SAMD9L — 2519 ClinVar variants

All ClinVar germline SAMD9L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1635 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 100 Conflicting · 4 Benign · 36 Benign/Likely benign · 634 Likely benign · 1724 Uncertain significance

Full SAMD9L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1635

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 13

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

SAMD9L p.Arg986Cys Pathogenic/Likely pathogenic Multiple submitters
SAMD9L-related disorder
SAMD9L p.His880Gln Pathogenic Multiple submitters
SAMD9L-related disorder
SAMD9L p.Glu1176Lys Likely pathogenic Single submitter
spinocerebellar ataxia 49
SAMD9L p.Glu807Lys Likely pathogenic Single submitter
spinocerebellar ataxia 49
SAMD9L p.Ile908Val Likely pathogenic Single submitter
intellectual disability
SAMD9L p.Lys770Glu Likely pathogenic Single submitter
SAMD9L p.Ser1473Asn Likely pathogenic Single submitter
SAMD9L p.Thr969Ala Likely pathogenic Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Trp1180Arg Likely pathogenic Single submitter
SAMD9L p.Tyr1552Asn Likely pathogenic Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Val1512Met Pathogenic Single submitter
SAMD9L p.Arg1281Lys Pathogenic No assertion criteria
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Arg540Gly Likely pathogenic No assertion criteria
spinocerebellar ataxia 49

Predictors agree, ClinVar conflicts 78

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

SAMD9L p.Ala280Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ala637Thr Conflicting Single submitter
SAMD9L p.Arg1044Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1044His Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1107His Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1411Gln Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1465Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1523Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg1523His Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg176His Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg285Gln Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Arg589Gln Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg632Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg843Gln Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Arg986Ser Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Asn1396Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asn1456Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asn1504Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asn1516Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asn783Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asp120Val Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asp143Glu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asp169His Conflicting Single submitter
SAMD9L p.Asp475Glu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asp558Asn Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Asp708Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Gln1125Arg Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Gln1443Glu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Glu666Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Gly1204Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Gly1425Asp Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Gly690Asp Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Gly870Ser Conflicting Single submitter
SAMD9L p.His313Tyr Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile1544Val Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile1549Thr Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Ile277Val Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile327Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile452Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile732Val Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ile796Ser Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Leu1399Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Leu1433Pro Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Leu401Phe Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Leu645Pro Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Lys1258Gln Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Lys130Asn Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Lys1398Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Lys155Glu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Lys878Glu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Met115Thr Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Met1191Thr Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Met600Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Pro80Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Pro87Leu Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ser1143Asn Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ser1251Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ser1262Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ser1383Phe Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Ser1420Asn Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Ser626Leu Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Ser929Asn Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr1405Met Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr1503Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr233Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr486Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr508Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Thr596Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Trp481Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Trp517Arg Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Tyr705Cys Conflicting Single submitter
spinocerebellar ataxia 49
SAMD9L p.Val1296Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Val1361Ala Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Val141Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Val292Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Val361Ile Conflicting Single submitter
SAMD9L p.Val821Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Val914Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 1294

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 1294

SAMD9L p.Ala1073Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1087Val Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Ala1106Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1109Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1156Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1156Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1156Val Uncertain significance Multiple submitters
SAMD9L p.Ala1159Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1195Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1337Thr Uncertain significance Multiple submitters
SAMD9L p.Ala1341Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1529Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala201Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala225Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala259Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala280Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala347Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala354Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala354Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala388Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala388Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala442Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala637Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala726Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala734Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala751Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala852Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala856Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala871Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala871Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala919Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala926Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1002Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1044Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1107Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1161Ser Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Arg1188Gln Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Arg1266Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1298Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1298Gly Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Arg1298His Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Arg1339Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1457Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1465Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1465Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg1524His Uncertain significance Multiple submitters
SAMD9L p.Arg1560Met Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg176Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg176Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg223Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg288Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg344Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg463Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg519Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg540Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg589Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg597Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg629Gln Uncertain significance Multiple submitters
SAMD9L p.Arg632Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg788Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg828Gln Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Asn1014Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1019Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1081Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1116Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1138Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1140His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1174Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1396Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn140Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn1438Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn230Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn265Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn278Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn336Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn338Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn488His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn606Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn738Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn76Ser Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Asp1034Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1066Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1136Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1190His Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Asp1442Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1520His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp173His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp262Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp262Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp26Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp360Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp362Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp433Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp558Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp602Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp720Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp794Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp826Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp86Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp934Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp962Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1009Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1085Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1246Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1267Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1267Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1313Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1313Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1328Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys579Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys724Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys883Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln1316Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln131Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln1370His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln1495Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln160Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln324His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln35Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln866Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln89His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln912Glu Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Gln920His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1018Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1018Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1245Lys Uncertain significance Multiple submitters
SAMD9L p.Glu1305Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1319Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1319Val Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Glu1326Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu132Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu133Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu1541Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu179Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu220Gly Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Glu273Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu274Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu31Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu345Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu394Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu507Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu520Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu524Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu554Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu663Lys Uncertain significance Multiple submitters
SAMD9L p.Glu670Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu678Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu884Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu898Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Glu975Gly Uncertain significance Multiple submitters

