ANK1 — 1583 ClinVar variants

All ClinVar germline ANK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 569 flagged for review →

169 Pathogenic · 43 Pathogenic/Likely pathogenic · 241 Likely pathogenic · 108 Conflicting · 100 Benign · 29 Benign/Likely benign · 209 Likely benign · 684 Uncertain significance

Full ANK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 569

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

Predictors vs ClinVar 4

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

ANK1 p.Gln879His Likely pathogenic Single submitter
hereditary spherocytosis type 1
ANK1 p.Lys1368Asn Likely pathogenic Single submitter
hereditary spherocytosis type 1
ANK1 p.Ser1027Arg Pathogenic Single submitter
ANK1 p.Thr1057Asn Likely pathogenic Single submitter
hereditary spherocytosis type 1

Predictors agree, ClinVar conflicts 20

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ANK1 c.5544+46G>A Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala944Thr Conflicting Single submitter
Spherocytosis
ANK1 p.Arg1536Cys Conflicting Single submitter
Inborn genetic diseases
ANK1 p.Arg1682Gln Conflicting Single submitter
Spherocytosis
ANK1 p.Arg322Leu Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg385Cys Conflicting Single submitter
immunodeficiency 62
ANK1 p.Arg446Thr Conflicting Single submitter
Inborn genetic diseases
ANK1 p.Arg699Gln Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg832Gln Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Asp333Asn Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Gly1707Ser Conflicting Single submitter
Inborn genetic diseases
ANK1 p.His723Asn Conflicting Single submitter
Spherocytosis
ANK1 p.Lys1790Asn Conflicting Single submitter
Inborn genetic diseases
ANK1 p.Pro1060Leu Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Pro1379Leu Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Ser1129Ile Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Ser1387Asn Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Ser620Asn Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Val1100Ile Conflicting Single submitter
Inborn genetic diseases
ANK1 p.Val384Ile Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 4

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

ANK1 c.4259-1G>T Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Ile1835fs Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Met1Thr Conflicting Single submitter
Inborn genetic diseases
ANK1 p.Met1Val Conflicting Single submitter
hereditary spherocytosis type 1

Predictors lean, ClinVar uncertain 349

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 349

ANK1 p.Ala1553Val Uncertain significance Multiple submitters
ANK1 p.Ala1590Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ala1659Val Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ala1789Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ala312Glu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1001His Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Arg1068Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1143Ser Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1148Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg1218Gln Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1311Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1423Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1491His Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg1491Pro Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1498Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg1502His Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1699Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1778Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg352Gly Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg352Ser Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Arg479Cys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg512Cys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg948Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg952His Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Asn1158Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Asn1791Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Asn422Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Asp1074Asn Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Asp1157Asn Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Asp316Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Cys531Phe Uncertain significance Multiple submitters
ANK1 p.Gln1809His Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Glu1005Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu1373Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu1608Gln Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Glu1751Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Glu1847Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu217Lys Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Glu272Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Gly1077Arg Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Gly1487Ser Uncertain significance Multiple submitters
ANK1-related disorder
ANK1 p.Gly1820Ser Uncertain significance Multiple submitters
ANK1 p.Gly206Glu Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Gly514Cys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Gly745Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Gly89Arg Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.His1314Pro Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.His343Pro Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ile1131Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ile1709Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ile480Val Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Leu115Pro Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Leu1194Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Leu1483Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Leu210Val Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Leu390Pro Uncertain significance Multiple submitters
ANK1 p.Leu663Val Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Lys355Arg Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Met1066Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Met1560Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Met311Val Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Met414Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Pro1060Thr Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Pro1237Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro1326Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro1744Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro440Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Pro994Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ser1736Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ser429Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ser765Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ser799Arg Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Thr1555Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr1684Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Thr188Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr373Ser Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Thr393Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr472Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Tyr1386His Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Tyr1514Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Val104Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val1132Asp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val356Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val410Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Val847Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val905Met Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ala102Asp Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala118Glu Uncertain significance Single submitter
ANK1 p.Ala119Gly Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala1235Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1324Val Uncertain significance Single submitter
Spherocytosis
ANK1 p.Ala1346Glu Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1372Thr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala1372Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala151Asp Uncertain significance Single submitter
ANK1-related disorder
ANK1 p.Ala1549Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1595Thr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala1681Ser Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala1768Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1773Pro Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1773Thr Uncertain significance Single submitter
ANK1 p.Ala1840Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala213Glu Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala312Val Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala362Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala399Val Uncertain significance Single submitter
ANK1 p.Ala477Val Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala530Thr Uncertain significance Single submitter
ANK1 p.Ala565Ser Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala648Thr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala708Asp Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala708Pro Uncertain significance Single submitter
ANK1 p.Ala81Asp Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala829Ser Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala858Pro Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala85Ser Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala85Thr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala880Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala906Ser Uncertain significance Single submitter
ANK1 p.Ala906Val Uncertain significance Single submitter
hereditary spherocytosis
ANK1 p.Ala945Val Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala972Asp Uncertain significance Single submitter
ANK1 p.Arg1004Gly Uncertain significance Single submitter
ANK1 p.Arg1023His Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1068Pro Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1139Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1143Cys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1210Lys Uncertain significance Single submitter
ANK1 p.Arg1319Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1322Cys Uncertain significance Single submitter
hereditary spherocytosis
ANK1 p.Arg1334Gln Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1344Cys Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1344His Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1476Leu Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1536His Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1536Pro Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1678Met Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1699Thr Uncertain significance Single submitter
ANK1 p.Arg1777Pro Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg248Cys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg248His Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg256Trp Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg479His Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg512Gly Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg512His Uncertain significance Single submitter
Spherocytosis
ANK1 p.Arg941Gln Uncertain significance Single submitter
ANK1 p.Arg941Trp Uncertain significance Single submitter
ANK1 p.Arg948His Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg952Cys Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg952Leu Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 192

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 192

ANK1 p.Ala1346Val Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ala1462Val Benign/Likely benign Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ala329Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ala494Thr Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ala543Val Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ala630Thr Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1068Gln Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1255His Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Arg1319Trp Uncertain significance Multiple submitters
Spherocytosis
ANK1 p.Arg1457His Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1498Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg1829Cys Uncertain significance Multiple submitters
ANK1 p.Arg261Gln Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg322Gln Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg322Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg426Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg619His Benign/Likely benign Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Arg699Trp Uncertain significance Multiple submitters
ANK1-related disorder
ANK1 p.Arg95Trp Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Asn183Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Asn220Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Asp11Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu1079Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Glu1097Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu1694Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Glu1767Lys Uncertain significance Multiple submitters
hereditary spherocytosis
ANK1 p.Glu762Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Glu840Lys Uncertain significance Multiple submitters
ANK1 p.Glu967Lys Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Gly1163Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Gly933Ser Uncertain significance Multiple submitters
ANK1-related disorder
ANK1 p.Ile1076Val Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ile1474Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Lys666Asn Uncertain significance Multiple submitters
ANK1 p.Pro1114Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro1336Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro1534Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Pro496Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro562Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Pro671Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ser1214Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ser396Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ser656Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Ser759Tyr Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Thr1094Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr1726Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr1761Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Thr450Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Trp1541Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Val1016Met Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val1243Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val1277Leu Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val1480Met Uncertain significance Multiple submitters
Inborn genetic diseases
ANK1 p.Val1546Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val285Met Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Val577Ile Uncertain significance Multiple submitters
hereditary spherocytosis type 1
ANK1 p.Ala1107Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala1201Thr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala1462Thr Uncertain significance Single submitter
ANK1 p.Ala300Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala399Thr Uncertain significance Single submitter
ANK1 p.Ala428Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala510Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala521Asp Uncertain significance Single submitter
ANK1 p.Ala521Pro Uncertain significance Single submitter
ANK1 p.Ala560Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala609Thr Uncertain significance Single submitter
ANK1 p.Ala610Ser Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ala610Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala758Ser Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ala772Thr Uncertain significance Single submitter
ANK1 p.Ala972Thr Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1143His Uncertain significance Single submitter
ANK1 p.Arg1218Trp Conflicting Single submitter
Spherocytosis
ANK1 p.Arg1252Gly Uncertain significance Single submitter
ANK1 p.Arg1255Cys Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1257Cys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1257His Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1281Gln Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1322Gly Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1476Cys Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg1491Cys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1611Trp Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg1829His Uncertain significance Single submitter
ANK1 p.Arg33Gln Uncertain significance Single submitter
ANK1 p.Arg385His Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg426Gln Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg550Trp Uncertain significance Single submitter
ANK1 p.Arg558Gln Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg558Trp Uncertain significance Single submitter
ANK1 p.Arg591Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg591Gly Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Arg922Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Arg935Gln Uncertain significance Single submitter
ANK1 p.Arg95Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Asn434Ser Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Asn495His Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Asn495Ser Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Asn613Lys Uncertain significance Single submitter
ANK1 p.Asn660Ile Uncertain significance Single submitter
ANK1 p.Asn660Ser Uncertain significance Single submitter
ANK1 p.Asn756Ser Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Asp1594Tyr Uncertain significance Single submitter
ANK1 p.Asp1629Tyr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Asp1698Tyr Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Asp319Asn Uncertain significance Single submitter
ANK1 p.Asp398Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Asp784Asn Uncertain significance Single submitter
ANK1 p.Asp811Gly Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Asp851Tyr Uncertain significance Single submitter
ANK1 p.Gln109His Uncertain significance Single submitter
ANK1 p.Glu1012Lys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Glu1038Lys Uncertain significance Single submitter
ANK1 p.Glu132Gly Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Glu1458Lys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Glu1642Lys Uncertain significance Single submitter
ANK1 p.Glu1723Lys Uncertain significance Single submitter
ANK1 p.Glu451Lys Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Glu868Lys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Glu883Lys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Gly1487Cys Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Gly1513Asp Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Gly295Arg Uncertain significance Single submitter
ANK1 p.Gly361Glu Uncertain significance Single submitter
ANK1 p.Gly48Ser Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Gly661Asp Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Gly679Ala Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.His515Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.His690Arg Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ile1822Asn Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ile212Val Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Ile331Leu Uncertain significance Single submitter
ANK1 p.Ile419Met Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ile509Phe Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Ile993Met Uncertain significance Single submitter
ANK1 p.Leu1006Val Uncertain significance Single submitter
ANK1 p.Leu1069Phe Uncertain significance Single submitter
ANK1 p.Leu1288Met Uncertain significance Single submitter
ANK1 p.Leu1483Arg Conflicting Single submitter
hereditary spherocytosis type 1
ANK1 p.Leu219Phe Uncertain significance Single submitter
ANK1 p.Leu389Val Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Leu653Val Uncertain significance Single submitter
ANK1 p.Lys169Asn Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Lys381Asn Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Lys454Thr Uncertain significance Single submitter
ANK1 p.Lys534Asn Uncertain significance Single submitter
hereditary spherocytosis type 1
ANK1 p.Lys730Asn Uncertain significance Single submitter
hereditary spherocytosis
ANK1 p.Lys787Gln Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Lys787Glu Uncertain significance Single submitter
Inborn genetic diseases
ANK1 p.Met1239Ile Uncertain significance Single submitter
hereditary spherocytosis type 1

