Sugi Variant

Sugi Variant/ATRX

ATRX — 2602 ClinVar variants

All ClinVar germline ATRX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1015 flagged for review →

58 Pathogenic · 13 Pathogenic/Likely pathogenic · 71 Likely pathogenic · 175 Conflicting · 187 Benign · 65 Benign/Likely benign · 1155 Likely benign · 878 Uncertain significance

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

⚑ Evidence disagreements 1015

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 2

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

Predictors agree, ClinVar conflicts 108

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

Predictors lean, ClinVar uncertain 527

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 527

Predictors split 378

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 378

All ATRX variants

Pathogenic 58

  • p.Arg2386Ter Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Arg654Ter Multiple submitters ATR-X-related syndrome
  • p.Lys1030fs Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser576Ter Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.189+1G>A Single submitter
  • c.371-1201G>A Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • c.3737-3_3737-1del Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • c.3943+3G>T Single submitter
  • c.3944-2A>G Single submitter
  • c.4558-3T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-1G>A Single submitter
  • c.7201-3_7201-2del Single submitter
  • p.Ala173Thr Single submitter
  • p.Ala580fs Single submitter
  • p.Arg1372_Lys1373insTer Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1504Ter Single submitter ATR-X-related syndrome
  • p.Arg2079Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2111Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn53_Ser54insTer Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn53fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Cys200Phe Single submitter
  • p.Gln811fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu2381Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu723fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly1474Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly2465fs Single submitter
  • p.His189Gln Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Ile1680Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu904Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1357Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1439= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys159fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met2456fs Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Pro270Leu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Ser1737Tyr Single submitter
  • p.Ser2041Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser322Ter Single submitter ATRX-related disorder
  • p.Ser645fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr154_Glu155insTer Single submitter
  • p.Thr894fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Trp2001Ter Single submitter Inborn genetic diseases
  • c.134-4884_242+41del No assertion criteria intellectual disability-hypotonic facies syndrome, X-linked, 1
  • c.20+1G>A No assertion criteria alpha-thalassemia-myelodysplastic syndrome
  • c.5273-10T>A No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • c.7201-2A>G No assertion criteria Intellectual disability-hypotonic facies syndrome, X-linked
  • p.Arg1742Lys No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2271Gly No assertion criteria Intellectual disability-hypotonic facies syndrome, X-linked
  • p.Asp2035Val No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • p.Cys1614Arg No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu2388Ter No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu134fs No assertion criteria intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Leu409Ser No assertion criteria Intellectual disability-hypotonic facies syndrome, X-linked
  • p.Lys1650Asn No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys251Glu No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Pro1711Ser No assertion criteria Intellectual disability-hypotonic facies syndrome, X-linked
  • p.Ser79Ter No assertion criteria alpha-thalassemia-myelodysplastic syndrome
  • p.Tyr2084His No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr2163Cys No assertion criteria alpha thalassemia-X-linked intellectual disability syndrome

Pathogenic/Likely pathogenic 13

  • c.134-2A>G Multiple submitters Alpha-thalassemia/intellectual disability syndrome
  • p.Arg1022Ter Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2085Cys Multiple submitters congenital nervous system disorder
  • p.Arg2085His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2131Gln Multiple submitters ATRX-related disorder
  • p.Arg2178Trp Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Arg246Cys Multiple submitters Inborn genetic diseases
  • p.Arg37Ter Multiple submitters Inborn genetic diseases
  • p.Arg418Ter Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn179Ser Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Cys220Tyr Multiple submitters Inborn genetic diseases
  • p.Glu585Ter Multiple submitters
  • p.Thr1621Met Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1