Predictors split 250

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 250

SAMD9L p.Ala1087Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1106Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1386Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala227Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala280Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala442Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala522Val Benign/Likely benign Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Arg359Trp Uncertain significance Multiple submitters
SAMD9L p.Arg377Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Arg377Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asn191Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1121His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp1241Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp243Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp672Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Asp897Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1085Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys1431Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Cys228Tyr Uncertain significance Multiple submitters
spinocerebellar ataxia 49
SAMD9L p.Cys316Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln1324Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln472Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gln780Lys Uncertain significance Multiple submitters
SAMD9L p.Glu17Gly Uncertain significance Multiple submitters
SAMD9L-related disorder
SAMD9L p.Gly235Ser Uncertain significance Multiple submitters
SAMD9L p.Gly34Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Gly744Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.His18Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.His18Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.His18Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile1208Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile249Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile315Arg Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Ile722Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile818Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile835Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ile937Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Leu1071Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Leu1429Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Leu1577Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Leu604Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Lys1543Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Lys483Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Met229Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Met58Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Met752Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Met752Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe1268Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe303Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe366Leu Uncertain significance Multiple submitters
ataxia-pancytopenia syndrome
SAMD9L p.Phe564Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe679Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe896Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Phe924Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Pro1079Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Pro245Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ser1129Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ser218Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Thr209Met Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Thr421Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Thr749Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Trp1134Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Trp1435Arg Uncertain significance Multiple submitters
SAMD9L p.Trp1513Arg Uncertain significance Multiple submitters
SAMD9L-related disorder
SAMD9L p.Trp695Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Trp696Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Tyr1477Ser Uncertain significance Multiple submitters
SAMD9L-related disorder
SAMD9L p.Tyr271His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Tyr900His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Val443Met Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Val617Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Val802Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9L p.Ala1012Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1073Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1106Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1162Thr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1430Pro Uncertain significance Single submitter
SAMD9L p.Ala1430Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1472Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala1578Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala227Thr Uncertain significance Single submitter
SAMD9L p.Ala365Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala637Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala65Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Ala765Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Arg1090Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9L p.Arg232Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Arg285Leu Uncertain significance Single submitter
SAMD9L p.Arg285Trp Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 1
SAMD9L p.Arg288Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Arg526Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Arg70Cys Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Arg70Leu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Arg986His Conflicting Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Asn1116Ile Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn1138Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn1193Ile Uncertain significance Single submitter
SAMD9L p.Asn1193Lys Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn1244Lys Uncertain significance Single submitter
SAMD9L p.Asn1362Ile Uncertain significance Single submitter
SAMD9L p.Asn219Ile Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn466Lys Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn499Asp Uncertain significance Single submitter
SAMD9L p.Asn697Ile Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn697Lys Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn738Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asn769Ile Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1034Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1066His Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1098Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1241Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1338Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp13Tyr Uncertain significance Single submitter
SAMD9L p.Asp1442His Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp1444Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp308Asn Uncertain significance Single submitter
SAMD9L p.Asp54Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Asp757Tyr Uncertain significance Single submitter
SAMD9L p.Asp804Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys1431Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys316Ser Uncertain significance Single submitter
SAMD9L p.Cys660Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys664Arg Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys664Phe Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys664Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Cys839Phe Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gln1370Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gln1409Pro Uncertain significance Single submitter
SAMD9L p.Gln32Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gln912Pro Uncertain significance Single submitter
SAMD9L p.Glu1200Asp Uncertain significance Single submitter
SAMD9L p.Glu1437Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu1537Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu445Gln Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu562Ala Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu562Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu684Asp Uncertain significance Single submitter
ataxia-pancytopenia syndrome
SAMD9L p.Glu684Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu918Asp Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Glu943Asp Uncertain significance Single submitter
SAMD9L p.Gly1074Glu Uncertain significance Single submitter
SAMD9L p.Gly1199Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly1234Arg Uncertain significance Single submitter
SAMD9L p.Gly1342Arg Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly188Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly240Ala Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly34Trp Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly34Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly573Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9L p.Gly911Val Uncertain significance Single submitter
Inborn genetic diseases

All SAMD9L variants

Pathogenic 4

p.His880Gln Multiple submitters SAMD9L-related disorder ⚠
p.Val1512Met Single submitter ⚠
p.Arg1281Lys No assertion criteria monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ile891Thr No assertion criteria ataxia-pancytopenia syndrome ⚠

Pathogenic/Likely pathogenic 1

p.Arg986Cys Multiple submitters SAMD9L-related disorder ⚠

Likely pathogenic 16

p.Glu1176Lys Single submitter spinocerebellar ataxia 49 ⚠
p.Glu220Lys Single submitter
p.Glu807Lys Single submitter spinocerebellar ataxia 49 ⚠
p.Ile908Val Single submitter intellectual disability ⚠
p.Lys1008fs Single submitter spinocerebellar ataxia 49
p.Lys770fs Single submitter
p.Lys770Glu Single submitter ⚠
p.Met892Arg Single submitter ataxia-pancytopenia syndrome
p.Ser1473Asn Single submitter ⚠
p.Ser894fs Single submitter
p.Thr969Ala Single submitter ataxia-pancytopenia syndrome ⚠
p.Trp1180Arg Single submitter ⚠
p.Tyr1552Asn Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Tyr688Asn Single submitter SAMD9L-related disorder
p.Arg540Gly No assertion criteria spinocerebellar ataxia 49 ⚠
p.Phe886fs No assertion criteria interferonopathy