All ANK1 variants

Pathogenic 169

c.1305+1G>A Multiple submitters hereditary spherocytosis type 1
c.2390_2393del Multiple submitters hereditary spherocytosis type 1
c.3629+1G>C Multiple submitters hereditary spherocytosis type 1
c.5097-33G>A Multiple submitters hereditary spherocytosis type 1
p.Arg1053Ter Multiple submitters hereditary spherocytosis type 1
p.Arg1252Ter Multiple submitters Inborn genetic diseases
p.Arg1385Ter Multiple submitters hereditary spherocytosis type 1
p.Arg1436Ter Multiple submitters hereditary spherocytosis type 1
p.Arg1488Ter Multiple submitters hereditary spherocytosis type 1
p.Arg1682Ter Multiple submitters ANK1-related disorder
p.Arg281Ter Multiple submitters hereditary spherocytosis type 1
p.Arg286Ter Multiple submitters hereditary spherocytosis type 1
p.Arg935Ter Multiple submitters hereditary spherocytosis type 1
p.Gln120Ter Multiple submitters hereditary spherocytosis type 1
p.Gln1309Ter Multiple submitters hereditary spherocytosis type 1
p.Gln1353Ter Multiple submitters hereditary spherocytosis type 1
p.Gln1446Ter Multiple submitters hereditary spherocytosis type 1
p.Gln1472Ter Multiple submitters hereditary spherocytosis type 1
p.Glu272Ter Multiple submitters hereditary spherocytosis type 1
p.Glu553Ter Multiple submitters hereditary spherocytosis type 1
p.Glu631Ter Multiple submitters hereditary spherocytosis type 1
p.Leu131fs Multiple submitters hereditary spherocytosis type 1
p.Leu507fs Multiple submitters hereditary spherocytosis type 1
p.Leu639fs Multiple submitters hereditary spherocytosis type 1
p.Lys128fs Multiple submitters hereditary spherocytosis type 1
p.Trp1155Ter Multiple submitters hereditary spherocytosis type 1
p.Trp1418Ter Multiple submitters hereditary spherocytosis type 1
c.1602+1G>C Single submitter hereditary spherocytosis type 1
c.1702-2A>C Single submitter hereditary spherocytosis type 1
c.1801-1G>T Single submitter hereditary spherocytosis type 1
c.2098-1G>T Single submitter hereditary spherocytosis type 1
c.2389-1G>A Single submitter hereditary spherocytosis type 1
c.2462-2A>G Single submitter hereditary spherocytosis type 1
c.2462-2del Single submitter
c.2559-1G>A Single submitter
c.2559-2A>C Single submitter hereditary spherocytosis type 1
c.2559-2A>T Single submitter hereditary spherocytosis type 1
c.2736-1G>A Single submitter
c.3115+2T>A Single submitter
c.3629+2T>C Single submitter hereditary spherocytosis type 1
c.3858+2T>A Single submitter
p.Ala1346fs Single submitter
p.Ala296fs Single submitter hereditary spherocytosis type 1
p.Ala312fs Single submitter
p.Ala478fs Single submitter hereditary spherocytosis type 1
p.Ala741fs Single submitter
p.Ala983fs Single submitter
p.Arg1004fs Single submitter
p.Arg1103fs Single submitter
p.Arg228Ter Single submitter
p.Arg249fs Single submitter
p.Arg367fs Single submitter
p.Arg591fs Single submitter hereditary spherocytosis type 1
p.Asn1013fs Single submitter
p.Asn105fs Single submitter
p.Asn1463fs Single submitter hereditary spherocytosis type 1
p.Asn220fs Single submitter
p.Asn492fs Single submitter
p.Asp1284fs Single submitter hereditary spherocytosis type 1
p.Asp1582fs Single submitter
p.Cys1052fs Single submitter
p.Cys951Ter Single submitter hereditary spherocytosis type 1
p.Gln1031fs Single submitter hereditary spherocytosis type 1
p.Gln107Ter Single submitter hereditary spherocytosis type 1
p.Gln1092fs Single submitter hereditary spherocytosis type 1
p.Gln109Ter Single submitter hereditary spherocytosis type 1
p.Gln1316Ter Single submitter
p.Gln1402Ter Single submitter hereditary spherocytosis type 1
p.Gln1680fs Single submitter
p.Gln1691Ter Single submitter hereditary spherocytosis type 1
p.Gln1718Ter Single submitter hereditary spherocytosis type 1
p.Gln1814fs Single submitter
p.Gln1844Ter Single submitter hereditary spherocytosis type 1
p.Gln314Ter Single submitter
p.Gln425Ter Single submitter hereditary spherocytosis type 1
p.Gln43Ter Single submitter hereditary spherocytosis type 1
p.Gln724Ter Single submitter
p.Gln744Ter Single submitter hereditary spherocytosis type 1
p.Gln877Ter Single submitter
p.Glu1039Ter Single submitter
p.Glu1412fs Single submitter hereditary spherocytosis type 1
p.Glu1614Ter Single submitter
p.Glu1723Ter Single submitter
p.Glu1767fs Single submitter hereditary spherocytosis type 1
p.Glu1808fs Single submitter
p.Glu1813fs Single submitter hereditary spherocytosis type 1
p.Glu272fs Single submitter
p.Glu517Ter Single submitter
p.Glu68Ter Single submitter
p.Glu92Ter Single submitter hereditary spherocytosis type 1
p.Glu9Ter Single submitter hereditary spherocytosis type 1
p.Gly1025Ter Single submitter hereditary spherocytosis type 1
p.Gly1081_Ser1082insTer Single submitter hereditary spherocytosis type 1
p.Gly1081fs Single submitter
p.Gly1652fs Single submitter
p.Gly23fs Single submitter
p.Gly56fs Single submitter
p.Gly592fs Single submitter ANK1-related disorder
p.Gly6fs Single submitter
p.Gly701fs Single submitter hereditary spherocytosis type 1
p.Gly734fs Single submitter
p.His1314fs Single submitter
p.His1557fs Single submitter
p.His162fs Single submitter hereditary spherocytosis type 1
p.Ile480fs Single submitter hereditary spherocytosis type 1
p.Ile773fs Single submitter
p.Leu1147fs Single submitter
p.Leu124Ter Single submitter
p.Leu130fs Single submitter
p.Leu1382fs Single submitter hereditary spherocytosis type 1
p.Leu1421Ter Single submitter
p.Leu210fs Single submitter
p.Leu323fs Single submitter Spherocytosis
p.Leu325_Gln326delinsPheTer Single submitter hereditary spherocytosis type 1
p.Leu375fs Single submitter
p.Leu375Ter Single submitter hereditary spherocytosis type 1
p.Leu391fs Single submitter
p.Leu441fs Single submitter
p.Leu573fs Single submitter hereditary spherocytosis type 1
p.Leu953fs Single submitter
p.Lys1328fs Single submitter
p.Lys392fs Single submitter
p.Lys460Ter Single submitter
p.Lys67Ter Single submitter
p.Lys718Ter Single submitter
p.Met1036fs Single submitter
p.Met1347fs Single submitter hereditary spherocytosis type 1
p.Phe846fs Single submitter Spherocytosis
p.Pro1150fs Single submitter hereditary spherocytosis type 1
p.Pro1217fs Single submitter hereditary spherocytosis type 1
p.Pro760fs Single submitter
p.Pro964fs Single submitter hereditary spherocytosis type 1
p.Ser1027Arg Single submitter ⚠
p.Ser1169fs Single submitter hereditary spherocytosis type 1
p.Ser1411Ter Single submitter hereditary spherocytosis type 1
p.Ser1447fs Single submitter hereditary spherocytosis type 1
p.Ser1507Ter Single submitter ANK1-related disorder
p.Ser1583fs Single submitter
p.Ser1607fs Single submitter hereditary spherocytosis type 1
p.Ser1646Ter Single submitter
p.Ser1731Ter Single submitter hereditary spherocytosis type 1
p.Ser203fs Single submitter
p.Thr1219fs Single submitter
p.Thr14fs Single submitter
p.Thr1739fs Single submitter
p.Thr267fs Single submitter
p.Thr604fs Single submitter
p.Trp1454Ter Single submitter hereditary spherocytosis type 1
p.Trp1600fs Single submitter
p.Trp1600Ter Single submitter
p.Trp1762Ter Single submitter
p.Tyr1386Ter Single submitter hereditary spherocytosis type 1
p.Tyr1514fs Single submitter hereditary spherocytosis type 1
p.Tyr455Ter Single submitter hereditary spherocytosis type 1
p.Tyr624Ter Single submitter
p.Val1008fs Single submitter
p.Val1236fs Single submitter
p.Val1689fs Single submitter
p.Val172fs Single submitter
p.Val1786fs Single submitter
p.Val617fs Single submitter hereditary spherocytosis type 1
p.Val798fs Single submitter hereditary spherocytosis type 1
c.-73_-72del No assertion criteria SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
p.Ala499fs No assertion criteria ANK1-related disorder
p.Arg1160fs No assertion criteria ANK1-related disorder
p.Cys1366Ter No assertion criteria hereditary spherocytosis type 1
p.Glu1669Ter No assertion criteria hereditary spherocytosis type 1
p.Leu174fs No assertion criteria SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
p.Tyr166Ter No assertion criteria ANK1-related disorder

