SAMD9 — 2634 ClinVar variants

All ClinVar germline SAMD9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1680 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 78 Conflicting · 5 Benign · 24 Benign/Likely benign · 704 Likely benign · 1790 Uncertain significance

Full SAMD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1680

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 24

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

SAMD9 p.Arg1293Trp Pathogenic Multiple submitters
MIRAGE syndrome
SAMD9 p.Arg459Gln Pathogenic Multiple submitters
MIRAGE syndrome
SAMD9 p.Arg685Gln Pathogenic/Likely pathogenic Multiple submitters
MIRAGE syndrome
SAMD9 p.Arg824Gln Pathogenic Multiple submitters
MIRAGE syndrome
SAMD9 p.Arg982Cys Pathogenic/Likely pathogenic Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Arg982His Pathogenic/Likely pathogenic Multiple submitters
MIRAGE syndrome
SAMD9 p.Leu1511Ser Likely pathogenic Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Asp647Ala Likely pathogenic Single submitter
hereditary neoplastic syndrome
SAMD9 p.Gln937Lys Likely pathogenic Single submitter
MIRAGE syndrome
SAMD9 p.Glu974Lys Pathogenic Single submitter
Inborn genetic diseases
SAMD9 p.Gly1564Ser Likely pathogenic Single submitter
MIRAGE syndrome
SAMD9 p.His734Asp Likely pathogenic Single submitter
MIRAGE syndrome
SAMD9 p.Ile750Phe Likely pathogenic Single submitter
SAMD9 p.Lys1353Glu Likely pathogenic Single submitter
hereditary neoplastic syndrome
SAMD9 p.Lys1495Glu Pathogenic Single submitter
normophosphatemic familial tumoral calcinosis
SAMD9 p.Phe882Val Likely pathogenic Single submitter
SAMD9 p.Ser1566Gly Likely pathogenic Single submitter
MIRAGE syndrome
SAMD9 p.Ser623Phe Likely pathogenic Single submitter
SAMD9-related disorder
SAMD9 p.Thr767Lys Likely pathogenic Single submitter
SAMD9 p.Thr932Ile Likely pathogenic Single submitter
MIRAGE syndrome
SAMD9 p.Asp769Asn Pathogenic No assertion criteria
MIRAGE syndrome
SAMD9 p.Glu1136Gln Pathogenic No assertion criteria
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Leu641Arg Likely pathogenic No assertion criteria
MIRAGE syndrome
SAMD9 p.Lys676Glu Pathogenic No assertion criteria
monosomy 7 myelodysplasia and leukemia syndrome 2

Predictors agree, ClinVar conflicts 50

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

SAMD9 p.Ala370Val Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Ala785Thr Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Ala949Ser Conflicting Single submitter
SAMD9 p.Arg1040Cys Conflicting Single submitter
SAMD9 p.Arg106Cys Conflicting Single submitter
intellectual disability
SAMD9 p.Arg1173Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg1293Gln Conflicting Single submitter
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Arg1473Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg1533Gln Conflicting Single submitter
SAMD9-related disorder
SAMD9 p.Arg174His Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg221Gln Conflicting Single submitter
SAMD9 p.Arg75Gln Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg788His Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Asn1101Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Asn254Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Asn355Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Asp805Gly Conflicting Single submitter
MIRAGE syndrome
SAMD9 p.Asp81Val Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Gln1209Leu Conflicting Single submitter
SAMD9 p.Gln1355His Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Glu334Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Glu457Ala Conflicting Single submitter
SAMD9 p.Glu880Lys Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Glu898Ala Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Gly1142Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Gly116Asp Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Gly1466Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Gly1575Glu Conflicting Single submitter
MIRAGE syndrome
SAMD9 p.His1059Arg Conflicting Single submitter
SAMD9 p.His1470Tyr Conflicting Single submitter
SAMD9-related disorder
SAMD9 p.His1472Tyr Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.His275Arg Conflicting Single submitter
SAMD9 p.Ile1150Thr Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Leu1373Phe Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Leu142Phe Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Lys1024Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Lys1487Arg Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Met1022Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Met1471Ile Conflicting Single submitter
normophosphatemic familial tumoral calcinosis
SAMD9 p.Phe437Cys Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Pro1400Ser Conflicting Single submitter
SAMD9 p.Pro848Ser Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Ser1074Gly Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Ser610Gly Conflicting Single submitter
Hereditary cancer
SAMD9 p.Thr353Met Conflicting Single submitter
MIRAGE syndrome
SAMD9 p.Tyr1426His Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Val101Leu Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Val1589Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Val792Ile Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Val807Ile Conflicting Single submitter
SAMD9-related disorder