Conflicting classifications of pathogenicity 100

p.Ala280Ser Single submitter Inborn genetic diseases ⚠
p.Ala637Thr Single submitter ⚠
p.Ala726= Single submitter Inborn genetic diseases
p.Arg1044Cys Single submitter Inborn genetic diseases ⚠
p.Arg1044His Single submitter Inborn genetic diseases ⚠
p.Arg1090Lys Single submitter Inborn genetic diseases ⚠
p.Arg1107His Single submitter Inborn genetic diseases ⚠
p.Arg1411Gln Single submitter Inborn genetic diseases ⚠
p.Arg1465Cys Single submitter Inborn genetic diseases ⚠
p.Arg1523Cys Single submitter Inborn genetic diseases ⚠
p.Arg1523His Single submitter Inborn genetic diseases ⚠
p.Arg176His Single submitter Inborn genetic diseases ⚠
p.Arg285Gln Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Arg285Trp Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Arg406Ter Single submitter Hereditary cancer
p.Arg589Gln Single submitter Inborn genetic diseases ⚠
p.Arg632Lys Single submitter Inborn genetic diseases ⚠
p.Arg70Cys Single submitter ataxia-pancytopenia syndrome ⚠
p.Arg828Ter Single submitter spinocerebellar ataxia 49
p.Arg843Gln Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Arg986His Single submitter ataxia-pancytopenia syndrome ⚠
p.Arg986Ser Single submitter ataxia-pancytopenia syndrome ⚠
p.Asn1396Ser Single submitter Inborn genetic diseases ⚠
p.Asn1456Lys Single submitter Inborn genetic diseases ⚠
p.Asn1504Lys Single submitter Inborn genetic diseases ⚠
p.Asn1516Lys Single submitter Inborn genetic diseases ⚠
p.Asn783Lys Single submitter Inborn genetic diseases ⚠
p.Asn838Tyr Single submitter Inborn genetic diseases
p.Asp120Val Single submitter Inborn genetic diseases ⚠
p.Asp143Glu Single submitter Inborn genetic diseases ⚠
p.Asp169His Single submitter ⚠
p.Asp475Glu Single submitter Inborn genetic diseases ⚠
p.Asp558Asn Single submitter Inborn genetic diseases ⚠
p.Asp708Ala Single submitter Inborn genetic diseases ⚠
p.Gln1125Arg Single submitter ataxia-pancytopenia syndrome ⚠
p.Gln1409fs Single submitter
p.Gln1443Glu Single submitter Inborn genetic diseases ⚠
p.Gln588= Single submitter Inborn genetic diseases
p.Glu666Lys Single submitter Inborn genetic diseases ⚠
p.Glu703Ter Single submitter ataxia-pancytopenia syndrome
p.Gly1204Cys Single submitter Inborn genetic diseases ⚠
p.Gly1425Asp Single submitter Inborn genetic diseases ⚠
p.Gly690Asp Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Gly870Ser Single submitter ⚠
p.His313Tyr Single submitter Inborn genetic diseases ⚠
p.His880fs Single submitter SAMD9L-associated autoinflammatory syndrome
p.Ile1544Val Single submitter Inborn genetic diseases ⚠
p.Ile1549Thr Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ile1573Asn Single submitter Inborn genetic diseases ⚠
p.Ile277Val Single submitter Inborn genetic diseases ⚠
p.Ile327Ser Single submitter Inborn genetic diseases ⚠
p.Ile452Ser Single submitter Inborn genetic diseases ⚠
p.Ile732Val Single submitter Inborn genetic diseases ⚠
p.Ile796Ser Single submitter ataxia-pancytopenia syndrome ⚠
p.Leu1399Ser Single submitter Inborn genetic diseases ⚠
p.Leu1406= Single submitter Inborn genetic diseases
p.Leu1433Pro Single submitter ataxia-pancytopenia syndrome ⚠
p.Leu401Phe Single submitter Inborn genetic diseases ⚠
p.Leu645Gln Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Leu645Pro Single submitter Inborn genetic diseases ⚠
p.Lys1258Gln Single submitter Inborn genetic diseases ⚠
p.Lys130Asn Single submitter ataxia-pancytopenia syndrome ⚠
p.Lys1398Arg Single submitter Inborn genetic diseases ⚠
p.Lys155Glu Single submitter Inborn genetic diseases ⚠
p.Lys878Glu Single submitter Inborn genetic diseases ⚠
p.Met115Thr Single submitter Inborn genetic diseases ⚠
p.Met1191Thr Single submitter Inborn genetic diseases ⚠
p.Met600Ile Single submitter Inborn genetic diseases ⚠
p.Phe1217Leu Single submitter Inborn genetic diseases ⚠
p.Phe679Leu Single submitter ataxia-pancytopenia syndrome ⚠
p.Phe869fs Single submitter
p.Pro80Ser Single submitter Inborn genetic diseases ⚠
p.Pro87Leu Single submitter Inborn genetic diseases ⚠
p.Ser1143Asn Single submitter Inborn genetic diseases ⚠
p.Ser1251Arg Single submitter Inborn genetic diseases ⚠
p.Ser1262Ala Single submitter Inborn genetic diseases ⚠
p.Ser1383Phe Single submitter Inborn genetic diseases ⚠
p.Ser1420Asn Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ser626Leu Single submitter monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ser929Asn Single submitter Inborn genetic diseases ⚠
p.Thr1405Met Single submitter Inborn genetic diseases ⚠
p.Thr1503Ile Single submitter Inborn genetic diseases ⚠
p.Thr233Ala Single submitter Inborn genetic diseases ⚠
p.Thr486Ser Single submitter Inborn genetic diseases ⚠
p.Thr508= Single submitter Inborn genetic diseases
p.Thr508Ala Single submitter Inborn genetic diseases ⚠
p.Thr596Ala Single submitter Inborn genetic diseases ⚠
p.Trp481Arg Single submitter Inborn genetic diseases ⚠
p.Trp517Arg Single submitter ataxia-pancytopenia syndrome ⚠
p.Tyr1118Cys Single submitter ataxia-pancytopenia syndrome
p.Tyr705Cys Single submitter spinocerebellar ataxia 49 ⚠
p.Val1229= Single submitter Inborn genetic diseases
p.Val1296= Single submitter Inborn genetic diseases
p.Val1296Ile Single submitter Inborn genetic diseases ⚠
p.Val1361Ala Single submitter ataxia-pancytopenia syndrome ⚠
p.Val141Ala Single submitter Inborn genetic diseases ⚠
p.Val292Ile Single submitter Inborn genetic diseases ⚠
p.Val361Ile Single submitter ⚠
p.Val821Ile Single submitter Inborn genetic diseases ⚠
p.Val914Ile Single submitter Inborn genetic diseases ⚠

Benign 4

c.-779+11G>T Multiple submitters
p.Arg406Gln Multiple submitters
p.Arg638His Multiple submitters
p.Ser96Pro Multiple submitters