Pathogenic/Likely pathogenic 43

c.1405-9G>A Multiple submitters hereditary spherocytosis type 1
c.1702-2A>G Multiple submitters hereditary spherocytosis type 1
c.1801-17G>A Multiple submitters hereditary spherocytosis type 1
c.2296-2A>G Multiple submitters hereditary spherocytosis type 1
c.2961-2A>G Multiple submitters hereditary spherocytosis type 1
c.328-2A>G Multiple submitters
c.3533-2A>G Multiple submitters hereditary spherocytosis type 1
c.3984+1G>T Multiple submitters hereditary spherocytosis type 1
c.3984+2T>C Multiple submitters hereditary spherocytosis type 1
p.Arg1137fs Multiple submitters hereditary spherocytosis type 1
p.Arg1334Ter Multiple submitters hereditary spherocytosis type 1
p.Arg1377fs Multiple submitters
p.Arg1833Ter Multiple submitters hereditary spherocytosis type 1
p.Arg803Ter Multiple submitters hereditary spherocytosis type 1
p.Asn497fs Multiple submitters hereditary spherocytosis type 1
p.Gln1109Ter Multiple submitters hereditary spherocytosis type 1
p.Gln137Ter Multiple submitters hereditary spherocytosis type 1
p.Gln1567Ter Multiple submitters
p.Gln1733Ter Multiple submitters
p.Gln1765Ter Multiple submitters hereditary spherocytosis type 1
p.Gln634Ter Multiple submitters hereditary spherocytosis type 1
p.Gln644Ter Multiple submitters hereditary spherocytosis type 1
p.Gln658Ter Multiple submitters hereditary spherocytosis type 1
p.Gln677Ter Multiple submitters hereditary spherocytosis type 1
p.Gln722Ter Multiple submitters hereditary spherocytosis type 1
p.Gln852Ter Multiple submitters hereditary spherocytosis type 1
p.Glu1038Ter Multiple submitters hereditary spherocytosis type 1
p.Glu1667_Asn1668insTer Multiple submitters hereditary spherocytosis type 1
p.Gly1165fs Multiple submitters hereditary spherocytosis type 1
p.Gly1459fs Multiple submitters hereditary spherocytosis type 1
p.His347fs Multiple submitters hereditary spherocytosis type 1
p.Leu1090fs Multiple submitters hereditary spherocytosis type 1
p.Ser1298fs Multiple submitters hereditary spherocytosis type 1
p.Ser1317Ter Multiple submitters hereditary spherocytosis type 1
p.Ser1533fs Multiple submitters hereditary spherocytosis type 1
p.Ser799fs Multiple submitters hereditary spherocytosis type 1
p.Trp1017Ter Multiple submitters hereditary spherocytosis type 1
p.Trp1185Ter Multiple submitters hereditary spherocytosis type 1
p.Trp1703Ter Multiple submitters hereditary spherocytosis type 1
p.Trp1721Ter Multiple submitters hereditary spherocytosis type 1
p.Trp600Ter Multiple submitters hereditary spherocytosis type 1
p.Tyr216Ter Multiple submitters hereditary spherocytosis type 1
p.Tyr3fs Multiple submitters hereditary spherocytosis type 1