Likely pathogenic 71

  • c.5449-7A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1661Cys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn247Ser Multiple submitters Inborn genetic diseases
  • p.Cys243Trp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met1761Val Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Tyr1847Cys Multiple submitters alpha-thalassemia-myelodysplastic syndrome
  • c.371-2A>G Single submitter
  • c.3943+4A>T Single submitter intellectual disability
  • c.485-1G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-2A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-3A>G Single submitter Inborn genetic diseases
  • c.5786+1del Single submitter ATR-X-related syndrome
  • c.6976-2A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala1790Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1503Ser Single submitter ⚠
  • p.Arg1739Ter Single submitter
  • p.Arg2085Leu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Arg2188Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2407Ter Single submitter
  • p.Arg246Gly Single submitter Inborn genetic diseases
  • p.Arg444Ter Single submitter
  • p.Arg466Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg808Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1615Glu Single submitter ATRX-related disorder ⚠
  • p.Asp2035Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp2383His Single submitter
  • p.Asp699fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp848Tyr Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Cys223Tyr Single submitter
  • p.Cys243Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Cys243Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Cys280Tyr Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Gln1691Pro Single submitter
  • p.Gln2398Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1502_Arg1503insValGlu Single submitter
  • p.Glu2265Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu2366Ter Single submitter alpha-thalassemia-myelodysplastic syndrome
  • p.Gly1676Cys Single submitter Short stature
  • p.His1609Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.His1609Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.His1759Asn Single submitter
  • p.His189Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile1765Met Single submitter
  • p.Ile1781Thr Single submitter ⚠
  • p.Ile1784Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile2248Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile2402fs Single submitter
  • p.Leu1645Ser Single submitter X-linked ATRX-related disorders
  • p.Leu1656Ser Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Leu229Phe Single submitter
  • p.Leu253Ser Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Lys1004Ter Single submitter alpha-thalassemia-myelodysplastic syndrome
  • p.Lys1802Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Phe1780Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro190Ala Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Pro190Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro270Arg Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Ser1772Tyr Single submitter ATRX-related disorder
  • p.Ser2043Pro Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Ser26Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser48fs Single submitter
  • p.Thr1582fs Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1884Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Trp2275Ter Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr1683Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr187Asp Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Tyr266Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr266Ter Single submitter alpha-thalassemia-myelodysplastic syndrome
  • p.Val178Asp Single submitter Global developmental delay
  • p.Asn1694Asp No assertion criteria intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Cys223Arg No assertion criteria intellectual disability-hypotonic facies syndrome, X-linked, 1

Conflicting classifications of pathogenicity 175

  • c.4120+4A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+19A>T Single submitter Inborn genetic diseases
  • c.4215-4T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4317+8T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-3T>C Single submitter Inborn genetic diseases
  • c.485-7C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-4A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-20G>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6110+15A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7200+9del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7201-4A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.1540DE[1] Single submitter Alpha-thalassemia/intellectual disability syndrome
  • p.Ala1622Val Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ala224Val Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ala2356Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala345Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala377Val Single submitter Inborn genetic diseases ⚠
  • p.Ala462= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala771Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1022Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1089Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1093Met Single submitter Inborn genetic diseases ⚠
  • p.Arg1171Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1190Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1335Ile Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Arg1401Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1417Trp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1741Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg211Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg246Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg2480Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg390Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg418Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg658= Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Arg701His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg781Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg78Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg808Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1283Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1318Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1415Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1976Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2296Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn702Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1041Val Single submitter alpha-thalassemia-myelodysplastic syndrome ⚠
  • p.Asp1051Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp1075Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp115Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp2136Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp421Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp456Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp547Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp877Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp898His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp93Val Single submitter Inborn genetic diseases ⚠
  • p.Asp959Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Cys1094Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys627Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln1150Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gln16= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln1848Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln503Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gln539Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gln811His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gln872Leu Single submitter Inborn genetic diseases ⚠
  • p.Glu1023Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1090Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1377Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1448del Single submitter Inborn genetic diseases
  • p.Glu1461_Glu1464del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1464del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1757Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu2206= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu416Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu482= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu63= Single submitter Inborn genetic diseases
  • p.Glu632Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu650Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu873Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu928Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu929Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu991Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly1031Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly1071Arg Single submitter alpha-thalassemia-myelodysplastic syndrome ⚠
  • p.Gly1217Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly1350Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly777Arg Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Gly926Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.His1853Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.His493Arg Single submitter Inborn genetic diseases ⚠
  • p.His761Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile1132Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1180Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1208Met Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile2050Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile2291Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile708Met Single submitter ATRX-related disorder ⚠
  • p.Ile841Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile85Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile85Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile964Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1129= Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1
  • p.Leu1345= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu1345Phe Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Leu2069= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu969= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1066Glu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Lys1095Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1176Met Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1185Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys1305Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys1344Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1361Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1408= Single submitter Inborn genetic diseases
  • p.Lys1929Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys396Gln Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Lys404Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys425Gln Single submitter ATRX-related disorder ⚠
  • p.Lys623Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys838Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys857Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys858Arg Single submitter Inborn genetic diseases ⚠
  • p.Met1005Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Met1635Ile Single submitter Inborn genetic diseases ⚠
  • p.Met2362Val Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Met2479Val Single submitter Inborn genetic diseases ⚠
  • p.Met536Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Met56Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Met6Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Met828Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Phe2210= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro1311= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro2478Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro449Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Pro449Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro506Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Pro622Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Pro717Leu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ser1141Asn Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ser1151Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser1990Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser1992del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser305Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser510Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser549Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser550Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser559Leu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ser750del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser783Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser915Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser985Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1146Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1146Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1358Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1404Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1529Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1621Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr480Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr480Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr509Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr899Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr1667Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Tyr1847Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr2251= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr266His Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Tyr309Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Tyr615Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val1234Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val277= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val283Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val423Ile Single submitter Inborn genetic diseases ⚠
  • p.Val895Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val921Phe Single submitter Inborn genetic diseases ⚠
  • p.Val936Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val939Leu Single submitter Alpha thalassemia X-linked intellectual disability (ATRX) syndrome ⚠