Benign/Likely benign 36

p.Ala458Ser Multiple submitters
p.Ala522Val Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ala566Thr Multiple submitters
p.Ala868= Multiple submitters
p.Arg1465His Multiple submitters Inborn genetic diseases
p.Arg232His Multiple submitters spinocerebellar ataxia 49
p.Arg501= Multiple submitters Inborn genetic diseases
p.Asn1516Thr Multiple submitters
p.Asn191His Multiple submitters Inborn genetic diseases
p.Asp1034= Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1
p.Asp128= Multiple submitters Inborn genetic diseases
p.Cys1009= Multiple submitters Inborn genetic diseases
p.Gln101= Multiple submitters
p.Gln1010Glu Multiple submitters
p.Gln170Arg Multiple submitters Inborn genetic diseases
p.Gly1137Ala Multiple submitters
p.Gly1461= Multiple submitters Inborn genetic diseases
p.Ile452= Multiple submitters Inborn genetic diseases
p.Ile908= Multiple submitters Inborn genetic diseases
p.Leu1322= Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1
p.Leu1390= Multiple submitters Inborn genetic diseases
p.Leu1432= Multiple submitters Inborn genetic diseases
p.Leu339Ile Multiple submitters spinocerebellar ataxia 49
p.Leu528= Multiple submitters Inborn genetic diseases
p.Leu833= Multiple submitters Inborn genetic diseases
p.Lys1095= Multiple submitters Inborn genetic diseases
p.Phe289Ser Multiple submitters
p.Phe709= Multiple submitters Inborn genetic diseases
p.Pro123Leu Multiple submitters
p.Ser1072= Multiple submitters Inborn genetic diseases
p.Thr665= Multiple submitters Inborn genetic diseases
p.Thr772= Multiple submitters spinocerebellar ataxia 49
p.Tyr1175Cys Multiple submitters
p.Tyr1189= Multiple submitters Inborn genetic diseases
p.Val1488Ile Multiple submitters
p.Val266Ile Multiple submitters