Predictors lean, ClinVar uncertain 1263

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 1263

SAMD9 p.Ala1057Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1069Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1082Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1087Val Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Ala1102Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala123Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1290Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1457Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1457Val Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Ala1583Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala376Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala382Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala562Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala592Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala716Thr Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Ala817Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala845Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala922Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala922Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala95Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg1040Gly Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Arg1040His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg1077Gln Uncertain significance Multiple submitters
SAMD9 p.Arg1188Gln Uncertain significance Multiple submitters
SAMD9 p.Arg1188Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg1226Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg1334Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg1403Ser Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Arg1473His Uncertain significance Multiple submitters
SAMD9 p.Arg1488Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg153Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg174Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg230His Uncertain significance Multiple submitters
SAMD9 p.Arg285Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg515Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg902Gln Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Asn1064Lys Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Asn1064Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1079His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1244Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1283Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1315Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1462Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1537Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn1546Ser Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Asn189Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn202Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn254Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn265Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn269Asp Uncertain significance Multiple submitters
SAMD9 p.Asn407Ser Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Asn418Asp Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Asn418Ser Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Asn615Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn893Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asn925His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1010Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1061Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1061His Uncertain significance Multiple submitters
SAMD9 p.Asp1172Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1237Ala Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Asp1241Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1241His Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Asp1272Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1272His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1357Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp148His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1499Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1499Gly Uncertain significance Multiple submitters
monosomy 7 myelodysplasia and leukemia syndrome 2
SAMD9 p.Asp1516Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp29Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp29Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp319Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp345Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp365Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp365Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp406Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp40Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp423Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp423Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp443Val Uncertain significance Multiple submitters
SAMD9 p.Asp56Ala Uncertain significance Multiple submitters
SAMD9 p.Asp588His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp588Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp599Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp668Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp799His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp881Asn Uncertain significance Multiple submitters
normophosphatemic familial tumoral calcinosis
SAMD9 p.Cys605Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys656Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys721Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys760Arg Uncertain significance Multiple submitters
SAMD9 p.Cys760Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys979Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln103Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1086Pro Uncertain significance Multiple submitters
SAMD9 p.Gln112Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1168Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1198Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1314Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1314Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1444Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln1560Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln30Arg Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Gln317Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln39Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln811Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln839Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gln99Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1014Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1044Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1165Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1179Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1202Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1245Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1288Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1312Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1349Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu1417Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu144Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu144Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu152Gly Uncertain significance Multiple submitters
SAMD9 p.Glu1587Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu17Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu600Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu613Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu653Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu681Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu68Lys Uncertain significance Multiple submitters
SAMD9 p.Glu715Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu753Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu775Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu80Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Glu861Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1045Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1045Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1048Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1124Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly116Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly116Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1196Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1199Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly233Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly496Asp Uncertain significance Multiple submitters
SAMD9 p.Gly537Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly89Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly907Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly945Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.His1043Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.His1059Tyr Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 343

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 343

SAMD9 p.Ala1066Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1195Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1297Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1391Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg285Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg344Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Arg373Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1121Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1121Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp1342Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Asp351Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys283Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys283Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys577Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys741Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Cys835Arg Uncertain significance Multiple submitters
SAMD9 p.Glu558Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1196Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1196Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1204Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1234Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1240Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1484Arg Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Gly1544Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1544Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly1580Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly186Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly249Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly58Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Gly740Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.His530Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.His737Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.His737Asn Uncertain significance Multiple submitters
SAMD9 p.Ile1393Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ile1586Thr Uncertain significance Multiple submitters
SAMD9 p.Ile28Thr Uncertain significance Multiple submitters
normophosphatemic familial tumoral calcinosis
SAMD9 p.Ile305Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ile352Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ile525Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ile654Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ile733Thr Uncertain significance Multiple submitters
normophosphatemic familial tumoral calcinosis
SAMD9 p.Leu1250Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu1415Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu1424Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu260Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu369Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu483Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu590Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu632Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Leu70Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Lys916Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Met1471Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Met57Val Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Met886Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe1217Leu Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Phe1217Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe1231Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe1307Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe1439Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe197Leu Uncertain significance Multiple submitters
SAMD9 p.Phe222Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe222Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe313Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe321Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe339Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe342Ser Uncertain significance Multiple submitters
SAMD9 p.Phe543Leu Uncertain significance Multiple submitters
SAMD9 p.Phe882Cys Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Phe885Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe918Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Phe956Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Pro1114Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Pro1114His Uncertain significance Multiple submitters
SAMD9 p.Pro1215Leu Uncertain significance Multiple submitters
SAMD9 p.Pro193Leu Uncertain significance Multiple submitters
Differences in sex development
SAMD9 p.Pro243Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Pro507Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ser1166Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ser1263Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ser1463Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ser1577Pro Uncertain significance Multiple submitters
SAMD9-related disorder
SAMD9 p.Ser678Pro Uncertain significance Multiple submitters
SAMD9 p.Ser838Leu Uncertain significance Multiple submitters
SAMD9 p.Thr15Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Thr234Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Thr399Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Trp436Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Trp691Arg Uncertain significance Multiple submitters
MIRAGE syndrome
SAMD9 p.Trp692Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Trp752Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Tyr1369His Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Tyr1456Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val1067Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val1146Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val1146Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val1493Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val1523Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val290Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Val542Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SAMD9 p.Ala1082Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1087Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1162Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1249Pro Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1341Thr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1341Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala1459Val Uncertain significance Single submitter
SAMD9 p.Ala1583Val Uncertain significance Single submitter
SAMD9 p.Ala225Thr Uncertain significance Single submitter
SAMD9 p.Ala280Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala438Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala461Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala64Thr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Ala922Asp Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg1077Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg1090Lys Uncertain significance Single submitter
SAMD9 p.Arg1132Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg1529Cys Uncertain significance Single submitter
SAMD9 p.Arg1529His Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg1533Gly Uncertain significance Single submitter
SAMD9 p.Arg221Leu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg230Pro Uncertain significance Single submitter
SAMD9 p.Arg33Gly Conflicting Single submitter
Inborn genetic diseases
SAMD9 p.Arg373Thr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg497Thr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg630Ser Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg708Lys Uncertain significance Single submitter
SAMD9 p.Arg759Ile Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Arg902Trp Uncertain significance Single submitter
SAMD9 p.Asn1116Lys Uncertain significance Single submitter
SAMD9 p.Asn296Ile Uncertain significance Single submitter
SAMD9 p.Asn296Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asn42Lys Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asn615Lys Uncertain significance Single submitter
SAMD9 p.Asn658Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asn899Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp1098Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp1237Tyr Uncertain significance Single submitter
SAMD9 p.Asp1342Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp1342His Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp1507Val Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp241Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp308Asn Uncertain significance Single submitter
SAMD9 p.Asp308Gly Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp351Gly Uncertain significance Single submitter
MIRAGE syndrome
SAMD9 p.Asp351Val Conflicting Single submitter
SAMD9 p.Asp443His Uncertain significance Single submitter
SAMD9 p.Asp554Glu Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Asp554Gly Uncertain significance Single submitter
SAMD9 p.Asp800Tyr Uncertain significance Single submitter
Inborn genetic diseases
SAMD9 p.Cys1085Arg Uncertain significance Single submitter
Inborn genetic diseases