Likely pathogenic 241

c.1801-2A>T Multiple submitters
c.1998+1G>T Multiple submitters
c.2389-2A>G Multiple submitters hereditary spherocytosis type 1
c.27+1G>A Multiple submitters hereditary spherocytosis type 1
c.2960+1G>A Multiple submitters hereditary spherocytosis type 1
c.3115+1G>T Multiple submitters hereditary spherocytosis type 1
c.3858+1G>A Multiple submitters hereditary spherocytosis type 1
c.4184-2A>G Multiple submitters hereditary spherocytosis type 1
c.4390+1G>A Multiple submitters hereditary spherocytosis type 1
c.712-1G>A Multiple submitters hereditary spherocytosis type 1
c.810+1G>A Multiple submitters hereditary spherocytosis type 1
p.Ala1605fs Multiple submitters hereditary spherocytosis type 1
p.Ala428fs Multiple submitters hereditary spherocytosis type 1
p.Ala461fs Multiple submitters hereditary spherocytosis type 1
p.Asn756fs Multiple submitters hereditary spherocytosis type 1
p.Gln1834Ter Multiple submitters hereditary spherocytosis type 1
p.Gln471fs Multiple submitters hereditary spherocytosis type 1
p.His1598fs Multiple submitters
p.Leu669fs Multiple submitters hereditary spherocytosis type 1
p.Ser1208fs Multiple submitters hereditary spherocytosis type 1
p.Ser632Ter Multiple submitters hereditary spherocytosis type 1
p.Tyr546Ter Multiple submitters hereditary spherocytosis type 1
c.1108-1G>T Single submitter
c.129+1G>A Single submitter
c.129+2T>G Single submitter
c.1305+1G>T Single submitter
c.1405-2A>G Single submitter
c.1603-2A>G Single submitter hereditary spherocytosis type 1
c.1800+1G>A Single submitter
c.1800+1G>T Single submitter
c.2098-1G>A Single submitter
c.2197-1G>A Single submitter hereditary spherocytosis type 1
c.2197-1G>C Single submitter
c.2287_2295+1del Single submitter hereditary spherocytosis type 1
c.2296-1G>A Single submitter hereditary spherocytosis type 1
c.2296-2A>C Single submitter hereditary spherocytosis type 1
c.2461+2T>C Single submitter hereditary spherocytosis type 1
c.25_27+16del Single submitter Spherocytosis
c.2558+2T>C Single submitter hereditary spherocytosis type 1
c.2559-1G>T Single submitter
c.2637+1G>C Single submitter hereditary spherocytosis type 1
c.2637+1G>T Single submitter
c.2736-2A>G Single submitter hereditary spherocytosis type 1
c.28-2A>G Single submitter
c.2960+1del Single submitter hereditary spherocytosis type 1
c.2961-1G>A Single submitter
c.3116-2A>G Single submitter hereditary spherocytosis type 1
c.3328-14_3336del Single submitter
c.3328-1G>A Single submitter
c.3630-1G>A Single submitter hereditary spherocytosis type 1
c.3859-2A>G Single submitter hereditary spherocytosis type 1
c.4104+2T>G Single submitter ANK1-related disorder
c.4105-1G>A Single submitter
c.4184-1G>C Single submitter
c.4259-1G>C Single submitter hereditary spherocytosis type 1
c.426+2T>A Single submitter hereditary spherocytosis type 1
c.427-20_430del Single submitter
c.428_431del Single submitter
c.4390+1G>C Single submitter
c.4390+2T>A Single submitter hereditary spherocytosis type 1
c.4391-1G>C Single submitter hereditary spherocytosis type 1
c.5096+1G>A Single submitter hereditary spherocytosis type 1
c.5096+2T>G Single submitter hereditary spherocytosis type 1
c.612+2_612+6del Single submitter
c.612+2T>A Single submitter hereditary spherocytosis type 1
c.613-1G>A Single submitter hereditary spherocytosis type 1
c.712-2A>G Single submitter
c.712-2A>T Single submitter hereditary spherocytosis type 1
c.811-1G>A Single submitter hereditary spherocytosis type 1
c.811-2A>G Single submitter hereditary spherocytosis type 1
c.910-2A>G Single submitter hereditary spherocytosis type 1
c.910-2A>T Single submitter
p.Ala1183fs Single submitter hereditary spherocytosis type 1
p.Ala1346_Met1347insTer Single submitter hereditary spherocytosis type 1
p.Ala1367fs Single submitter hereditary spherocytosis type 1
p.Ala1422fs Single submitter hereditary spherocytosis type 1
p.Ala1530fs Single submitter
p.Ala1662fs Single submitter
p.Ala399fs Single submitter hereditary spherocytosis type 1
p.Ala444fs Single submitter hereditary spherocytosis type 1
p.Ala560fs Single submitter hereditary spherocytosis type 1
p.Ala708fs Single submitter hereditary spherocytosis type 1
p.Ala829fs Single submitter hereditary spherocytosis type 1
p.Ala865fs Single submitter hereditary spherocytosis type 1
p.Arg1252fs Single submitter hereditary spherocytosis type 1
p.Arg1281fs Single submitter hereditary spherocytosis type 1
p.Arg1319fs Single submitter hereditary spherocytosis type 1
p.Arg1423fs Single submitter hereditary spherocytosis type 1
p.Arg1498fs Single submitter hereditary spherocytosis type 1
p.Arg1775fs Single submitter hereditary spherocytosis type 1
p.Arg182fs Single submitter hereditary spherocytosis type 1
p.Arg21fs Single submitter hereditary spherocytosis type 1
p.Arg228fs Single submitter
p.Arg861fs Single submitter hereditary spherocytosis type 1
p.Arg922fs Single submitter hereditary spherocytosis type 1
p.Asn1461fs Single submitter hereditary spherocytosis type 1
p.Asn1466fs Single submitter
p.Asn1492_Leu1493insTer Single submitter
p.Asn158fs Single submitter
p.Asn1791fs Single submitter
p.Asn304fs Single submitter
p.Asn459fs Single submitter hereditary spherocytosis type 1
p.Asn484fs Single submitter hereditary spherocytosis type 1
p.Asn761fs Single submitter hereditary spherocytosis type 1
p.Asp1166fs Single submitter hereditary spherocytosis type 1
p.Asp1565fs Single submitter
p.Asp1594fs Single submitter hereditary spherocytosis type 1
p.Asp1629fs Single submitter hereditary spherocytosis type 1
p.Asp559fs Single submitter hereditary spherocytosis type 1
p.Cys1216_Pro1217insTer Single submitter hereditary spherocytosis type 1
p.Cys1260Ter Single submitter hereditary spherocytosis type 1
p.Cys1357Ter Single submitter hereditary spherocytosis type 1
p.Cys1366fs Single submitter hereditary spherocytosis type 1
p.Cys379fs Single submitter hereditary spherocytosis type 1
p.Cys951fs Single submitter hereditary spherocytosis type 1
p.Gln1125Ter Single submitter hereditary spherocytosis type 1
p.Gln1184Ter Single submitter hereditary spherocytosis type 1
p.Gln1310Ter Single submitter hereditary spherocytosis type 1
p.Gln153fs Single submitter hereditary spherocytosis type 1
p.Gln154Ter Single submitter hereditary spherocytosis type 1
p.Gln1567fs Single submitter
p.Gln1664Ter Single submitter hereditary spherocytosis type 1
p.Gln1722fs Single submitter hereditary spherocytosis type 1
p.Gln1779Ter Single submitter hereditary spherocytosis type 1
p.Gln1782Ter Single submitter
p.Gln1787Ter Single submitter hereditary spherocytosis type 1
p.Gln223fs Single submitter hereditary spherocytosis type 1
p.Gln299Ter Single submitter hereditary spherocytosis type 1
p.Gln471Ter Single submitter
p.Gln529Ter Single submitter hereditary spherocytosis type 1
p.Gln879His Single submitter hereditary spherocytosis type 1 ⚠
p.Gln984fs Single submitter hereditary spherocytosis type 1
p.Glu1005fs Single submitter hereditary spherocytosis type 1
p.Glu1079Ter Single submitter
p.Glu121fs Single submitter hereditary spherocytosis type 1
p.Glu125fs Single submitter hereditary spherocytosis type 1
p.Glu1271Ter Single submitter hereditary spherocytosis type 1
p.Glu1350Ter Single submitter hereditary spherocytosis type 1
p.Glu1424fs Single submitter hereditary spherocytosis type 1
p.Glu1430fs Single submitter hereditary spherocytosis type 1
p.Glu1484fs Single submitter hereditary spherocytosis type 1
p.Glu1591Ter Single submitter hereditary spherocytosis type 1
p.Glu1619Ter Single submitter hereditary spherocytosis type 1
p.Glu1694Ter Single submitter
p.Glu1740Ter Single submitter
p.Glu1751Ter Single submitter hereditary spherocytosis type 1
p.Glu1801Ter Single submitter
p.Glu451Ter Single submitter hereditary spherocytosis type 1
p.Glu513Ter Single submitter hereditary spherocytosis type 1
p.Glu616fs Single submitter hereditary spherocytosis type 1
p.Glu645Ter Single submitter hereditary spherocytosis type 1
p.Glu842Ter Single submitter
p.Glu878Ter Single submitter hereditary spherocytosis type 1
p.Glu883fs Single submitter
p.Gly1190Ter Single submitter hereditary spherocytosis type 1
p.Gly1612fs Single submitter hereditary spherocytosis type 1
p.Gly1675fs Single submitter hereditary spherocytosis type 1
p.Gly167fs Single submitter hereditary spherocytosis type 1
p.Gly371fs Single submitter hereditary spherocytosis type 1
p.Gly625fs Single submitter hereditary spherocytosis type 1
p.Gly923fs Single submitter hereditary spherocytosis type 1
p.His1020fs Single submitter hereditary spherocytosis type 1
p.His1676fs Single submitter hereditary spherocytosis type 1
p.His178fs Single submitter
p.His376fs Single submitter
p.Ile1188fs Single submitter hereditary spherocytosis type 1
p.Ile1435fs Single submitter hereditary spherocytosis type 1
p.Ile298fs Single submitter
p.Leu1270fs Single submitter hereditary spherocytosis type 1
p.Leu1754fs Single submitter
p.Leu177fs Single submitter ANK1-related disorder
p.Leu29fs Single submitter hereditary spherocytosis type 1
p.Leu324fs Single submitter hereditary spherocytosis type 1
p.Leu336fs Single submitter hereditary spherocytosis type 1
p.Leu417fs Single submitter hereditary spherocytosis type 1
p.Leu474fs Single submitter hereditary spherocytosis type 1
p.Leu49fs Single submitter hereditary spherocytosis type 1
p.Leu520fs Single submitter hereditary spherocytosis type 1
p.Leu64fs Single submitter hereditary spherocytosis type 1
p.Leu672fs Single submitter
p.Leu738fs Single submitter hereditary spherocytosis type 1
p.Leu850fs Single submitter
p.Leu97fs Single submitter hereditary spherocytosis type 1
p.Lys1247Ter Single submitter hereditary spherocytosis type 1
p.Lys1268Ter Single submitter
p.Lys1328delinsCysLeuTer Single submitter hereditary spherocytosis type 1
p.Lys1368Asn Single submitter hereditary spherocytosis type 1 ⚠
p.Lys1654Ter Single submitter hereditary spherocytosis type 1
p.Lys171Ter Single submitter hereditary spherocytosis type 1
p.Lys545fs Single submitter hereditary spherocytosis type 1
p.Lys611Ter Single submitter hereditary spherocytosis type 1
p.Met1407fs Single submitter
p.Phe1063fs Single submitter
p.Phe1141Ter Single submitter
p.Phe413fs Single submitter
p.Phe985_Leu986insTer Single submitter
p.Pro114fs Single submitter hereditary spherocytosis type 1
p.Pro114Leu Single submitter hereditary spherocytosis type 1
p.Pro1365fs Single submitter hereditary spherocytosis type 1
p.Pro1534fs Single submitter hereditary spherocytosis type 1
p.Pro242fs Single submitter hereditary spherocytosis type 1
p.Pro894fs Single submitter hereditary spherocytosis type 1
p.Ser1042fs Single submitter hereditary spherocytosis type 1
p.Ser1067fs Single submitter hereditary spherocytosis type 1
p.Ser1490fs Single submitter hereditary spherocytosis type 1
p.Ser15_Phe16insTer Single submitter hereditary spherocytosis type 1
p.Ser1564fs Single submitter hereditary spherocytosis type 1
p.Ser1607Ter Single submitter
p.Ser1736fs Single submitter hereditary spherocytosis type 1
p.Ser1747fs Single submitter hereditary spherocytosis type 1
p.Ser22Ter Single submitter hereditary spherocytosis type 1
p.Ser627Ter Single submitter
p.Thr1057Asn Single submitter hereditary spherocytosis type 1 ⚠
p.Thr1574fs Single submitter hereditary spherocytosis type 1
p.Thr1660fs Single submitter
p.Thr168fs Single submitter hereditary spherocytosis type 1
p.Thr1693fs Single submitter hereditary spherocytosis type 1
p.Thr1792fs Single submitter hereditary spherocytosis type 1
p.Thr942fs Single submitter hereditary spherocytosis type 1
p.Trp1017Ser Single submitter hereditary spherocytosis type 1
p.Trp1185Arg Single submitter hereditary spherocytosis type 1
p.Trp1762fs Single submitter hereditary spherocytosis type 1
p.Tyr1024Ter Single submitter hereditary spherocytosis
p.Tyr1062Ter Single submitter
p.Tyr1259fs Single submitter hereditary spherocytosis type 1
p.Tyr1259Ter Single submitter hereditary spherocytosis type 1
p.Tyr1712Ter Single submitter hereditary spherocytosis type 1
p.Tyr1750Ter Single submitter
p.Tyr603fs Single submitter hereditary spherocytosis type 1
p.Tyr702fs Single submitter hereditary spherocytosis type 1
p.Val1051fs Single submitter hereditary spherocytosis type 1
p.Val400fs Single submitter hereditary spherocytosis type 1
p.Val61fs Single submitter hereditary spherocytosis type 1
p.Val651fs Single submitter
p.Val675fs Single submitter hereditary spherocytosis type 1
p.Val717fs Single submitter hereditary spherocytosis type 1
p.Val919fs Single submitter
c.1107+1G>T No assertion criteria ANK1-related disorder
c.2461+1G>A No assertion criteria ANK1-related disorder
p.Asp1351fs No assertion criteria hereditary spherocytosis type 1
p.Ile309fs No assertion criteria ANK1-related disorder