Likely benign 634

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

c.*99C>T Multiple submitters
p.Ala1113= Multiple submitters Inborn genetic diseases
p.Ala1156= Multiple submitters Inborn genetic diseases
p.Ala1365= Multiple submitters Inborn genetic diseases
p.Ala201= Multiple submitters Inborn genetic diseases
p.Ala354= Multiple submitters Inborn genetic diseases
p.Ala993= Multiple submitters Inborn genetic diseases
p.Arg1161= Multiple submitters Inborn genetic diseases
p.Arg1187= Multiple submitters Inborn genetic diseases
p.Arg1188= Multiple submitters Inborn genetic diseases
p.Arg1301= Multiple submitters Inborn genetic diseases
p.Arg1339= Multiple submitters Inborn genetic diseases
p.Arg176= Multiple submitters Inborn genetic diseases
p.Asn1014= Multiple submitters Inborn genetic diseases
p.Asn1019= Multiple submitters Inborn genetic diseases
p.Asn1147= Multiple submitters Inborn genetic diseases
p.Asn1221= Multiple submitters
p.Asn1516= Multiple submitters Inborn genetic diseases
p.Asn405= Multiple submitters Inborn genetic diseases
p.Asn499= Multiple submitters Inborn genetic diseases
p.Asn613= Multiple submitters Inborn genetic diseases
p.Asn618= Multiple submitters Inborn genetic diseases
p.Asn73= Multiple submitters Inborn genetic diseases
p.Asn810= Multiple submitters Inborn genetic diseases
p.Asn882= Multiple submitters Inborn genetic diseases
p.Asp1049= Multiple submitters Inborn genetic diseases
p.Asp1066= Multiple submitters Inborn genetic diseases
p.Asp1098= Multiple submitters Inborn genetic diseases
p.Asp1171= Multiple submitters Inborn genetic diseases
p.Asp194= Multiple submitters Inborn genetic diseases
p.Asp308= Multiple submitters Inborn genetic diseases
p.Asp318= Multiple submitters Inborn genetic diseases
p.Asp330= Multiple submitters Inborn genetic diseases
p.Cys1267= Multiple submitters Inborn genetic diseases
p.Cys1431= Multiple submitters Inborn genetic diseases
p.Cys163= Multiple submitters Inborn genetic diseases
p.Cys579= Multiple submitters Inborn genetic diseases
p.Cys724= Multiple submitters Inborn genetic diseases
p.Cys883= Multiple submitters Inborn genetic diseases
p.Gln1183= Multiple submitters Inborn genetic diseases
p.Gln1261= Multiple submitters Inborn genetic diseases
p.Gln131= Multiple submitters Inborn genetic diseases
p.Gln1321= Multiple submitters Inborn genetic diseases
p.Gln1324= Multiple submitters Inborn genetic diseases
p.Gln1462= Multiple submitters Inborn genetic diseases
p.Gln491= Multiple submitters Inborn genetic diseases
p.Glu1018= Multiple submitters Inborn genetic diseases
p.Glu1305= Multiple submitters Inborn genetic diseases
p.Glu1319= Multiple submitters Inborn genetic diseases
p.Glu1326= Multiple submitters Inborn genetic diseases
p.Glu1412= Multiple submitters Inborn genetic diseases
p.Glu1494= Multiple submitters Inborn genetic diseases
p.Glu276= Multiple submitters Inborn genetic diseases
p.Glu286= Multiple submitters Inborn genetic diseases
p.Glu383Lys Multiple submitters Inborn genetic diseases
p.Glu474= Multiple submitters Inborn genetic diseases
p.Glu975= Multiple submitters Inborn genetic diseases
p.Gly1510= Multiple submitters Inborn genetic diseases
p.Gly1559= Multiple submitters Inborn genetic diseases
p.Gly59= Multiple submitters Inborn genetic diseases
p.Gly639= Multiple submitters Inborn genetic diseases
p.His1218= Multiple submitters Inborn genetic diseases
p.His263= Multiple submitters Inborn genetic diseases
p.His686= Multiple submitters Inborn genetic diseases
p.Ile129= Multiple submitters Inborn genetic diseases
p.Ile1487= Multiple submitters Inborn genetic diseases
p.Ile327= Multiple submitters Inborn genetic diseases
p.Ile327Val Multiple submitters
p.Ile418= Multiple submitters
p.Ile586= Multiple submitters Inborn genetic diseases
p.Ile658= Multiple submitters Inborn genetic diseases
p.Ile669= Multiple submitters Inborn genetic diseases
p.Ile782= Multiple submitters Inborn genetic diseases
p.Ile922= Multiple submitters Inborn genetic diseases
p.Ile948= Multiple submitters Inborn genetic diseases
p.Leu1000= Multiple submitters Inborn genetic diseases
p.Leu1062= Multiple submitters Inborn genetic diseases
p.Leu1123= Multiple submitters Inborn genetic diseases
p.Leu1135= Multiple submitters Inborn genetic diseases
p.Leu1153= Multiple submitters Inborn genetic diseases
p.Leu1198= Multiple submitters Inborn genetic diseases
p.Leu1248= Multiple submitters Inborn genetic diseases
p.Leu1315= Multiple submitters Inborn genetic diseases
p.Leu1323= Multiple submitters Inborn genetic diseases
p.Leu1343= Multiple submitters Inborn genetic diseases
p.Leu1475= Multiple submitters Inborn genetic diseases
p.Leu1478= Multiple submitters Inborn genetic diseases
p.Leu1506= Multiple submitters Inborn genetic diseases
p.Leu1522= Multiple submitters Inborn genetic diseases
p.Leu1525= Multiple submitters Inborn genetic diseases
p.Leu1533= Multiple submitters Inborn genetic diseases
p.Leu1556= Multiple submitters Inborn genetic diseases
p.Leu294= Multiple submitters Inborn genetic diseases
p.Leu402= Multiple submitters Inborn genetic diseases
p.Leu504= Multiple submitters Inborn genetic diseases
p.Leu530= Multiple submitters Inborn genetic diseases