All SAMD9 variants

Pathogenic 9

p.Arg1293Trp Multiple submitters MIRAGE syndrome ⚠
p.Arg459Gln Multiple submitters MIRAGE syndrome ⚠
p.Arg824Gln Multiple submitters MIRAGE syndrome ⚠
p.Ala1338fs Single submitter
p.Glu974Lys Single submitter Inborn genetic diseases ⚠
p.Lys1495Glu Single submitter normophosphatemic familial tumoral calcinosis ⚠
p.Asp769Asn No assertion criteria MIRAGE syndrome ⚠
p.Glu1136Gln No assertion criteria monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Lys676Glu No assertion criteria monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠

Pathogenic/Likely pathogenic 3

p.Arg685Gln Multiple submitters MIRAGE syndrome ⚠
p.Arg982Cys Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Arg982His Multiple submitters MIRAGE syndrome ⚠

Likely pathogenic 21

p.Leu1511Ser Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Asp647Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gln326fs Single submitter MIRAGE syndrome
p.Gln937Lys Single submitter MIRAGE syndrome ⚠
p.Gly1564Ser Single submitter MIRAGE syndrome ⚠
p.His734Asp Single submitter MIRAGE syndrome ⚠
p.Ile618Thr Single submitter ⚠
p.Ile732Ser Single submitter
p.Ile750Phe Single submitter ⚠
p.Lys1353Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys868Thr Single submitter MIRAGE syndrome ⚠
p.Phe882Val Single submitter ⚠
p.Ser1566Gly Single submitter MIRAGE syndrome ⚠
p.Ser348fs Single submitter
p.Ser623Phe Single submitter SAMD9-related disorder ⚠
p.Thr767Lys Single submitter ⚠
p.Thr932Ile Single submitter MIRAGE syndrome ⚠
p.Tyr410Asp Single submitter Inborn genetic diseases ⚠
p.His749Gln No assertion criteria MIRAGE syndrome ⚠
p.Leu641Arg No assertion criteria MIRAGE syndrome ⚠
p.Val45fs No assertion criteria normophosphatemic familial tumoral calcinosis

Conflicting classifications of pathogenicity 78

c.-8-1G>A Single submitter MIRAGE syndrome
c.*8A>G Single submitter
p.Ala370Val Single submitter Inborn genetic diseases ⚠
p.Ala785Thr Single submitter Inborn genetic diseases ⚠
p.Ala949Ser Single submitter ⚠
p.Arg1040Cys Single submitter ⚠
p.Arg106Cys Single submitter intellectual disability ⚠
p.Arg1173Ser Single submitter Inborn genetic diseases ⚠
p.Arg1293Gln Single submitter monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Arg1473Cys Single submitter Inborn genetic diseases ⚠
p.Arg1529His Single submitter Inborn genetic diseases ⚠
p.Arg1533= Single submitter Inborn genetic diseases
p.Arg1533Gln Single submitter SAMD9-related disorder ⚠
p.Arg174His Single submitter Inborn genetic diseases ⚠
p.Arg221Gln Single submitter ⚠
p.Arg33Gly Single submitter Inborn genetic diseases ⚠
p.Arg75Gln Single submitter Inborn genetic diseases ⚠
p.Arg788His Single submitter Inborn genetic diseases ⚠
p.Arg824Ter Single submitter
p.Asn1081= Single submitter Inborn genetic diseases
p.Asn1101Ser Single submitter Inborn genetic diseases ⚠
p.Asn254Ser Single submitter Inborn genetic diseases ⚠
p.Asn355Ser Single submitter Inborn genetic diseases ⚠
p.Asn720fs Single submitter MIRAGE syndrome
p.Asp351Val Single submitter ⚠
p.Asp406= Single submitter Inborn genetic diseases
p.Asp805Gly Single submitter MIRAGE syndrome ⚠
p.Asp81Val Single submitter Inborn genetic diseases ⚠
p.Cys656= Single submitter Inborn genetic diseases
p.Gln1209Leu Single submitter ⚠
p.Gln1355His Single submitter Inborn genetic diseases ⚠
p.Gln154Ter Single submitter MIRAGE syndrome
p.Glu334Lys Single submitter Inborn genetic diseases ⚠
p.Glu457Ala Single submitter ⚠
p.Glu600fs Single submitter normophosphatemic familial tumoral calcinosis
p.Glu880Lys Single submitter Inborn genetic diseases ⚠
p.Glu898Ala Single submitter Inborn genetic diseases ⚠
p.Gly1142Arg Single submitter Inborn genetic diseases ⚠
p.Gly116Asp Single submitter Inborn genetic diseases ⚠
p.Gly1466Arg Single submitter Inborn genetic diseases ⚠
p.Gly1575Glu Single submitter MIRAGE syndrome ⚠
p.Gly391Ter Single submitter normophosphatemic familial tumoral calcinosis
p.His1059Arg Single submitter ⚠
p.His1470Tyr Single submitter SAMD9-related disorder ⚠
p.His1472Tyr Single submitter Inborn genetic diseases ⚠
p.His275Arg Single submitter ⚠
p.Ile1150Thr Single submitter Inborn genetic diseases ⚠
p.Ile1553Thr Single submitter monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Ile1578= Single submitter Inborn genetic diseases
p.Leu1072Pro Single submitter ⚠
p.Leu1373Phe Single submitter Inborn genetic diseases ⚠
p.Leu142Phe Single submitter Inborn genetic diseases ⚠
p.Leu1460= Single submitter Inborn genetic diseases
p.Leu1558Ter Single submitter
p.Leu397= Single submitter Inborn genetic diseases
p.Leu905= Single submitter Inborn genetic diseases
p.Lys1024Arg Single submitter Inborn genetic diseases ⚠
p.Lys1487Arg Single submitter Inborn genetic diseases ⚠
p.Met1022Ile Single submitter Inborn genetic diseases ⚠
p.Met1471Ile Single submitter normophosphatemic familial tumoral calcinosis ⚠
p.Phe437Cys Single submitter Inborn genetic diseases ⚠
p.Pro1400Ser Single submitter ⚠
p.Pro841= Single submitter Inborn genetic diseases
p.Pro848Ser Single submitter Inborn genetic diseases ⚠
p.Ser1074Gly Single submitter Inborn genetic diseases ⚠
p.Ser610Gly Single submitter Hereditary cancer ⚠
p.Ser627fs Single submitter MIRAGE syndrome
p.Thr353Met Single submitter MIRAGE syndrome ⚠
p.Thr425fs Single submitter normophosphatemic familial tumoral calcinosis
p.Trp752Arg Single submitter monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Tyr1127Ter Single submitter normophosphatemic familial tumoral calcinosis
p.Tyr1426His Single submitter Inborn genetic diseases ⚠
p.Tyr896His Single submitter Inborn genetic diseases ⚠
p.Val101Leu Single submitter Inborn genetic diseases ⚠
p.Val1408= Single submitter Inborn genetic diseases
p.Val1589Ile Single submitter Inborn genetic diseases ⚠
p.Val792Ile Single submitter Inborn genetic diseases ⚠
p.Val807Ile Single submitter SAMD9-related disorder ⚠