Conflicting classifications of pathogenicity 108

c.1207-6T>C Single submitter hereditary spherocytosis type 1
c.1404+15C>T Single submitter Spherocytosis
c.2097+15C>T Single submitter hereditary spherocytosis type 1
c.2098-5T>C Single submitter hereditary spherocytosis type 1
c.2196+6G>A Single submitter hereditary spherocytosis type 1
c.2197-17G>A Single submitter hereditary spherocytosis type 1
c.229-11A>G Single submitter Spherocytosis
c.2389-10C>T Single submitter hereditary spherocytosis type 1
c.2735+10G>A Single submitter hereditary spherocytosis type 1
c.28-6_29dup Single submitter hereditary spherocytosis type 1
c.2960+13G>T Single submitter hereditary spherocytosis type 1
c.3115+9G>A Single submitter hereditary spherocytosis type 1
c.3532+13C>A Single submitter hereditary spherocytosis type 1
c.3533-10G>A Single submitter hereditary spherocytosis type 1
c.3984+12C>T Single submitter hereditary spherocytosis type 1
c.3984+6G>T Single submitter hereditary spherocytosis type 1
c.3984+9A>G Single submitter hereditary spherocytosis type 1
c.4104+12C>T Single submitter hereditary spherocytosis type 1
c.4105-5T>G Single submitter hereditary spherocytosis type 1
c.4259-1G>T Single submitter hereditary spherocytosis type 1 ⚠
c.5395-1080C>T Single submitter hereditary spherocytosis type 1
c.5544+46G>A Single submitter hereditary spherocytosis type 1 ⚠
c.5544+91C>T Single submitter hereditary spherocytosis type 1
c.711+13C>T Single submitter Spherocytosis
c.-204C>G Single submitter hereditary spherocytosis type 1
c.*1402G>T Single submitter Spherocytosis
c.*1708G>C Single submitter Spherocytosis
c.*1892G>A Single submitter Spherocytosis
c.*395T>A Single submitter Spherocytosis
c.*774A>G Single submitter hereditary spherocytosis type 1
c.*821C>T Single submitter Spherocytosis
c.*857C>A Single submitter Spherocytosis
c.*8C>A Single submitter Spherocytosis
c.*992T>C Single submitter hereditary spherocytosis type 1
p.Ala149= Single submitter hereditary spherocytosis type 1
p.Ala176= Single submitter hereditary spherocytosis type 1
p.Ala1840= Single submitter hereditary spherocytosis type 1
p.Ala1867= Single submitter Spherocytosis
p.Ala1867Val Single submitter hereditary spherocytosis type 1
p.Ala399= Single submitter hereditary spherocytosis type 1
p.Ala502= Single submitter hereditary spherocytosis type 1
p.Ala521= Single submitter hereditary spherocytosis type 1
p.Ala530= Single submitter Spherocytosis
p.Ala642= Single submitter hereditary spherocytosis type 1
p.Ala944Thr Single submitter Spherocytosis ⚠
p.Arg1218Trp Single submitter Spherocytosis ⚠
p.Arg1255Cys Single submitter hereditary spherocytosis type 1 ⚠
p.Arg1536Cys Single submitter Inborn genetic diseases ⚠
p.Arg1682Gln Single submitter Spherocytosis ⚠
p.Arg1872Gln Single submitter Inborn genetic diseases
p.Arg1872Trp Single submitter hereditary spherocytosis type 1
p.Arg322Leu Single submitter hereditary spherocytosis type 1 ⚠
p.Arg385Cys Single submitter immunodeficiency 62 ⚠
p.Arg426Gln Single submitter hereditary spherocytosis type 1 ⚠
p.Arg446Thr Single submitter Inborn genetic diseases ⚠
p.Arg699Gln Single submitter hereditary spherocytosis type 1 ⚠
p.Arg832Gln Single submitter hereditary spherocytosis type 1 ⚠
p.Asn1034= Single submitter hereditary spherocytosis type 1
p.Asn495His Single submitter hereditary spherocytosis type 1 ⚠
p.Asn495Ser Single submitter hereditary spherocytosis type 1 ⚠
p.Asn79= Single submitter hereditary spherocytosis type 1
p.Asp1658= Single submitter hereditary spherocytosis type 1
p.Asp333Asn Single submitter hereditary spherocytosis type 1 ⚠
p.Asp398= Single submitter hereditary spherocytosis type 1
p.Asp920= Single submitter hereditary spherocytosis type 1
p.Gln223= Single submitter Spherocytosis
p.Gly1190= Single submitter hereditary spherocytosis type 1
p.Gly1707Ser Single submitter Inborn genetic diseases ⚠
p.His723Asn Single submitter Spherocytosis ⚠
p.Ile1835fs Single submitter hereditary spherocytosis type 1 ⚠
p.Leu1483Arg Single submitter hereditary spherocytosis type 1 ⚠
p.Leu225= Single submitter Spherocytosis
p.Leu292= Single submitter hereditary spherocytosis type 1
p.Leu507= Single submitter Spherocytosis
p.Lys1790Asn Single submitter Inborn genetic diseases ⚠
p.Lys801= Single submitter Spherocytosis
p.Met1Thr Single submitter Inborn genetic diseases ⚠
p.Met1Val Single submitter hereditary spherocytosis type 1 ⚠
p.Pro1060Leu Single submitter hereditary spherocytosis type 1 ⚠
p.Pro1078= Single submitter Spherocytosis
p.Pro1096= Single submitter hereditary spherocytosis type 1
p.Pro1336= Single submitter hereditary spherocytosis type 1
p.Pro1379Leu Single submitter hereditary spherocytosis type 1 ⚠
p.Pro863= Single submitter hereditary spherocytosis type 1
p.Pro994= Single submitter Spherocytosis
p.Ser1011= Single submitter Spherocytosis
p.Ser1129Ile Single submitter hereditary spherocytosis type 1 ⚠
p.Ser1341Leu Single submitter Spherocytosis ⚠
p.Ser1387Asn Single submitter hereditary spherocytosis type 1 ⚠
p.Ser1447= Single submitter Spherocytosis
p.Ser620Asn Single submitter hereditary spherocytosis type 1 ⚠
p.Thr1094= Single submitter hereditary spherocytosis type 1
p.Thr1133= Single submitter Spherocytosis
p.Thr1792= Single submitter hereditary spherocytosis type 1
p.Thr1816= Single submitter Spherocytosis
p.Thr401= Single submitter hereditary spherocytosis type 1
p.Thr450= Single submitter hereditary spherocytosis type 1
p.Thr501= Single submitter hereditary spherocytosis type 1
p.Thr790= Single submitter Spherocytosis
p.Tyr711Cys Single submitter hereditary spherocytosis type 1 ⚠
p.Val1100Ile Single submitter Inborn genetic diseases ⚠
p.Val1223Ala Single submitter Spherocytosis ⚠
p.Val1277Met Single submitter hereditary spherocytosis type 1 ⚠
p.Val384Ile Single submitter Inborn genetic diseases ⚠
p.Val410= Single submitter hereditary spherocytosis type 1
p.Val463Ile Single submitter hereditary spherocytosis type 1 ⚠
p.Val542Met Single submitter hereditary spherocytosis type 1 ⚠
p.Val915= Single submitter hereditary spherocytosis type 1