p.Leu571= Multiple submitters Inborn genetic diseases
p.Leu593= Multiple submitters Inborn genetic diseases
p.Leu624= Multiple submitters Inborn genetic diseases
p.Leu659= Multiple submitters Inborn genetic diseases
p.Leu750= Multiple submitters Inborn genetic diseases
p.Leu755= Multiple submitters Inborn genetic diseases
p.Leu822= Multiple submitters Inborn genetic diseases
p.Leu851= Multiple submitters Inborn genetic diseases
p.Leu873= Multiple submitters Inborn genetic diseases
p.Leu925= Multiple submitters Inborn genetic diseases
p.Lys1045= Multiple submitters Inborn genetic diseases
p.Lys1069= Multiple submitters Inborn genetic diseases
p.Lys1110= Multiple submitters Inborn genetic diseases
p.Lys1132= Multiple submitters Inborn genetic diseases
p.Lys1279= Multiple submitters Inborn genetic diseases
p.Lys1285= Multiple submitters Inborn genetic diseases
p.Lys1450= Multiple submitters Inborn genetic diseases
p.Lys1464= Multiple submitters Inborn genetic diseases
p.Lys1543= Multiple submitters Inborn genetic diseases
p.Lys200= Multiple submitters Inborn genetic diseases
p.Lys28= Multiple submitters Inborn genetic diseases
p.Lys371= Multiple submitters Inborn genetic diseases
p.Lys397= Multiple submitters Inborn genetic diseases
p.Lys53= Multiple submitters Inborn genetic diseases
p.Phe1083= Multiple submitters Inborn genetic diseases
p.Phe1497= Multiple submitters Inborn genetic diseases
p.Phe168= Multiple submitters Inborn genetic diseases
p.Phe224= Multiple submitters Inborn genetic diseases
p.Phe303= Multiple submitters Inborn genetic diseases
p.Phe321= Multiple submitters Inborn genetic diseases
p.Phe531= Multiple submitters Inborn genetic diseases
p.Phe762= Multiple submitters Inborn genetic diseases
p.Phe924= Multiple submitters Inborn genetic diseases
p.Pro104= Multiple submitters Inborn genetic diseases
p.Pro1215= Multiple submitters Inborn genetic diseases
p.Pro1375= Multiple submitters Inborn genetic diseases
p.Pro195= Multiple submitters Inborn genetic diseases
p.Pro299= Multiple submitters Inborn genetic diseases
p.Pro729= Multiple submitters Inborn genetic diseases
p.Pro797= Multiple submitters Inborn genetic diseases
p.Pro87= Multiple submitters Inborn genetic diseases
p.Pro95= Multiple submitters Inborn genetic diseases
p.Ser1003= Multiple submitters Inborn genetic diseases
p.Ser1075= Multiple submitters Inborn genetic diseases
p.Ser1120= Multiple submitters Inborn genetic diseases
p.Ser1255= Multiple submitters Inborn genetic diseases
p.Ser1297= Multiple submitters Inborn genetic diseases
p.Ser1317= Multiple submitters Inborn genetic diseases
p.Ser1383= Multiple submitters Inborn genetic diseases
p.Ser1458= Multiple submitters Inborn genetic diseases
p.Ser1535= Multiple submitters Inborn genetic diseases
p.Ser39= Multiple submitters Inborn genetic diseases
p.Ser393= Multiple submitters Inborn genetic diseases
p.Ser502= Multiple submitters Inborn genetic diseases
p.Ser506= Multiple submitters Inborn genetic diseases
p.Ser581= Multiple submitters Inborn genetic diseases
p.Ser626= Multiple submitters Inborn genetic diseases
p.Ser641= Multiple submitters Inborn genetic diseases
p.Ser674= Multiple submitters Inborn genetic diseases
p.Ser706= Multiple submitters Inborn genetic diseases
p.Ser820= Multiple submitters Inborn genetic diseases
p.Ser854= Multiple submitters Inborn genetic diseases
p.Ser863= Multiple submitters Inborn genetic diseases
p.Ser923= Multiple submitters Inborn genetic diseases
p.Ser93= Multiple submitters Inborn genetic diseases
p.Thr1150= Multiple submitters Inborn genetic diseases
p.Thr1170= Multiple submitters Inborn genetic diseases
p.Thr1177= Multiple submitters Inborn genetic diseases
p.Thr1207= Multiple submitters Inborn genetic diseases
p.Thr1355= Multiple submitters Inborn genetic diseases
p.Thr1405= Multiple submitters Inborn genetic diseases
p.Thr1474= Multiple submitters Inborn genetic diseases
p.Thr15= Multiple submitters Inborn genetic diseases
p.Thr203= Multiple submitters Inborn genetic diseases
p.Thr209= Multiple submitters Inborn genetic diseases
p.Thr605= Multiple submitters Inborn genetic diseases
p.Thr611= Multiple submitters Inborn genetic diseases
p.Thr620= Multiple submitters Inborn genetic diseases
p.Thr749= Multiple submitters Inborn genetic diseases
p.Thr933= Multiple submitters Inborn genetic diseases
p.Tyr1282= Multiple submitters Inborn genetic diseases
p.Tyr1346= Multiple submitters Inborn genetic diseases
p.Tyr1451= Multiple submitters Inborn genetic diseases
p.Tyr1538= Multiple submitters Inborn genetic diseases
p.Tyr181= Multiple submitters Inborn genetic diseases
p.Tyr33= Multiple submitters Inborn genetic diseases
p.Tyr384= Multiple submitters Inborn genetic diseases
p.Tyr473= Multiple submitters Inborn genetic diseases
p.Tyr490= Multiple submitters Inborn genetic diseases
p.Tyr795= Multiple submitters Inborn genetic diseases
p.Tyr859= Multiple submitters Inborn genetic diseases
p.Tyr931= Multiple submitters Inborn genetic diseases
p.Tyr950= Multiple submitters Inborn genetic diseases
p.Tyr982= Multiple submitters Inborn genetic diseases
p.Val145= Multiple submitters Inborn genetic diseases
p.Val211Ala Multiple submitters Inborn genetic diseases