Benign 5

p.Asn449Ser Multiple submitters
p.Glu1521Lys Multiple submitters
p.Lys894Glu Multiple submitters
p.Gly952Arg Single submitter
p.Tyr320Asp Single submitter

Benign/Likely benign 24

p.Ala1057= Multiple submitters Inborn genetic diseases
p.Ala132= Multiple submitters Inborn genetic diseases
p.Ala1556Thr Multiple submitters Inborn genetic diseases
p.Ala454Thr Multiple submitters normophosphatemic familial tumoral calcinosis
p.Arg75Trp Multiple submitters
p.Asn1221= Multiple submitters Inborn genetic diseases
p.Asn449= Multiple submitters normophosphatemic familial tumoral calcinosis
p.Asp1218Ter Multiple submitters normophosphatemic familial tumoral calcinosis
p.Asp255= Multiple submitters Inborn genetic diseases
p.Asp881Gly Multiple submitters normophosphatemic familial tumoral calcinosis
p.Gln604= Multiple submitters MIRAGE syndrome
p.Glu1065= Multiple submitters Inborn genetic diseases
p.Glu1368Lys Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Gly952Ala Multiple submitters
p.Ile143Thr Multiple submitters
p.Ile1578Thr Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Ile332Thr Multiple submitters
p.Lys620= Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Phe1275= Multiple submitters
p.Ser86Phe Multiple submitters normophosphatemic familial tumoral calcinosis
p.Thr479Met Multiple submitters
p.Tyr320= Multiple submitters
p.Val549Leu Multiple submitters
p.Val640= Multiple submitters Inborn genetic diseases