Benign 187

  • c.3943+143= Multiple submitters
  • c.4214+6A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4557+33G>A Multiple submitters
  • c.5566+5A>C Multiple submitters Inborn genetic diseases
  • c.5786+20G>A Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-24G>T Multiple submitters
  • c.595-36= Multiple submitters
  • c.6504+36T>C Multiple submitters
  • c.663-55T>A Multiple submitters
  • c.6850-31T>A Multiple submitters
  • c.6975+146C>T Multiple submitters
  • c.-14G>A Multiple submitters
  • p.Asn1214Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn237= Multiple submitters Inborn genetic diseases
  • p.Asp975Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln545Glu Multiple submitters Inborn genetic diseases
  • p.Gln883Arg Multiple submitters Inborn genetic diseases
  • p.Glu929= Multiple submitters Inborn genetic diseases
  • p.Glu990= Multiple submitters Inborn genetic diseases
  • p.His1553= Multiple submitters Inborn genetic diseases
  • p.His475Asp Multiple submitters Inborn genetic diseases
  • p.His865Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile901Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys96= Multiple submitters Inborn genetic diseases
  • p.Pro609Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1545= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr844Lys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val1181Leu Multiple submitters Inborn genetic diseases
  • c.134-304G>A Single submitter
  • c.20+12C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.21-6dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.370+8G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.371-18del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+61_3736+62del Single submitter
  • c.3737-6C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3737-9dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3810-20del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3810-20dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3944-266C>T Single submitter
  • c.4214+17T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+18del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+236C>T Single submitter
  • c.4317+13T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4317+301C>T Single submitter
  • c.4557+15T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4557+19C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-8del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-37G>T Single submitter
  • c.484+57A>C Single submitter
  • c.485-17C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-18G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+12del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+16T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5273-19A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+20T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5566+14C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5567-18C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5698-19G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5698-7dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+19C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-17C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-43T>C Single submitter
  • c.5956+16G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-15A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-9C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6110+12A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6110+226= Single submitter
  • c.6111-146A>G Single submitter
  • c.6111-9dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6218-297A>G Single submitter
  • c.6218-34A>C Single submitter
  • c.6327-18C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6504+17C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.662+11T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6849+31G>T Single submitter
  • c.6850-9dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7071+16A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7072-3T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7200+15G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala1622= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala2009Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala437= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala462Pro Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala771= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1102= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1369Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1403Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1963= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg696Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn1321Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn2392Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2419Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn2450Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn367= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn59= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn862Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1014Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1378Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp543His Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Cys1074Trp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gln1431= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln483Pro Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1024Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1136= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1209del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1443Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1458Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu2263Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu2337= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu410= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu481Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu756= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu886Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu929Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly1042Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly1589= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly619Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly832Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.His1343Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.His1831= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile1035= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile1035Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile1208Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile1216Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile2445= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile360Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile754Met Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile831Met Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu1549= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu2185= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu38= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu934= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1030= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1114= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1168Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1359Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys388= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys433Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys616Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys799Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys866Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys910Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met2446Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met2467Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met2479Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Met40Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met860Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Phe1570= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Phe888Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro1228Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Pro1296= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro2299Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro2478Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro35= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro449Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1204= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1326= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1328Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser1396= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1620Arg Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser2220Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser522= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser560Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser60= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser675Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser706Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser742Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser742Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser76Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser827Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr117= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1201= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1793= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1824= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr2339= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr670Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr810Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr894Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr899= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr900Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr1667= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr2308= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val1366Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val339= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val348Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val725Ala Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val957Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome

Benign/Likely benign 65

  • c.189+7A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-5G>A Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4699+9C>T Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-20T>C Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.5698-7del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-24GTTT[4] Multiple submitters Inborn genetic diseases
  • c.5787-24GTTT[6] Multiple submitters Inborn genetic diseases
  • p.Ala1728= Multiple submitters Inborn genetic diseases
  • p.Ala224= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala2371= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala2371Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala419= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1741= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg907Gln Multiple submitters Inborn genetic diseases
  • p.Asn1860Ser Multiple submitters Inborn genetic diseases
  • p.Asn2290Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn2361= Multiple submitters Inborn genetic diseases
  • p.Asn306Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn477Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1294His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp2008= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp705Gly Multiple submitters Inborn genetic diseases
  • p.Asp861Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp922Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln1691= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1413= Multiple submitters Inborn genetic diseases
  • p.Glu218= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu4= Multiple submitters Inborn genetic diseases
  • p.Glu723Asp Multiple submitters Inborn genetic diseases
  • p.Glu884Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu884Lys Multiple submitters Inborn genetic diseases
  • p.Gly1069= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile2291Met Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile347Met Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile435Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu2044= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Met2410Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Phe2135= Multiple submitters Inborn genetic diseases
  • p.Phe847Ser Multiple submitters Inborn genetic diseases
  • p.Pro1783= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Pro190= Multiple submitters Inborn genetic diseases
  • p.Pro667Leu Multiple submitters Inborn genetic diseases
  • p.Pro842Ser Multiple submitters Inborn genetic diseases
  • p.Ser1073Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser1153= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1324= Multiple submitters Inborn genetic diseases
  • p.Ser282= Multiple submitters Inborn genetic diseases
  • p.Ser344= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser415= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser706Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser76= Multiple submitters Inborn genetic diseases
  • p.Ser974= Multiple submitters Inborn genetic diseases
  • p.Thr1053Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1303Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1582= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr489= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr844Ala Multiple submitters Inborn genetic diseases
  • p.Thr894Pro Multiple submitters Inborn genetic diseases
  • p.Tyr2418= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr266= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val1229= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val1366Ile Multiple submitters Inborn genetic diseases
  • p.Val2006= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val542Ala Multiple submitters Inborn genetic diseases
  • p.Val556Met Multiple submitters Inborn genetic diseases