p.Val221= Multiple submitters Inborn genetic diseases
p.Val23= Multiple submitters Inborn genetic diseases
p.Val241= Multiple submitters Inborn genetic diseases
p.Val42= Multiple submitters Inborn genetic diseases
p.Val5= Multiple submitters Inborn genetic diseases
p.Val582= Multiple submitters Inborn genetic diseases
p.Val617= Multiple submitters Inborn genetic diseases
p.Val798= Multiple submitters Inborn genetic diseases
p.Val811= Multiple submitters Inborn genetic diseases
p.Val821= Multiple submitters Inborn genetic diseases
p.Ala1012= Single submitter Inborn genetic diseases
p.Ala1073= Single submitter Inborn genetic diseases
p.Ala1082= Single submitter Inborn genetic diseases
p.Ala1102= Single submitter Inborn genetic diseases
p.Ala1106= Single submitter Inborn genetic diseases
p.Ala1109= Single submitter
p.Ala1162= Single submitter Inborn genetic diseases
p.Ala1195= Single submitter
p.Ala1337= Single submitter Inborn genetic diseases
p.Ala1341Ser Single submitter Inborn genetic diseases
p.Ala1386= Single submitter
p.Ala148Thr Single submitter Inborn genetic diseases
p.Ala1578= Single submitter
p.Ala189Pro Single submitter Inborn genetic diseases
p.Ala225= Single submitter Inborn genetic diseases
p.Ala227= Single submitter Inborn genetic diseases
p.Ala347= Single submitter
p.Ala365= Single submitter
p.Ala375= Single submitter Inborn genetic diseases
p.Ala566= Single submitter Inborn genetic diseases
p.Ala778= Single submitter Inborn genetic diseases
p.Ala849= Single submitter Inborn genetic diseases
p.Ala919= Single submitter Inborn genetic diseases
p.Ala977= Single submitter Inborn genetic diseases
p.Arg1002= Single submitter Inborn genetic diseases
p.Arg1076= Single submitter Inborn genetic diseases
p.Arg1077= Single submitter Inborn genetic diseases
p.Arg1168= Single submitter Inborn genetic diseases
p.Arg1298= Single submitter Inborn genetic diseases
p.Arg1411= Single submitter Inborn genetic diseases
p.Arg1457= Single submitter Inborn genetic diseases
p.Arg1465= Single submitter
p.Arg1481Lys Single submitter Inborn genetic diseases
p.Arg1557= Single submitter Inborn genetic diseases
p.Arg1560= Single submitter Inborn genetic diseases
p.Arg302= Single submitter Inborn genetic diseases
p.Arg359= Single submitter
p.Arg589= Single submitter Inborn genetic diseases
p.Arg629= Single submitter Inborn genetic diseases
p.Arg70= Single submitter Inborn genetic diseases
p.Arg788= Single submitter Inborn genetic diseases
p.Arg828= Single submitter Inborn genetic diseases
p.Arg981= Single submitter Inborn genetic diseases
p.Arg986= Single submitter Inborn genetic diseases
p.Asn1100= Single submitter
p.Asn1138= Single submitter Inborn genetic diseases
p.Asn113Lys Single submitter Inborn genetic diseases
p.Asn1179= Single submitter Inborn genetic diseases
p.Asn118= Single submitter Inborn genetic diseases
p.Asn1259= Single submitter Inborn genetic diseases
p.Asn1348= Single submitter Inborn genetic diseases
p.Asn1371= Single submitter Inborn genetic diseases
p.Asn1378= Single submitter Inborn genetic diseases
p.Asn1456= Single submitter Inborn genetic diseases
p.Asn147= Single submitter Inborn genetic diseases
p.Asn1561= Single submitter Inborn genetic diseases
p.Asn219= Single submitter Inborn genetic diseases
p.Asn265= Single submitter Inborn genetic diseases
p.Asn278= Single submitter Inborn genetic diseases
p.Asn296= Single submitter Inborn genetic diseases
p.Asn297= Single submitter Inborn genetic diseases
p.Asn30= Single submitter Inborn genetic diseases
p.Asn317Lys Single submitter Inborn genetic diseases
p.Asn466= Single submitter Inborn genetic diseases
p.Asn479= Single submitter Inborn genetic diseases
p.Asn536= Single submitter Inborn genetic diseases
p.Asn576= Single submitter
p.Asn583= Single submitter
p.Asn761= Single submitter Inborn genetic diseases
p.Asn761Lys Single submitter Inborn genetic diseases
p.Asn838= Single submitter Inborn genetic diseases
p.Asn844= Single submitter Inborn genetic diseases
p.Asn858Lys Single submitter Inborn genetic diseases
p.Asn885= Single submitter Inborn genetic diseases
p.Asp1121= Single submitter Inborn genetic diseases
p.Asp1148= Single submitter
p.Asp120= Single submitter
p.Asp1273= Single submitter Inborn genetic diseases
p.Asp1338= Single submitter Inborn genetic diseases
p.Asp1353Asn Single submitter Inborn genetic diseases
p.Asp143Asn Single submitter Inborn genetic diseases
p.Asp1442= Single submitter Inborn genetic diseases
p.Asp1444= Single submitter Inborn genetic diseases
p.Asp360= Single submitter
p.Asp407= Single submitter Inborn genetic diseases
p.Asp475= Single submitter Inborn genetic diseases
p.Asp503= Single submitter Inborn genetic diseases
p.Asp602= Single submitter
p.Asp720= Single submitter Inborn genetic diseases
p.Asp773Gly Single submitter Inborn genetic diseases
p.Asp794Glu Single submitter Inborn genetic diseases
p.Asp846= Single submitter Inborn genetic diseases
p.Asp853= Single submitter
p.Cys1141= Single submitter Inborn genetic diseases
p.Cys1196= Single submitter Inborn genetic diseases
p.Cys1299= Single submitter Inborn genetic diseases
p.Cys1299Tyr Single submitter Inborn genetic diseases
p.Cys1467= Single submitter Inborn genetic diseases