Likely benign 704

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

p.Ala1087= Multiple submitters Inborn genetic diseases
p.Ala1089= Multiple submitters Inborn genetic diseases
p.Ala1151= Multiple submitters Inborn genetic diseases
p.Ala1162= Multiple submitters Inborn genetic diseases
p.Ala1249= Multiple submitters Inborn genetic diseases
p.Ala1556= Multiple submitters Inborn genetic diseases
p.Ala204= Multiple submitters Inborn genetic diseases
p.Ala280= Multiple submitters Inborn genetic diseases
p.Ala44= Multiple submitters Inborn genetic diseases
p.Ala845= Multiple submitters Inborn genetic diseases
p.Arg1038= Multiple submitters Inborn genetic diseases
p.Arg1040= Multiple submitters Inborn genetic diseases
p.Arg107= Multiple submitters Inborn genetic diseases
p.Arg1132= Multiple submitters Inborn genetic diseases
p.Arg1294= Multiple submitters Inborn genetic diseases
p.Arg1473= Multiple submitters Inborn genetic diseases
p.Arg302= Multiple submitters Inborn genetic diseases
p.Arg536= Multiple submitters Inborn genetic diseases
p.Arg75= Multiple submitters Inborn genetic diseases
p.Arg788= Multiple submitters Inborn genetic diseases
p.Asn10= Multiple submitters Inborn genetic diseases
p.Asn1003Ser Multiple submitters normophosphatemic familial tumoral calcinosis
p.Asn1138= Multiple submitters Inborn genetic diseases
p.Asn1141= Multiple submitters Inborn genetic diseases
p.Asn1367= Multiple submitters Inborn genetic diseases
p.Asn1443= Multiple submitters Inborn genetic diseases
p.Asn171= Multiple submitters Inborn genetic diseases
p.Asn232= Multiple submitters Inborn genetic diseases
p.Asn327= Multiple submitters Inborn genetic diseases
p.Asn330= Multiple submitters Inborn genetic diseases
p.Asn385= Multiple submitters Inborn genetic diseases
p.Asn418= Multiple submitters Inborn genetic diseases
p.Asn899= Multiple submitters Inborn genetic diseases
p.Asp1030= Multiple submitters Inborn genetic diseases
p.Asp1041= Multiple submitters Inborn genetic diseases
p.Asp1172= Multiple submitters Inborn genetic diseases
p.Asp12= Multiple submitters Inborn genetic diseases
p.Asp1218= Multiple submitters Inborn genetic diseases
p.Asp13= Multiple submitters Inborn genetic diseases
p.Asp1305= Multiple submitters Inborn genetic diseases
p.Asp1447= Multiple submitters Inborn genetic diseases
p.Asp148= Multiple submitters Inborn genetic diseases
p.Asp29= Multiple submitters Inborn genetic diseases
p.Asp351= Multiple submitters Inborn genetic diseases
p.Asp358= Multiple submitters Inborn genetic diseases
p.Asp365= Multiple submitters Inborn genetic diseases
p.Asp40= Multiple submitters Inborn genetic diseases
p.Asp499= Multiple submitters Inborn genetic diseases
p.Asp520= Multiple submitters Inborn genetic diseases
p.Asp551= Multiple submitters Inborn genetic diseases
p.Asp668= Multiple submitters Inborn genetic diseases
p.Asp709= Multiple submitters Inborn genetic diseases
p.Asp799= Multiple submitters Inborn genetic diseases
p.Asp849= Multiple submitters Inborn genetic diseases
p.Cys1376= Multiple submitters Inborn genetic diseases
p.Cys283= Multiple submitters Inborn genetic diseases
p.Cys835= Multiple submitters Inborn genetic diseases
p.Cys938= Multiple submitters Inborn genetic diseases
p.Gln1029= Multiple submitters Inborn genetic diseases
p.Gln1108= Multiple submitters
p.Gln1168= Multiple submitters Inborn genetic diseases
p.Gln1375= Multiple submitters Inborn genetic diseases
p.Gln1399= Multiple submitters Inborn genetic diseases
p.Gln1420= Multiple submitters Inborn genetic diseases
p.Gln1444= Multiple submitters Inborn genetic diseases
p.Gln1500= Multiple submitters Inborn genetic diseases
p.Gln317= Multiple submitters Inborn genetic diseases
p.Gln584= Multiple submitters Inborn genetic diseases
p.Gln598= Multiple submitters Inborn genetic diseases
p.Gln626= Multiple submitters Inborn genetic diseases
p.Gln789= Multiple submitters Inborn genetic diseases
p.Gln811= Multiple submitters Inborn genetic diseases
p.Gln855= Multiple submitters Inborn genetic diseases
p.Glu1062= Multiple submitters Inborn genetic diseases
p.Glu1174= Multiple submitters Inborn genetic diseases
p.Glu1176= Multiple submitters Inborn genetic diseases
p.Glu1289= Multiple submitters Inborn genetic diseases
p.Glu1356Gly Multiple submitters Inborn genetic diseases
p.Glu1490= Multiple submitters Inborn genetic diseases
p.Glu218= Multiple submitters Inborn genetic diseases
p.Glu433= Multiple submitters Inborn genetic diseases
p.Glu441= Multiple submitters Inborn genetic diseases
p.Glu52= Multiple submitters Inborn genetic diseases
p.Glu666= Multiple submitters Inborn genetic diseases
p.Glu680= Multiple submitters Inborn genetic diseases
p.Glu802= Multiple submitters Inborn genetic diseases
p.Glu861= Multiple submitters Inborn genetic diseases
p.Glu974= Multiple submitters Inborn genetic diseases
p.Gly1023= Multiple submitters Inborn genetic diseases
p.Gly1048= Multiple submitters Inborn genetic diseases
p.Gly1100= Multiple submitters Inborn genetic diseases
p.Gly1142= Multiple submitters Inborn genetic diseases
p.Gly1318= Multiple submitters Inborn genetic diseases
p.Gly1466= Multiple submitters Inborn genetic diseases
p.Gly1559= Multiple submitters Inborn genetic diseases
p.Gly1564= Multiple submitters Inborn genetic diseases