Likely benign 1155

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

  • c.134-9C>T Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.243-8dup Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.243-97G>C Multiple submitters
  • c.3737-8C>T Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-185C>T Multiple submitters
  • c.4810-19A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-4C>T Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+41A>T Multiple submitters
  • c.5697+13A>C Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.594+8A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.6110+81C>T Multiple submitters
  • c.6327-16A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.7072-8T>C Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala419Val Multiple submitters Inborn genetic diseases
  • p.Ala771Glu Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1417Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1425= Multiple submitters Inborn genetic diseases
  • p.Arg2386= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg246= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2474His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg390His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg444= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg808= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn1187Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn12Ser Multiple submitters Inborn genetic diseases
  • p.Asp1014= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1051Glu Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1349= Multiple submitters Inborn genetic diseases
  • p.Cys1718= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln1105= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln182= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gln2348= Multiple submitters Inborn genetic diseases
  • p.Gln483= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1010= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1021= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu1329= Multiple submitters Inborn genetic diseases
  • p.Glu1443= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu303= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu886Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu990Lys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly1085= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Gly1864Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1937= Multiple submitters Inborn genetic diseases
  • p.His865= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ile600Val Multiple submitters Inborn genetic diseases
  • p.Ile737Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu1851= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu2214Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu274= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Leu359= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1004Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys430= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys575= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys660= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys88= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1221= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1620Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser2320= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser384Arg Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser74= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser925= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr1621= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr2343= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr670= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr759= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Thr918Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Tyr2084= Multiple submitters Inborn genetic diseases
  • p.Tyr2163= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val1179= Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Val921= Multiple submitters Inborn genetic diseases
  • c.133+10A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.133+20G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-12C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-13T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-16A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-17T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-20_134-17del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-3T>A Single submitter
  • c.134-9_134-7del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.134-9C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.189+11T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.189+12T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.189+13A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.189+7A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-117G>A Single submitter
  • c.190-11C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-13G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-17T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-19A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-40G>A Single submitter
  • c.190-6A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-8A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.20+11A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.20+15C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.20+20C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.20+22T>C Single submitter
  • c.20+7C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.21-10G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.21-18T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.21-4A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.21-8T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.242+10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.242+18G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.242+7T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.242+9A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.243-17A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.243-4A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.370+11T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.370+6del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.370+6GT[2] Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.370+7T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+16_3736+19del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+16T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+18A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+7_3736+11del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3737-16A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3737-16A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3809+11A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3809+12T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3809+15G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3809+60A>C Single submitter
  • c.3810-14T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3810-171T>C Single submitter
  • c.3810-19A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3810-6C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+10C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+11C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+12A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+14A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+17G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+17G>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+18_3943+20del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3943+8C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3944-4T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3944-4T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3944-6A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3944-7C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4120+296C>T Single submitter
  • c.4121-11T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4121-248A>G Single submitter
  • c.4121-9A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+10T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+13del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+14T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+3_4214+6dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+7T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-14T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-15T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-18G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-20_4215-18del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-20G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-5G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-6C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4215-9T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4317+11C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4318-10A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4318-157dup Single submitter
  • c.4318-167C>T Single submitter
  • c.4318-4G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4318-5T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4318-6C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4557+12C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4557+7A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4557+8A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-12C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-12C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-13C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-19A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-19A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4558-4G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4699+11A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4700-18_4700-15del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4700-8dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4809+13G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4809+15A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4809+17A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4809+7G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-16A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-18C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-4A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-4dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-7C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-7del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4810-9T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.484+10A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.484+11G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.484+20A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.484+7A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-11C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-15A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.485-19A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+12T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+16T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+17G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+18T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+19T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+19T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-17T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-19C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-5A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-5A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4957-8C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+10_5134+11insTTA Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+16A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+8A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-10A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-11del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-14G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-16C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-4G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-6T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5135-8T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+11A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+13C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+15C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+19T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+7_5272+12del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5272+9del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5273-19A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5273-4T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+10T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+11G>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+124T>C Single submitter
  • c.5448+12T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+15C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+15C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+18A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+18del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-18_5449-17del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-4A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-5T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-6T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-8A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5449-9T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5566+11C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5566+12A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5566+7A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5566+8A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5567-11C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5567-6G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5567-8T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5697+11T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5697+18G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5697+19T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5697+9G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5698-17C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5698-19G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+10A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+16T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+7C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+7C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+8G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-13T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-17dup Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-20_5787-18del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-20G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-21T>C Single submitter
  • c.5787-24GTTT[3] Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5787-6T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.594+13C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.594+19A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.594+9del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-10C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-11T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-17del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-18C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.595-66G>C Single submitter
  • c.5956+14A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5956+18T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5956+20C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5956+7C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-10T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-5T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-6A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-7T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5957-9C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6110+132G>C Single submitter
  • c.6110+13C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6111-17C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6111-17C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6111-18A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6111-68del Single submitter
  • c.6111-8T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+11A>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+12A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+12A>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+14A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+15T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+16T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+18C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6217+244G>A Single submitter
  • c.6218-14T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6218-14T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6218-15T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6218-17T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6218-18C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome

Uncertain significance 878

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

  • c.370+5T>C Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • c.4121-3A>G Multiple submitters Inborn genetic diseases
  • c.6326+3A>G Multiple submitters Inborn genetic diseases
  • c.6699+5A>G Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ala1158Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala1690Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala2356Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala422Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala940Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1089_Lys1091del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1339Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1342Trp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1426Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1554Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg160His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1671Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1798Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg2288Cys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg2288His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg390Leu Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg418Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1165_Lys1166del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn1214Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1265Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1438Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1898Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn508His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn702Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn755Lys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1264_Asn1265insAsp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp1264Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1469Glu Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1925Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp258Gly Multiple submitters ⚠
  • p.Asp332Gly Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Asp401Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp635_Leu639del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asp774His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp775His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp791Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp896His Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Cys1122Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys280Arg Multiple submitters ATRX-related disorder ⚠
  • p.Gln503His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln689Arg Multiple submitters alpha-thalassemia-myelodysplastic syndrome ⚠
  • p.Gln883Lys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1119Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1411Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1456Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1464Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu1464dup Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Glu2105Lys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu328Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu416Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu492Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu533Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu537Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu687Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu824Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Glu8Asp Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly1219Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly1219Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2075Arg Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly2458Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly602Ser Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly864Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Gly874Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.His24Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His269Arg Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile116Val Multiple submitters ATR-X-related syndrome ⚠
  • p.Ile1738Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile2033Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile2070Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile2081Phe Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ile47Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile831Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Leu1096Trp Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Leu1340Phe Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Leu407Val Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Leu821_Glu822del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys1001Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1057Met Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1066Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1182Arg Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1182Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys1357Arg Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Lys1449_Glu1453del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys2225Arg Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys2245Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys297del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Lys494Glu Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Lys768Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys782Ile Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Lys796Asn Multiple submitters alpha-thalassemia-myelodysplastic syndrome ⚠
  • p.Lys911Gln Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Lys993Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met1117Val Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Met2029Val Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Phe2053Val Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Pro2218Leu Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Pro2299Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1067Leu Multiple submitters ATRX-related disorder ⚠
  • p.Ser1110del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1206del Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome
  • p.Ser1215Phe Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser1941Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser336Phe Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser33Asn Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser368Cys Multiple submitters alpha-thalassemia-myelodysplastic syndrome ⚠
  • p.Ser384Gly Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser706Cys Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser731Pro Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser801Pro Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ser930Thr Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr1582Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2117Ala Multiple submitters ATRX-related disorder ⚠
  • p.Thr278Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr441Arg Multiple submitters intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Thr591Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Thr837Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val2127Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val2162Ile Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val2342Met Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val277Leu Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val348Ala Multiple submitters alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Val478Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val640Ile Multiple submitters alpha-thalassemia-myelodysplastic syndrome ⚠
  • c.189+5G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.190-3T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.371-10A>G Single submitter Developmental disorder
  • c.371-2_371-1insAAG Single submitter alpha-thalassemia-myelodysplastic syndrome
  • c.371-4C>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.3736+5G>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4214+4T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4317+4A>G Single submitter
  • c.4557+5C>G Single submitter Inborn genetic diseases
  • c.4699+3A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4699+4A>G Single submitter
