single submitter ⚠
- p.Asp484Gly Single submitter ⚠
- p.Asp830Glu Single submitter ⚠
- p.Asp900Gly Single submitter ⚠
- p.Cys1485Phe Single submitter ⚠
- p.Cys235Ser Single submitter ⚠
- p.Cys655Arg Single submitter ⚠
- p.Cys715Ser Single submitter ⚠
- p.Gln1009Arg Single submitter ⚠
- p.Gln1018Arg Single submitter ⚠
- p.Gln1117Pro Single submitter ⚠
- p.Gln1127Lys Single submitter ⚠
- p.Gln1223Glu Single submitter ⚠
- p.Gln1380Arg Single submitter ⚠
- p.Gln1440Arg Single submitter ⚠
- p.Gln1504Arg Single submitter ⚠
- p.Gln1649Arg Single submitter ⚠
- p.Gln1697Arg Single submitter ⚠
- p.Gln1703Glu Single submitter ⚠
- p.Gln174= Single submitter
- p.Gln232Arg Single submitter ⚠
- p.Gln273Pro Single submitter ⚠
- p.Gln386Lys Single submitter ⚠
- p.Gln419Arg Single submitter ⚠
- p.Gln447Arg Single submitter PEHO-like syndrome ⚠
- p.Gln470His Single submitter ⚠
- p.Gln519Arg Single submitter ⚠
- p.Gln572Arg Single submitter ⚠
- p.Gln766Arg Single submitter ⚠
- p.Gln780His Single submitter ⚠
- p.Gln843Arg Single submitter ⚠
- p.Gln85Arg Single submitter ⚠
- p.Gln95Glu Single submitter ⚠
- p.Glu1014Ala Single submitter ⚠
- p.Glu1031Lys Single submitter ⚠
- p.Glu1050Ala Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu1164Gln Single submitter ⚠
- p.Glu1194Lys Single submitter PEHO-like syndrome ⚠
- p.Glu1222Lys Single submitter ⚠
- p.Glu1311Lys Single submitter ⚠
- p.Glu1343Gly Single submitter ⚠
- p.Glu139Ala Single submitter ⚠
- p.Glu1429Ala Single submitter ⚠
- p.Glu143Ala Single submitter ⚠
- p.Glu1679Lys Single submitter ⚠
- p.Glu1689Lys Single submitter ⚠
- p.Glu1813Lys Single submitter ⚠
- p.Glu1857Gly Single submitter ⚠
- p.Glu203Ala Single submitter ⚠
- p.Glu244Gly Single submitter ⚠
- p.Glu317Asp Single submitter ⚠
- p.Glu334Gln Single submitter ⚠
- p.Glu347= Single submitter
- p.Glu351Gln Single submitter ⚠
- p.Glu407Asp Single submitter ⚠
- p.Glu517Val Single submitter ⚠
- p.Glu534Lys Single submitter ⚠
- p.Glu598Gly Single submitter ⚠
- p.Glu640Gly Single submitter ⚠
- p.Glu656Gly Single submitter ⚠
- p.Glu659Ala Single submitter ⚠
- p.Glu701Lys Single submitter ⚠
- p.Glu711Ala Single submitter ⚠
- p.Glu735Ala Single submitter ⚠
- p.Glu752Lys Single submitter ⚠
- p.Glu790Gln Single submitter ⚠
- p.Glu926Lys Single submitter ⚠
- p.Glu92Asp Single submitter ⚠
- p.Glu973Gly Single submitter ⚠
- p.Gly109Ser Single submitter ⚠
- p.Gly1182Glu Single submitter ⚠
- p.Gly1430Ala Single submitter ⚠
- p.Gly1453Ala Single submitter ⚠
- p.Gly1457Glu Single submitter ⚠
- p.Gly1507Asp Single submitter ⚠
- p.Gly1610Asp Single submitter ⚠
- p.Gly1722Glu Single submitter ⚠
- p.Gly1776Ala Single submitter ⚠
- p.Gly1779Val Single submitter ⚠
- p.Gly488Asp Single submitter ⚠
- p.Gly624Ala Single submitter ⚠
- p.Gly624Arg Single submitter ⚠
- p.Gly760Val Single submitter ⚠