p.Gly1575= Multiple submitters Inborn genetic diseases
p.Gly249= Multiple submitters Inborn genetic diseases
p.Gly346= Multiple submitters Inborn genetic diseases
p.Gly400= Multiple submitters Inborn genetic diseases
p.Gly687= Multiple submitters Inborn genetic diseases
p.Gly743= Multiple submitters Inborn genetic diseases
p.Gly907= Multiple submitters Inborn genetic diseases
p.His1043= Multiple submitters Inborn genetic diseases
p.His1059= Multiple submitters Inborn genetic diseases
p.His1470= Multiple submitters Inborn genetic diseases
p.His1494= Multiple submitters Inborn genetic diseases
p.His244= Multiple submitters Inborn genetic diseases
p.His263= Multiple submitters Inborn genetic diseases
p.His32Leu Multiple submitters
p.His53= Multiple submitters Inborn genetic diseases
p.His61= Multiple submitters Inborn genetic diseases
p.His985= Multiple submitters Inborn genetic diseases
p.Ile1007= Multiple submitters Inborn genetic diseases
p.Ile1208= Multiple submitters Inborn genetic diseases
p.Ile1210= Multiple submitters Inborn genetic diseases
p.Ile1284= Multiple submitters Inborn genetic diseases
p.Ile1365Thr Multiple submitters Inborn genetic diseases
p.Ile1389= Multiple submitters Inborn genetic diseases
p.Ile1393= Multiple submitters Inborn genetic diseases
p.Ile28= Multiple submitters Inborn genetic diseases
p.Ile332= Multiple submitters Inborn genetic diseases
p.Ile448= Multiple submitters Inborn genetic diseases
p.Ile635= Multiple submitters Inborn genetic diseases
p.Ile718= Multiple submitters Inborn genetic diseases
p.Ile733= Multiple submitters Inborn genetic diseases
p.Ile872= Multiple submitters Inborn genetic diseases
p.Ile887= Multiple submitters Inborn genetic diseases
p.Leu1002= Multiple submitters Inborn genetic diseases
p.Leu1028= Multiple submitters Inborn genetic diseases
p.Leu1034= Multiple submitters Inborn genetic diseases
p.Leu1058= Multiple submitters Inborn genetic diseases
p.Leu1071= Multiple submitters Inborn genetic diseases
p.Leu1103= Multiple submitters Inborn genetic diseases
p.Leu1153= Multiple submitters Inborn genetic diseases
p.Leu1181= Multiple submitters Inborn genetic diseases
p.Leu1223= Multiple submitters Inborn genetic diseases
p.Leu1260= Multiple submitters Inborn genetic diseases
p.Leu1277= Multiple submitters Inborn genetic diseases
p.Leu1319= Multiple submitters Inborn genetic diseases
p.Leu1372= Multiple submitters Inborn genetic diseases
p.Leu1373= Multiple submitters Inborn genetic diseases
p.Leu1511= Multiple submitters Inborn genetic diseases
p.Leu1530= Multiple submitters Inborn genetic diseases
p.Leu1561= Multiple submitters Inborn genetic diseases
p.Leu159= Multiple submitters Inborn genetic diseases
p.Leu177= Multiple submitters Inborn genetic diseases
p.Leu293= Multiple submitters Inborn genetic diseases
p.Leu415= Multiple submitters Inborn genetic diseases
p.Leu440= Multiple submitters Inborn genetic diseases
p.Leu46= Multiple submitters Inborn genetic diseases
p.Leu5= Multiple submitters Inborn genetic diseases
p.Leu540= Multiple submitters Inborn genetic diseases
p.Leu544= Multiple submitters Inborn genetic diseases
p.Leu546= Multiple submitters Inborn genetic diseases
p.Leu590= Multiple submitters Inborn genetic diseases
p.Leu673= Multiple submitters Inborn genetic diseases
p.Leu74= Multiple submitters Inborn genetic diseases
p.Leu754= Multiple submitters Inborn genetic diseases
p.Leu763= Multiple submitters Inborn genetic diseases
p.Leu795= Multiple submitters Inborn genetic diseases
p.Leu797= Multiple submitters Inborn genetic diseases
p.Leu857= Multiple submitters Inborn genetic diseases
p.Leu987= Multiple submitters Inborn genetic diseases
p.Lys1247= Multiple submitters Inborn genetic diseases
p.Lys1385= Multiple submitters Inborn genetic diseases
p.Lys1465= Multiple submitters Inborn genetic diseases
p.Lys242= Multiple submitters Inborn genetic diseases
p.Lys31= Multiple submitters Inborn genetic diseases
p.Lys338= Multiple submitters Inborn genetic diseases
p.Lys386= Multiple submitters Inborn genetic diseases
p.Lys676= Multiple submitters Inborn genetic diseases
p.Lys72= Multiple submitters Inborn genetic diseases
p.Lys948= Multiple submitters Inborn genetic diseases
p.Lys959= Multiple submitters Inborn genetic diseases
p.Lys97= Multiple submitters Inborn genetic diseases
p.Phe1018= Multiple submitters Inborn genetic diseases
p.Phe1083= Multiple submitters Inborn genetic diseases
p.Phe1099= Multiple submitters Inborn genetic diseases
p.Phe1231= Multiple submitters Inborn genetic diseases
p.Phe1271= Multiple submitters Inborn genetic diseases
p.Phe1307= Multiple submitters Inborn genetic diseases
p.Phe1557= Multiple submitters Inborn genetic diseases
p.Phe1572= Multiple submitters Inborn genetic diseases
p.Phe672= Multiple submitters Inborn genetic diseases
p.Phe694= Multiple submitters Inborn genetic diseases
p.Phe758= Multiple submitters Inborn genetic diseases
p.Pro1183= Multiple submitters Inborn genetic diseases
p.Pro120= Multiple submitters Inborn genetic diseases
p.Pro1239= Multiple submitters Inborn genetic diseases
p.Pro125= Multiple submitters Inborn genetic diseases
p.Pro1255= Multiple submitters Inborn genetic diseases
p.Pro1441= Multiple submitters Inborn genetic diseases
p.Pro1555= Multiple submitters Inborn genetic diseases