Benign 100

c.1107+58G>C Multiple submitters
c.1207-200T>G Multiple submitters
c.126+30G>C Multiple submitters
c.129+125C>T Multiple submitters hereditary spherocytosis type 1
c.130-56G>A Multiple submitters
c.1306-167T>G Multiple submitters
c.1405-121C>T Multiple submitters
c.1701+109T>C Multiple submitters
c.1702-133A>C Multiple submitters
c.1702-191T>A Multiple submitters
c.1702-30G>C Multiple submitters
c.1702-54G>C Multiple submitters
c.229-47G>A Multiple submitters hereditary spherocytosis type 1
c.229-53C>T Multiple submitters
c.229-55C>T Multiple submitters
c.2296-20C>T Multiple submitters hereditary spherocytosis type 1
c.2559-101T>C Multiple submitters
c.2559-97G>A Multiple submitters
c.2637+188C>T Multiple submitters
c.2637+195A>G Multiple submitters
c.2637+88A>G Multiple submitters
c.2960+46C>T Multiple submitters
c.3115+9G>C Multiple submitters hereditary spherocytosis type 1
c.3116-122C>T Multiple submitters
c.327+42A>C Multiple submitters
c.3327+21C>G Multiple submitters hereditary spherocytosis type 1
c.3328-108C>T Multiple submitters
c.3859-195G>A Multiple submitters
c.3859-90G>A Multiple submitters
c.3859-92G>A Multiple submitters
c.4104+62A>G Multiple submitters
c.4104+85C>T Multiple submitters
c.4105-287C>T Multiple submitters
c.4258+33T>C Multiple submitters
c.4391-49C>T Multiple submitters
c.4538-52G>C Multiple submitters hereditary spherocytosis type 1
c.5096+16T>C Multiple submitters hereditary spherocytosis type 1
c.5395-1147C>G Multiple submitters hereditary spherocytosis type 1
c.5395-1162C>A Multiple submitters hereditary spherocytosis type 1
c.5395-1731T>C Multiple submitters
c.5395-209G>C Multiple submitters
c.5479-17T>C Multiple submitters hereditary spherocytosis type 1
c.5479-3T>C Multiple submitters hereditary spherocytosis type 1
c.5544+146A>G Multiple submitters
c.612+18G>C Multiple submitters hereditary spherocytosis type 1
c.612+64G>A Multiple submitters
c.810+147C>T Multiple submitters
c.909+36A>G Multiple submitters hereditary spherocytosis type 1
c.910-119A>G Multiple submitters
c.-129C>T Multiple submitters
c.-207C>G Multiple submitters
c.*2152T>G Multiple submitters Spherocytosis
c.*36+233G>A Multiple submitters
c.*36+76C>G Multiple submitters
c.*37-181G>A Multiple submitters
c.*385del Multiple submitters hereditary spherocytosis type 1
p.Ala1367= Multiple submitters hereditary spherocytosis type 1
p.Asn105= Multiple submitters hereditary spherocytosis type 1
p.Gly691= Multiple submitters hereditary spherocytosis type 1
p.Leu971= Multiple submitters hereditary spherocytosis type 1
p.Met1325Val Multiple submitters hereditary spherocytosis type 1
p.Pro199= Multiple submitters hereditary spherocytosis type 1
p.Ser1162= Multiple submitters hereditary spherocytosis type 1
p.Thr783= Multiple submitters hereditary spherocytosis type 1
p.Val1755= Multiple submitters hereditary spherocytosis type 1
c.1107+165T>C Single submitter
c.1108-28del Single submitter
c.1206+185C>T Single submitter
c.129+11331G>C Single submitter
c.1404+181G>A Single submitter
c.1800+241G>A Single submitter
c.1801-158GTTT[5] Single submitter
c.228+215C>T Single submitter
c.2295+176C>T Single submitter
c.2389-45del Single submitter
c.2461+170A>C Single submitter
c.2461+799A>C Single submitter
c.2558+128G>A Single submitter
c.2559-165T>C Single submitter
c.2559-171G>A Single submitter
c.2961-11C>T Single submitter
c.3630-73del Single submitter
c.3858+295C>T Single submitter
c.3859-318G>A Single submitter
c.4104+171T>C Single submitter
c.427-250A>G Single submitter
c.4537+321T>C Single submitter
c.5097-147C>A Single submitter
c.5394+197G>A Single submitter
c.5394+285C>G Single submitter
c.5395-1286C>T Single submitter hereditary spherocytosis type 1
c.5479-326dup Single submitter
c.711+256T>A Single submitter
c.712-136A>G Single submitter
c.712-166A>T Single submitter
c.910-147G>A Single submitter
c.*36+989dup Single submitter hereditary spherocytosis type 1
c.*37-259A>G Single submitter
c.*37-267A>G Single submitter
c.5097-30C>T No assertion criteria ANK1-related disorder

Benign/Likely benign 29

c.1999-17C>T Multiple submitters hereditary spherocytosis type 1
c.5097-34C>T Multiple submitters hereditary spherocytosis type 1
c.5544+79C>T Multiple submitters hereditary spherocytosis type 1
c.909+7A>G Multiple submitters hereditary spherocytosis type 1
c.*1609C>G Multiple submitters hereditary spherocytosis type 1
c.*1899G>A Multiple submitters hereditary spherocytosis type 1
c.*2022G>A Multiple submitters Spherocytosis
c.*238T>C Multiple submitters hereditary spherocytosis type 1
p.Ala1462Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1502= Multiple submitters hereditary spherocytosis type 1
p.Arg619His Multiple submitters hereditary spherocytosis type 1 ⚠
p.Asn218Lys Multiple submitters hereditary spherocytosis type 1
p.Asn932= Multiple submitters hereditary spherocytosis type 1
p.Asp271= Multiple submitters hereditary spherocytosis type 1
p.Glu1271= Multiple submitters hereditary spherocytosis type 1
p.Ile990= Multiple submitters hereditary spherocytosis type 1
p.Leu163= Multiple submitters Spherocytosis
p.Leu489= Multiple submitters hereditary spherocytosis type 1
p.Pro1159= Multiple submitters hereditary spherocytosis type 1
p.Pro440= Multiple submitters hereditary spherocytosis type 1
p.Pro737= Multiple submitters hereditary spherocytosis type 1
p.Ser1486= Multiple submitters hereditary spherocytosis type 1
p.Ser594= Multiple submitters hereditary spherocytosis type 1
p.Thr1075Ile Multiple submitters hereditary spherocytosis type 1
p.Thr1761= Multiple submitters hereditary spherocytosis type 1
p.Thr942= Multiple submitters hereditary spherocytosis type 1
p.Tyr327= Multiple submitters hereditary spherocytosis type 1
p.Val150= Multiple submitters hereditary spherocytosis type 1
p.Val61= Multiple submitters hereditary spherocytosis type 1