Uncertain significance 1724

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

p.Ala1073Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1087Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala1087Val Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Ala1106Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1106Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1109Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1156Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala1156Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1156Val Multiple submitters ⚠
p.Ala1159Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1195Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1337Thr Multiple submitters ⚠
p.Ala1341Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1386Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1529Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala201Val Multiple submitters Inborn genetic diseases ⚠
p.Ala225Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala227Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala259Val Multiple submitters Inborn genetic diseases ⚠
p.Ala280Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala280Val Multiple submitters Inborn genetic diseases ⚠
p.Ala347Val Multiple submitters Inborn genetic diseases ⚠
p.Ala354Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala354Val Multiple submitters Inborn genetic diseases ⚠
p.Ala388Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala388Val Multiple submitters Inborn genetic diseases ⚠
p.Ala442Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala442Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala637Val Multiple submitters Inborn genetic diseases ⚠
p.Ala726Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala734Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala751Val Multiple submitters Inborn genetic diseases ⚠
p.Ala852Val Multiple submitters Inborn genetic diseases ⚠
p.Ala856Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala871Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala871Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala919Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala926Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1002Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg1044Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1077Ter Multiple submitters ataxia-pancytopenia syndrome
p.Arg1107Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1161Ser Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Arg1188Gln Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Arg1266Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg1298Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1298Gly Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Arg1298His Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Arg1339Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1411Ter Multiple submitters
p.Arg1457Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg1465Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1465Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1524His Multiple submitters ⚠
p.Arg1560Met Multiple submitters Inborn genetic diseases ⚠
p.Arg176Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg176Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg223Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg232Cys Multiple submitters
p.Arg288Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg344Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg359Trp Multiple submitters ⚠
p.Arg377Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg377Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg463Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg519Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg540Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg589Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg597Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg597Ter Multiple submitters
p.Arg629Gln Multiple submitters ⚠
p.Arg632Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg689Ter Multiple submitters
p.Arg788Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg828Gln Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Arg841Lys Multiple submitters Inborn genetic diseases
p.Asn1014Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1019Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1019fs Multiple submitters
p.Asn103fs Multiple submitters ataxia-pancytopenia syndrome
p.Asn1081Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1116Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1138Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1140His Multiple submitters Inborn genetic diseases ⚠
p.Asn1174Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn1382Asp Multiple submitters Inborn genetic diseases
p.Asn1396Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn140Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1438Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn191Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn230Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn265Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn278Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn336Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn338Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn488His Multiple submitters Inborn genetic diseases ⚠
p.Asn606Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn738Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn76Ser Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Asp1034Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1066Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1121Asn Multiple submitters Inborn genetic diseases
p.Asp1121His Multiple submitters Inborn genetic diseases ⚠
p.Asp1136Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1190His Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Asp1241Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp1442Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1520His Multiple submitters Inborn genetic diseases ⚠
p.Asp173His Multiple submitters Inborn genetic diseases ⚠
p.Asp243Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp262Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp262Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp26Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp318del Multiple submitters
p.Asp330fs Multiple submitters ataxia-pancytopenia syndrome
p.Asp360Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp362Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp433Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp558Val Multiple submitters Inborn genetic diseases ⚠
p.Asp602Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp672Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp720Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp794Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp826Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp86Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp897Val Multiple submitters Inborn genetic diseases ⚠
p.Asp934Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp962Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys1009Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys1085Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys1085Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys1246Trp Multiple submitters Inborn genetic diseases ⚠
p.Cys1267Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys1267Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys1313Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys1313Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys1328Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys1431Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys228Tyr Multiple submitters spinocerebellar ataxia 49 ⚠
p.Cys283Gly Multiple submitters Inborn genetic diseases
p.Cys316Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys579Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys724Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys883Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln1086Glu Multiple submitters Inborn genetic diseases
p.Gln1316Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln131Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1324Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln1370His Multiple submitters Inborn genetic diseases ⚠
p.Gln1381fs Multiple submitters ataxia-pancytopenia syndrome
p.Gln1401Ter Multiple submitters
p.Gln1495Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln160Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln324His Multiple submitters Inborn genetic diseases ⚠
p.Gln35Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln472Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln569Ter Multiple submitters
p.Gln780Lys Multiple submitters ⚠
p.Gln866Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln89His Multiple submitters Inborn genetic diseases ⚠
p.Gln912Glu Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Gln920His Multiple submitters Inborn genetic diseases ⚠
p.Glu1018Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1018Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1165Ter Multiple submitters
p.Glu1245Lys Multiple submitters ⚠
p.Glu1305Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1319Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1319Val Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Glu1326Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu132Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu133Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1541Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu179Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu17Gly Multiple submitters SAMD9L-related disorder ⚠
p.Glu220Gly Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Glu273Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu274Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu31Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu345Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu394Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu507Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu520Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu524Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu554Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu663Lys Multiple submitters ⚠
p.Glu670Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu678Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu884Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu898Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu943Ala Multiple submitters Inborn genetic diseases
p.Glu975Gly Multiple submitters ⚠
p.Gly1137Glu Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Gly1461Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1479Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly154Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1554Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly235Ser Multiple submitters ⚠
p.Gly240Ter Multiple submitters
p.Gly247Ala Multiple submitters ⚠
p.Gly251Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly34Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly44Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly500Ser Multiple submitters Inborn genetic diseases
p.Gly557Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly639Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly744Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly746Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly88Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly984Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly984Ser Multiple submitters Inborn genetic diseases ⚠
p.His1005Leu Multiple submitters Inborn genetic diseases ⚠
p.His1151Arg Multiple submitters Inborn genetic diseases ⚠
p.His1227Leu Multiple submitters Inborn genetic diseases ⚠
p.His1227Tyr Multiple submitters Inborn genetic diseases ⚠
p.His1421Arg Multiple submitters Inborn genetic diseases ⚠
p.His172Arg Multiple submitters SAMD9L-related disorder ⚠
p.His180Tyr Multiple submitters Inborn genetic diseases ⚠
p.His18Arg Multiple submitters Inborn genetic diseases ⚠
p.His18Leu Multiple submitters Inborn genetic diseases ⚠
p.His18Pro Multiple submitters Inborn genetic diseases ⚠
p.His246Arg Multiple submitters Inborn genetic diseases ⚠
p.His246Gln Multiple submitters Inborn genetic diseases ⚠
p.His425Tyr Multiple submitters Inborn genetic diseases ⚠
p.His431Tyr Multiple submitters Inborn genetic diseases ⚠
p.His515Arg Multiple submitters Inborn genetic diseases ⚠
p.His607Tyr Multiple submitters Inborn genetic diseases ⚠
p.His819Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1011Thr Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Ile1026Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile1067Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1067Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile119Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile119Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1201Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1201Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1208Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile126Met Multiple submitters Inborn genetic diseases ⚠
p.Ile126Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1272Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile1287Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile129Leu Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1 ⚠
p.Ile1360Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1487Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1544Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1562Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1562Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1573Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile178Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile249Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile261Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile284Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile305Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile315Arg Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Ile315Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile332fs Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 1
p.Ile418Val Multiple submitters Inborn genetic diseases ⚠
p.Ile561Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile614Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile722Lys Multiple submitters Inborn genetic diseases ⚠
p.Ile722Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile736Val Multiple submitters Inborn genetic diseases ⚠
p.Ile777Met Multiple submitters Inborn genetic diseases ⚠
p.Ile782Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile818Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile835Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile901Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile937Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile988Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu1000Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1071Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1088Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu1153del Multiple submitters
p.Leu1153Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1198Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu1343His Multiple submitters Inborn genetic diseases ⚠
p.Leu1367Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu136Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu1429Trp Multiple submitters Inborn genetic diseases ⚠
p.Leu142Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu1447Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu1521Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu156Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1577Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu161Phe Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Leu294del Multiple submitters
p.Leu341Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu396Val Multiple submitters Inborn genetic diseases ⚠
p.Leu398_Val399insLysProLeuLeuTer Multiple submitters ataxia-pancytopenia syndrome
p.Leu402Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu409Pro Multiple submitters Inborn genetic diseases
p.Leu435fs Multiple submitters
p.Leu45Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu487Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu544Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu560Arg Multiple submitters ataxia-pancytopenia syndrome ⚠
p.Leu604Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu622Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu635fs Multiple submitters
p.Leu645Val Multiple submitters Inborn genetic diseases ⚠