p.Pro1581= Multiple submitters Inborn genetic diseases
p.Pro311= Multiple submitters Inborn genetic diseases
p.Pro510= Multiple submitters Inborn genetic diseases
p.Pro63= Multiple submitters Inborn genetic diseases
p.Pro633= Multiple submitters Inborn genetic diseases
p.Ser1074= Multiple submitters Inborn genetic diseases
p.Ser110= Multiple submitters Inborn genetic diseases
p.Ser1185= Multiple submitters Inborn genetic diseases
p.Ser1267= Multiple submitters Inborn genetic diseases
p.Ser129= Multiple submitters Inborn genetic diseases
p.Ser1510= Multiple submitters Inborn genetic diseases
p.Ser1577= Multiple submitters Inborn genetic diseases
p.Ser224= Multiple submitters Inborn genetic diseases
p.Ser348= Multiple submitters Inborn genetic diseases
p.Ser638= Multiple submitters Inborn genetic diseases
p.Ser697= Multiple submitters Inborn genetic diseases
p.Ser698= Multiple submitters Inborn genetic diseases
p.Ser82= Multiple submitters Inborn genetic diseases
p.Ser934= Multiple submitters Inborn genetic diseases
p.Thr1020= Multiple submitters Inborn genetic diseases
p.Thr1191= Multiple submitters Inborn genetic diseases
p.Thr1207= Multiple submitters Inborn genetic diseases
p.Thr1258= Multiple submitters Inborn genetic diseases
p.Thr130= Multiple submitters Inborn genetic diseases
p.Thr1361= Multiple submitters Inborn genetic diseases
p.Thr1377= Multiple submitters Inborn genetic diseases
p.Thr1550= Multiple submitters Inborn genetic diseases
p.Thr160= Multiple submitters Inborn genetic diseases
p.Thr203= Multiple submitters Inborn genetic diseases
p.Thr256= Multiple submitters Inborn genetic diseases
p.Thr298= Multiple submitters Inborn genetic diseases
p.Thr353= Multiple submitters Inborn genetic diseases
p.Thr37= Multiple submitters Inborn genetic diseases
p.Thr425= Multiple submitters Inborn genetic diseases
p.Thr474= Multiple submitters Inborn genetic diseases
p.Thr479= Multiple submitters Inborn genetic diseases
p.Thr639= Multiple submitters Inborn genetic diseases
p.Thr728= Multiple submitters Inborn genetic diseases
p.Thr745= Multiple submitters Inborn genetic diseases
p.Thr85= Multiple submitters Inborn genetic diseases
p.Thr912= Multiple submitters Inborn genetic diseases
p.Tyr1182= Multiple submitters Inborn genetic diseases
p.Tyr1189= Multiple submitters Inborn genetic diseases
p.Tyr1227= Multiple submitters Inborn genetic diseases
p.Tyr1253= Multiple submitters Inborn genetic diseases
p.Tyr1274= Multiple submitters Inborn genetic diseases
p.Tyr1303= Multiple submitters Inborn genetic diseases
p.Tyr1426= Multiple submitters Inborn genetic diseases
p.Tyr149= Multiple submitters Inborn genetic diseases
p.Tyr1543= Multiple submitters Inborn genetic diseases
p.Tyr1573= Multiple submitters Inborn genetic diseases
p.Tyr410= Multiple submitters Inborn genetic diseases
p.Tyr469= Multiple submitters Inborn genetic diseases
p.Tyr505= Multiple submitters Inborn genetic diseases
p.Tyr711= Multiple submitters Inborn genetic diseases
p.Tyr783= Multiple submitters Inborn genetic diseases
p.Tyr791= Multiple submitters Inborn genetic diseases
p.Tyr808= Multiple submitters Inborn genetic diseases
p.Tyr812= Multiple submitters Inborn genetic diseases
p.Tyr896= Multiple submitters Inborn genetic diseases
p.Tyr927= Multiple submitters Inborn genetic diseases
p.Tyr963= Multiple submitters Inborn genetic diseases
p.Val101= Multiple submitters Inborn genetic diseases
p.Val1067= Multiple submitters Inborn genetic diseases
p.Val1203= Multiple submitters Inborn genetic diseases
p.Val1232= Multiple submitters Inborn genetic diseases
p.Val1570= Multiple submitters Inborn genetic diseases
p.Val162= Multiple submitters Inborn genetic diseases
p.Val343= Multiple submitters Inborn genetic diseases
p.Val451= Multiple submitters Inborn genetic diseases
p.Val452= Multiple submitters Inborn genetic diseases
p.Val468= Multiple submitters Inborn genetic diseases
p.Val55= Multiple submitters Inborn genetic diseases
p.Val706= Multiple submitters Inborn genetic diseases
c.*3G>A Single submitter
p.Ala1066= Single submitter Inborn genetic diseases
p.Ala1069= Single submitter Inborn genetic diseases
p.Ala1106= Single submitter Inborn genetic diseases
p.Ala1195= Single submitter
p.Ala1435= Single submitter
p.Ala1459= Single submitter
p.Ala1459Ser Single submitter Inborn genetic diseases
p.Ala1479= Single submitter
p.Ala1534= Single submitter Inborn genetic diseases
p.Ala199= Single submitter Inborn genetic diseases
p.Ala206= Single submitter Inborn genetic diseases
p.Ala259= Single submitter Inborn genetic diseases
p.Ala361= Single submitter
p.Ala370= Single submitter
p.Ala376Thr Single submitter
p.Ala438= Single submitter
p.Ala64= Single submitter Inborn genetic diseases
p.Ala651= Single submitter
p.Ala677= Single submitter Inborn genetic diseases
p.Ala716= Single submitter
p.Ala722= Single submitter Inborn genetic diseases
p.Ala78= Single submitter Inborn genetic diseases
p.Ala785= Single submitter
p.Ala819= Single submitter
p.Ala852= Single submitter Inborn genetic diseases
p.Ala949= Single submitter
p.Ala949Pro Single submitter
p.Ala95= Single submitter Inborn genetic diseases
p.Arg106= Single submitter Inborn genetic diseases
p.Arg106His Single submitter
p.Arg106Ser Single submitter Inborn genetic diseases