Likely benign 209

c.129+17C>T Multiple submitters hereditary spherocytosis type 1
c.1603-6C>T Multiple submitters
c.1702-4G>A Multiple submitters hereditary spherocytosis type 1
c.2559-5C>T Multiple submitters hereditary spherocytosis type 1
c.3115+8C>T Multiple submitters
c.3327+19G>T Multiple submitters hereditary spherocytosis type 1
c.4104+18G>A Multiple submitters hereditary spherocytosis type 1
c.5395-1057C>T Multiple submitters hereditary spherocytosis type 1
c.5544+15G>T Multiple submitters
c.5544+59T>A Multiple submitters hereditary spherocytosis type 1
p.Ala1222= Multiple submitters
p.Ala1367Thr Multiple submitters Inborn genetic diseases
p.Ala230= Multiple submitters
p.Ala461= Multiple submitters
p.Ala565= Multiple submitters Inborn genetic diseases
p.Ala648= Multiple submitters
p.Arg948= Multiple submitters hereditary spherocytosis type 1
p.Asn1013= Multiple submitters
p.Asn1198= Multiple submitters
p.Asn304= Multiple submitters hereditary spherocytosis type 1
p.Glu526= Multiple submitters hereditary spherocytosis type 1
p.Glu553= Multiple submitters hereditary spherocytosis type 1
p.Gly101= Multiple submitters
p.Ile419= Multiple submitters
p.Leu424= Multiple submitters
p.Pro1114= Multiple submitters hereditary spherocytosis type 1
p.Ser1015= Multiple submitters
p.Ser1341= Multiple submitters hereditary spherocytosis type 1
p.Ser632= Multiple submitters
p.Thr1156= Multiple submitters hereditary spherocytosis type 1
p.Thr1555= Multiple submitters
p.Val575= Multiple submitters
c.1107+19G>A Single submitter
c.127-39556C>T Single submitter hereditary spherocytosis type 1
c.129+11381A>G Single submitter
c.130-20C>T Single submitter
c.1305+21G>A Single submitter hereditary spherocytosis type 1
c.1405-10C>T Single submitter
c.1602+12C>T Single submitter
c.1602+17C>T Single submitter
c.1602+18G>A Single submitter hereditary spherocytosis type 1
c.1603-19A>G Single submitter hereditary spherocytosis type 1
c.1800+13C>T Single submitter hereditary spherocytosis type 1
c.1800+20C>T Single submitter
c.1801-18C>T Single submitter
c.1998+18G>A Single submitter
c.1998+20A>T Single submitter
c.1999-18A>G Single submitter
c.2097+16G>A Single submitter
c.2196+12C>A Single submitter
c.2296-18G>T Single submitter
c.2296-5C>T Single submitter hereditary spherocytosis type 1
c.2461+20C>T Single submitter hereditary spherocytosis type 1
c.2558+15C>T Single submitter
c.2735+13C>T Single submitter
c.28-17G>A Single submitter
c.2961-8T>C Single submitter
c.3115+18C>T Single submitter hereditary spherocytosis type 1
c.327+10C>T Single submitter
c.327+15G>A Single submitter
c.3327+19G>A Single submitter hereditary spherocytosis type 1
c.3532+10G>A Single submitter
c.3532+20C>T Single submitter
c.3858+6A>C Single submitter
c.3859-9C>G Single submitter hereditary spherocytosis type 1
c.3984+10C>G Single submitter hereditary spherocytosis type 1
c.3984+10C>T Single submitter hereditary spherocytosis type 1
c.427-13C>A Single submitter
c.4390+14C>T Single submitter hereditary spherocytosis type 1
c.4390+16C>T Single submitter
c.4538-6A>G Single submitter hereditary spherocytosis type 1
c.5395-1090G>A Single submitter
c.5395-1222C>T Single submitter
c.5395-1238T>G Single submitter
c.5544+69C>T Single submitter
c.5544+85C>T Single submitter hereditary spherocytosis type 1
c.5545-9T>C Single submitter hereditary spherocytosis type 1
c.612+17G>A Single submitter
c.810+15G>C Single submitter
c.810+8C>T Single submitter
c.910-11T>C Single submitter
c.910-5C>A Single submitter
c.-23C>T Single submitter
c.*1667T>A Single submitter hereditary spherocytosis type 1
p.Ala106= Single submitter
p.Ala1099= Single submitter
p.Ala1419= Single submitter
p.Ala1545= Single submitter
p.Ala1571= Single submitter
p.Ala1580= Single submitter
p.Ala1659= Single submitter
p.Ala1842= Single submitter
p.Ala428= Single submitter
p.Ala447= Single submitter
p.Ala453= Single submitter
p.Ala576= Single submitter
p.Ala630= Single submitter
p.Ala742= Single submitter
p.Ala829Pro Single submitter Inborn genetic diseases
p.Ala966= Single submitter
p.Arg1004= Single submitter
p.Arg1497= Single submitter
p.Arg1678= Single submitter
p.Arg8= Single submitter
p.Asn1360= Single submitter
p.Asn1512= Single submitter hereditary spherocytosis type 1
p.Asn238= Single submitter
p.Asn39= Single submitter
p.Asn431= Single submitter
p.Asn756= Single submitter
p.Asn761= Single submitter hereditary spherocytosis type 1
p.Asp1250= Single submitter
p.Asp1548= Single submitter
p.Asp1706= Single submitter
p.Asp1715= Single submitter
p.Asp695= Single submitter
p.Asp766Asn Single submitter Inborn genetic diseases
p.Asp784= Single submitter hereditary spherocytosis type 1
p.Cys1200= Single submitter
p.Cys1366= Single submitter
p.Gln1272= Single submitter
p.Gln1426= Single submitter
p.Glu1019= Single submitter
p.Glu1608= Single submitter
p.Glu808= Single submitter
p.Glu840= Single submitter
p.Glu842= Single submitter
p.Glu897= Single submitter
p.Gly1146= Single submitter
p.Gly1254= Single submitter
p.Gly1487= Single submitter
p.Gly1679= Single submitter
p.Gly1741= Single submitter
p.Gly1745Ser Single submitter hereditary spherocytosis type 1
p.Gly1866= Single submitter hereditary spherocytosis type 1
p.Gly668= Single submitter
p.Gly734= Single submitter
p.Gly933= Single submitter
p.His294= Single submitter
p.His343= Single submitter
p.His409= Single submitter
p.His561= Single submitter
p.Ile1076= Single submitter
p.Ile245= Single submitter
p.Ile397= Single submitter
p.Ile749= Single submitter
p.Ile749Val Single submitter Inborn genetic diseases
p.Ile825Val Single submitter Inborn genetic diseases
p.Leu1229= Single submitter hereditary spherocytosis type 1
p.Leu1293= Single submitter
p.Leu131= Single submitter
p.Leu32= Single submitter
p.Leu336= Single submitter
p.Leu554= Single submitter
p.Leu573= Single submitter hereditary spherocytosis type 1
p.Leu82= Single submitter
p.Lys1752Asn Single submitter Inborn genetic diseases
p.Phe1276= Single submitter
p.Phe795= Single submitter
p.Pro1144= Single submitter hereditary spherocytosis type 1
p.Pro1303= Single submitter
p.Pro1744= Single submitter
p.Pro1766= Single submitter
p.Pro1858= Single submitter
p.Pro562= Single submitter
p.Pro848= Single submitter
p.Ser1175= Single submitter
p.Ser1214= Single submitter
p.Ser1523= Single submitter
p.Ser1584= Single submitter
p.Ser1708= Single submitter
p.Ser1771Pro Single submitter Inborn genetic diseases
p.Ser1839= Single submitter
p.Ser22= Single submitter
p.Ser656= Single submitter
p.Ser903= Single submitter
p.Thr1168= Single submitter
p.Thr1205= Single submitter
p.Thr1352= Single submitter
p.Thr1380= Single submitter
p.Thr146= Single submitter
p.Thr1726= Single submitter
p.Thr208= Single submitter
p.Thr241= Single submitter
p.Thr73= Single submitter
p.Thr896= Single submitter
p.Thr961= Single submitter
p.Tyr1028= Single submitter
p.Tyr1349= Single submitter
p.Tyr1750= Single submitter
p.Tyr216= Single submitter
p.Tyr735= Single submitter
p.Val1007Met Single submitter hereditary spherocytosis type 1 ⚠
p.Val1176= Single submitter hereditary spherocytosis type 1
p.Val437= Single submitter
p.Val577= Single submitter
p.Val750= Single submitter
c.327+5T>G No assertion criteria ANK1-related disorder
c.5394+8C>T No assertion criteria ANK1-related disorder
c.*10G>A No assertion criteria ANK1-related disorder
p.Ala1372= No assertion criteria ANK1-related disorder
p.Gln1184= No assertion criteria ANK1-related disorder
p.Gly1035= No assertion criteria ANK1-related disorder
p.His482= No assertion criteria ANK1-related disorder
p.His574= No assertion criteria ANK1-related disorder
p.Ile509= No assertion criteria ANK1-related disorder
p.Leu654= No assertion criteria ANK1-related disorder
p.Pro236= No assertion criteria ANK1-related disorder
p.Val919= No assertion criteria ANK1-related disorder