  • c.485-7C>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.4956+3A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5134+6G>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5273-13T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5448+4C>T Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5697+6T>A Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+3_5786+4insT Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.5786+5A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6504+3A>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.662+3A>G Single submitter Inborn genetic diseases
  • c.6849+5T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6850-5T>G Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.6975+6T>C Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • c.7072-3T>G Single submitter
  • c.-21del Single submitter
  • p.Ala1064Asp Single submitter ⚠
  • p.Ala1198Pro Single submitter ⚠
  • p.Ala1249Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala1410Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala1526Pro Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala1836Pro Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ala2009Ser Single submitter ⚠
  • p.Ala2057Gly Single submitter ⚠
  • p.Ala2057Pro Single submitter ⚠
  • p.Ala2129Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala2137Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2315Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala2344Thr Single submitter ⚠
  • p.Ala2356Thr Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ala2373Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala2389Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala2464Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala364Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala386Gly Single submitter ⚠
  • p.Ala39Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala3Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala408Thr Single submitter ⚠
  • p.Ala437Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala437Thr Single submitter ⚠
  • p.Ala443Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala462Ser Single submitter ⚠
  • p.Ala603Val Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Ala736Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Ala940Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1093Ser Single submitter ⚠
  • p.Arg1102Met Single submitter ATR-X-related syndrome ⚠
  • p.Arg1102Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1128Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1131Thr Single submitter ⚠
  • p.Arg1137Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1137Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1371Ile Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1401Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1405= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg1427Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1506His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1514Gly Single submitter ⚠
  • p.Arg1554Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1671Trp Single submitter ⚠
  • p.Arg1687Thr Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Arg1803Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg188Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1963Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg1963Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg211His Single submitter ⚠
  • p.Arg2153His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg221= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg2386Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg246His Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Arg2474Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg37Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg37Leu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg390Pro Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg498Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg658His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg701Cys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg781Pro Single submitter ⚠
  • p.Arg78Gln Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg81= Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Arg840Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg881Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Arg937Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn1123Lys Single submitter ⚠
  • p.Asn1145His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1165del Single submitter alpha thalassemia-X-linked intellectual disability syndrome
  • p.Asn1165Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1214Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1438_Lys1439insAsn Single submitter
  • p.Asn1441His Single submitter ⚠
  • p.Asn1467Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn156Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1754Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1763Asp Single submitter ⚠
  • p.Asn1768Tyr Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Asn1860Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1969His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn1975Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2219Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2321Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2321Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn237Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn2443Asp Single submitter ⚠
  • p.Asn2450Thr Single submitter intellectual disability ⚠
  • p.Asn247His Single submitter ⚠
  • p.Asn261Ile Single submitter ⚠
  • p.Asn261Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn281Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn486Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn508Lys Single submitter ⚠
  • p.Asn671Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn682Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn728Lys Single submitter ⚠
  • p.Asn755Asp Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn760Lys Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn760Ser Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn760Thr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asn867His Single submitter Inborn genetic diseases ⚠
  • p.Asp1051His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1062Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1072His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1079Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1106Glu Single submitter intellectual disability-hypotonic facies syndrome, X-linked, 1 ⚠
  • p.Asp1106Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1111Ala Single submitter ⚠
  • p.Asp1111Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1164Gly Single submitter ⚠
  • p.Asp1212Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1287Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1287Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp1294Tyr Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1325Gly Single submitter ⚠
  • p.Asp1349Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1349Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1378Gly Single submitter ⚠
  • p.Asp137Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1398His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp139Tyr Single submitter ⚠
  • p.Asp1486Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1487Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1618Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1618His Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp163Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1648Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1675Gly Single submitter ⚠
  • p.Asp1819Val Single submitter ⚠
  • p.Asp184Val Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp1905Tyr Single submitter ⚠
  • p.Asp1908Tyr Single submitter ⚠
  • p.Asp1914Glu Single submitter ⚠
  • p.Asp1926Asn Single submitter ⚠
  • p.Asp2048Tyr Single submitter ⚠
  • p.Asp2066Asn Single submitter ⚠
  • p.Asp217Asn Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp217Val Single submitter ⚠
  • p.Asp2217Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp2259Glu Single submitter ⚠
  • p.Asp2326Glu Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp2455Gly Single submitter ⚠
  • p.Asp275Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp301Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp412Gly Single submitter alpha thalassemia-X-linked intellectual disability syndrome ⚠
  • p.Asp456Gly Single submitter ⚠