Uncertain significance 684

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

c.129+5G>C Multiple submitters hereditary spherocytosis type 1
c.1800+3A>T Multiple submitters hereditary spherocytosis type 1
c.2389-8C>A Multiple submitters hereditary spherocytosis type 1
c.327+3A>G Multiple submitters Spherocytosis
c.3858+4A>G Multiple submitters hereditary spherocytosis type 1
c.4259-13T>C Multiple submitters hereditary spherocytosis type 1
c.4390+4A>G Multiple submitters hereditary spherocytosis type 1
c.810+5G>A Multiple submitters
c.909+9T>C Multiple submitters Spherocytosis
c.*372T>C Multiple submitters hereditary spherocytosis type 1
c.*385G>T Multiple submitters hereditary spherocytosis type 1
p.Ala1346Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ala1553Val Multiple submitters ⚠
p.Ala1590Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1659Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1789Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala312Glu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ala329Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala494Thr Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ala543Val Multiple submitters Inborn genetic diseases ⚠
p.Ala630Thr Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1001His Multiple submitters Spherocytosis ⚠
p.Arg1068Gln Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1068Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1143Ser Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1148Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1218Gln Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1255His Multiple submitters Inborn genetic diseases ⚠
p.Arg1311Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1319Trp Multiple submitters Spherocytosis ⚠
p.Arg1423Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1457His Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1491His Multiple submitters Inborn genetic diseases ⚠
p.Arg1491Pro Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1498Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1498Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1502His Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1699Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg1778Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1829Cys Multiple submitters ⚠
p.Arg261Gln Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg322Gln Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg322Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg352Gly Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg352Ser Multiple submitters Spherocytosis ⚠
p.Arg426Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg479Cys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg512Cys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg699Trp Multiple submitters ANK1-related disorder ⚠
p.Arg948Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg952His Multiple submitters hereditary spherocytosis type 1 ⚠
p.Arg95Trp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Asn1158Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1791Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Asn183Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn220Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn422Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Asp1074Asn Multiple submitters hereditary spherocytosis type 1 ⚠
p.Asp1157Asn Multiple submitters Spherocytosis ⚠
p.Asp11Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp316Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys531Phe Multiple submitters ⚠
p.Gln109= Multiple submitters hereditary spherocytosis type 1
p.Gln1809His Multiple submitters hereditary spherocytosis type 1 ⚠
p.Gln879= Multiple submitters hereditary spherocytosis type 1
p.Glu1005Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1079Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Glu1097Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1373Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1608Gln Multiple submitters hereditary spherocytosis type 1 ⚠
p.Glu1694Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1751Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Glu1767Lys Multiple submitters hereditary spherocytosis ⚠
p.Glu1847Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu217Lys Multiple submitters Spherocytosis ⚠
p.Glu272Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Glu762Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Glu840Lys Multiple submitters ⚠
p.Glu967Lys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Gly1077Arg Multiple submitters hereditary spherocytosis type 1 ⚠
p.Gly1163Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1487Ser Multiple submitters ANK1-related disorder ⚠
p.Gly1820Ser Multiple submitters ⚠
p.Gly206Glu Multiple submitters Spherocytosis ⚠
p.Gly514Cys Multiple submitters hereditary spherocytosis type 1 ⚠
p.Gly745Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly89Arg Multiple submitters hereditary spherocytosis type 1 ⚠
p.Gly933Ser Multiple submitters ANK1-related disorder ⚠
p.His1314Pro Multiple submitters Spherocytosis ⚠
p.His343Pro Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ile1076Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ile1131Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1474Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1709Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1869Arg Multiple submitters Inborn genetic diseases
p.Ile480Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Leu115Pro Multiple submitters hereditary spherocytosis type 1 ⚠
p.Leu1194Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1483Met Multiple submitters Inborn genetic diseases ⚠
p.Leu210Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Leu390Pro Multiple submitters ⚠
p.Leu663Val Multiple submitters Inborn genetic diseases ⚠
p.Lys1368= Multiple submitters hereditary spherocytosis type 1
p.Lys355Arg Multiple submitters hereditary spherocytosis type 1 ⚠
p.Lys666= Multiple submitters hereditary spherocytosis type 1
p.Lys666Asn Multiple submitters ⚠
p.Met1066Leu Multiple submitters Inborn genetic diseases ⚠
p.Met1560Ile Multiple submitters Inborn genetic diseases ⚠
p.Met311Val Multiple submitters hereditary spherocytosis type 1 ⚠
p.Met414Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Pro1060Thr Multiple submitters hereditary spherocytosis type 1 ⚠
p.Pro1114Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1237Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro1326Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1336Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1534Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Pro1744Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro440Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Pro496Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro562Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro671Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro994Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ser1214Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ser1736Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser396Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ser429Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser656Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser759Tyr Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ser765Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Ser799Arg Multiple submitters hereditary spherocytosis type 1 ⚠
p.Thr1094Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1555Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1684Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Thr1726Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1761Met Multiple submitters Inborn genetic diseases ⚠
p.Thr188Met Multiple submitters Inborn genetic diseases ⚠
p.Thr373Ser Multiple submitters Spherocytosis ⚠
p.Thr393Met Multiple submitters Inborn genetic diseases ⚠
p.Thr450Met Multiple submitters Inborn genetic diseases ⚠
p.Thr472Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Trp1541Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr1386His Multiple submitters Inborn genetic diseases ⚠
p.Tyr1514Ser Multiple submitters Inborn genetic diseases ⚠
p.Val1016Met Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val104Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val1132Asp Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val1243Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val1277Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val1480Met Multiple submitters Inborn genetic diseases ⚠
p.Val1546Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val285Met Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val356Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val410Met Multiple submitters Inborn genetic diseases ⚠
p.Val577Ile Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val847Leu Multiple submitters hereditary spherocytosis type 1 ⚠
p.Val905Met Multiple submitters hereditary spherocytosis type 1 ⚠
c.1107+5G>C Single submitter
c.1108-3C>G Single submitter hereditary spherocytosis type 1
c.1108-724G>T Single submitter hereditary spherocytosis type 1
c.1108-9G>A Single submitter hereditary spherocytosis type 1
c.1207-9_1207-6del Single submitter hereditary spherocytosis type 1
c.129+2dup Single submitter
c.1404+15C>A Single submitter hereditary spherocytosis type 1
c.1603-3C>A Single submitter hereditary spherocytosis type 1
c.1603-3C>G Single submitter
c.1801-18C>A Single submitter
c.1801-3C>G Single submitter hereditary spherocytosis type 1
c.1801-5_1801-4del Single submitter hereditary spherocytosis type 1
c.1998+3A>C Single submitter
c.1998+5G>A Single submitter hereditary spherocytosis type 1
c.1999-3C>T Single submitter
c.2097+7C>T Single submitter
c.2197-9A>G Single submitter hereditary spherocytosis type 1
c.2389-8C>T Single submitter
c.2462-26G>A Single submitter
c.2462-895A>C Single submitter
c.2559-3C>G Single submitter
c.2559-4G>A Single submitter hereditary spherocytosis type 1
c.2559-4G>C Single submitter
c.27+4A>C Single submitter
c.27+5G>A Single submitter
c.27+5G>C Single submitter hereditary spherocytosis type 1
c.3116-9T>A Single submitter
c.328-17C>T Single submitter
c.328-9G>A Single submitter
c.3328-13T>A Single submitter
c.3328-3C>T Single submitter hereditary spherocytosis type 1
c.3532+10G>T Single submitter hereditary spherocytosis type 1
c.3629+4A>T Single submitter
c.3984+5C>T Single submitter
c.3985-10T>C Single submitter hereditary spherocytosis type 1
c.3985-3T>G Single submitter
c.4104+4A>G Single submitter
c.4183+4C>T Single submitter hereditary spherocytosis type 1
c.4183+5G>A Single submitter hereditary spherocytosis type 1
c.4259-2A>C Single submitter
c.4390+5G>T Single submitter
c.4390+9C>T Single submitter Spherocytosis
c.5097-9G>A Single submitter
c.5395-1079G>A Single submitter hereditary spherocytosis type 1
c.5395-1085T>G Single submitter hereditary spherocytosis type 1
c.5395-1094C>T Single submitter ANK1-related disorder
c.5395-1157A>T Single submitter hereditary spherocytosis type 1
c.5395-1209G>A Single submitter
c.5544+11del Single submitter
c.5545-72T>G Single submitter
c.613-501A>T Single submitter
c.711+3A>C Single submitter hereditary spherocytosis type 1
c.711+3A>G Single submitter hereditary spherocytosis type 1
c.909+24C>T Single submitter
c.-33G>A Single submitter hereditary spherocytosis type 1
c.-63A>G Single submitter Spherocytosis
c.*1031G>A Single submitter Spherocytosis
c.*1062T>G Single submitter hereditary spherocytosis type 1
c.*1074A>G Single submitter Spherocytosis
c.*1120T>C Single submitter Spherocytosis
c.*117G>A Single submitter hereditary spherocytosis type 1
c.*1242G>T Single submitter Spherocytosis
c.*1250A>G Single submitter hereditary spherocytosis type 1
c.*1412G>A Single submitter hereditary spherocytosis type 1
c.*1424C>T Single submitter hereditary spherocytosis type 1
c.*1474C>T Single submitter Spherocytosis
c.*1590G>A Single submitter hereditary spherocytosis type 1
c.*1603C>G Single submitter Spherocytosis
c.*1808A>G Single submitter Spherocytosis
c.*1858A>C Single submitter Spherocytosis
c.*1880C>A Single submitter Spherocytosis
c.*1884G>A Single submitter Spherocytosis
c.*1892G>T Single submitter Spherocytosis
c.*1952G>A Single submitter Spherocytosis
c.*2123G>T Single submitter Spherocytosis
c.*2172C>A Single submitter Spherocytosis
c.*2272C>G Single submitter
c.*2281C>T Single submitter Spherocytosis
c.*2342C>G Single submitter Spherocytosis
c.*2409C>T Single submitter Spherocytosis
c.*31C>T Single submitter hereditary spherocytosis type 1
c.*32G>A Single submitter Spherocytosis
c.*36+1G>A Single submitter
c.*378T>G Single submitter Spherocytosis
c.*411C>G Single submitter Spherocytosis
c.*417G>C Single submitter
c.*437A>C Single submitter hereditary spherocytosis type 1
c.*48G>A Single submitter Spherocytosis
c.*4C>T Single submitter hereditary spherocytosis type 1
c.*64A>G Single submitter Spherocytosis
c.*651A>C Single submitter hereditary spherocytosis type 1
c.*665C>T Single submitter hereditary spherocytosis type 1
c.*701C>T Single submitter hereditary spherocytosis type 1
c.*795A>G Single submitter Spherocytosis
c.*822G>A Single submitter Spherocytosis
c.*866C>G Single submitter Spherocytosis
p.Ala10= Single submitter
p.Ala102_Asn103del Single submitter
p.Ala102Asp Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1107Thr Single submitter Inborn genetic diseases ⚠
p.Ala118Glu Single submitter ⚠
p.Ala119Gly Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1201Thr Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1235Val Single submitter Inborn genetic diseases ⚠
p.Ala1324Val Single submitter Spherocytosis ⚠
p.Ala1346Glu Single submitter Inborn genetic diseases ⚠
p.Ala1372Thr Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1372Val Single submitter Inborn genetic diseases ⚠
p.Ala1462Thr Single submitter ⚠
p.Ala151Asp Single submitter ANK1-related disorder ⚠
p.Ala1549Thr Single submitter Inborn genetic diseases ⚠
p.Ala1595Thr Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1681Ser Single submitter hereditary spherocytosis type 1 ⚠
p.Ala1768Thr Single submitter Inborn genetic diseases ⚠
p.Ala1773Pro Single submitter Inborn genetic diseases ⚠
p.Ala1773Thr Single submitter ⚠
p.Ala1840Thr Single submitter Inborn genetic diseases ⚠
p.Ala213= Single submitter hereditary spherocytosis type 1
p.Ala213Glu Single submitter hereditary spherocytosis type 1 ⚠
p.Ala300Thr Single submitter Inborn genetic diseases ⚠
p.Ala312Val Single submitter hereditary spherocytosis type 1 ⚠
p.Ala362Val Single submitter Inborn genetic diseases ⚠
p.Ala399Thr Single submitter ⚠
p.Ala399Val Single submitter ⚠
p.Ala428Thr Single submitter Inborn genetic diseases ⚠
p.Ala477Val Single submitter hereditary spherocytosis type 1 ⚠
p.Ala510Val Single submitter Inborn genetic diseases ⚠
p.Ala521Asp Single submitter ⚠
p.Ala521Pro Single submitter ⚠
p.Ala530Thr Single submitter ⚠
p.Ala560Thr Single submitter Inborn genetic diseases ⚠
p.Ala565Ser Single submitter hereditary spherocytosis type 1 ⚠
p.Ala609Thr Single submitter ⚠
p.Ala610Ser Single submitter hereditary spherocytosis type 1 ⚠
p.Ala610Val Single submitter Inborn genetic diseases ⚠
p.Ala648Thr Single submitter hereditary spherocytosis type 1 ⚠
p.Ala708Asp Single submitter hereditary spherocytosis type 1 ⚠
p.Ala708Pro Single submitter ⚠
p.Ala725_Asp726del Single submitter
p.Ala758Ser Single submitter Inborn genetic diseases ⚠
p.Ala772Thr Single submitter ⚠
p.Ala81Asp Single submitter hereditary spherocytosis type 1 ⚠
p.Ala829Ser Single submitter Inborn genetic diseases ⚠
p.Ala858Pro Single submitter hereditary spherocytosis type 1 ⚠