Uncertain significance 1790

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

p.Ala1057Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1066Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1069Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1082Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala1087Val Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Ala1102Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala1195Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala123Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1290Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1297Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1391Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1457Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1457Val Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Ala1583Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala376Val Multiple submitters Inborn genetic diseases ⚠
p.Ala382Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala562Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala592Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala716Thr Multiple submitters SAMD9-related disorder ⚠
p.Ala817Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala845Val Multiple submitters Inborn genetic diseases ⚠
p.Ala922Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala922Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala95Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg1040Gly Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Arg1040His Multiple submitters Inborn genetic diseases ⚠
p.Arg1077Gln Multiple submitters ⚠
p.Arg1188Gln Multiple submitters ⚠
p.Arg1188Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1226Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1334Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg1403Ser Multiple submitters SAMD9-related disorder ⚠
p.Arg1416Ter Multiple submitters
p.Arg1473His Multiple submitters ⚠
p.Arg1488Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg153Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg174Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg221Ter Multiple submitters
p.Arg230Cys Multiple submitters Inborn genetic diseases
p.Arg230His Multiple submitters ⚠
p.Arg285Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg285Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg285Ter Multiple submitters
p.Arg344Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg344Ter Multiple submitters normophosphatemic familial tumoral calcinosis
p.Arg373Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg459Ter Multiple submitters
p.Arg515Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg685Ter Multiple submitters MIRAGE syndrome
p.Arg902Gln Multiple submitters SAMD9-related disorder ⚠
p.Asn1064Lys Multiple submitters MIRAGE syndrome ⚠
p.Asn1064Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1079His Multiple submitters Inborn genetic diseases ⚠
p.Asn10fs Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Asn1243fs Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Asn1244Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1283Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1315Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1462Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn1537Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1546Ser Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Asn189Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn202Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn254Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn265Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn269Asp Multiple submitters ⚠
p.Asn407Ser Multiple submitters SAMD9-related disorder ⚠
p.Asn418Asp Multiple submitters MIRAGE syndrome ⚠
p.Asn418Ser Multiple submitters MIRAGE syndrome ⚠
p.Asn615Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn670fs Multiple submitters normophosphatemic familial tumoral calcinosis
p.Asn765Lys Multiple submitters
p.Asn893Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn925His Multiple submitters Inborn genetic diseases ⚠
p.Asp1010Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp1061Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1061His Multiple submitters ⚠
p.Asp1121Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1121Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp1172Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1237Ala Multiple submitters SAMD9-related disorder ⚠
p.Asp1241Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1241His Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Asp1272Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1272His Multiple submitters Inborn genetic diseases ⚠
p.Asp1272Ter Multiple submitters SAMD9-related disorder
p.Asp1342Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp1357Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp148His Multiple submitters Inborn genetic diseases ⚠
p.Asp1499Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1499fs Multiple submitters
p.Asp1499Gly Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.Asp1516Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp241fs Multiple submitters
p.Asp29Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp29Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp319Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp345Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp351Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp365Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp365Val Multiple submitters Inborn genetic diseases ⚠
p.Asp406Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp40Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp423Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp423Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp443Val Multiple submitters ⚠
p.Asp56Ala Multiple submitters ⚠
p.Asp588His Multiple submitters Inborn genetic diseases ⚠
p.Asp588Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp599Val Multiple submitters Inborn genetic diseases ⚠
p.Asp668Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp709Tyr Multiple submitters Inborn genetic diseases
p.Asp799His Multiple submitters Inborn genetic diseases ⚠
p.Asp881Asn Multiple submitters normophosphatemic familial tumoral calcinosis ⚠
p.Cys283Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys283Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys494Ter Multiple submitters
p.Cys577Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys605Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys656Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys721Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys741Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys760Arg Multiple submitters ⚠
p.Cys760Trp Multiple submitters Inborn genetic diseases ⚠
p.Cys835Arg Multiple submitters ⚠
p.Cys979Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln103Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1086Pro Multiple submitters ⚠
p.Gln1108Ter Multiple submitters MIRAGE syndrome
p.Gln112Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1168Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1198Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln1314Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1314Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln1328Ter Multiple submitters
p.Gln1444Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln1445del Multiple submitters normophosphatemic familial tumoral calcinosis
p.Gln1560Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln182Ter Multiple submitters
p.Gln279fs Multiple submitters
p.Gln30Arg Multiple submitters SAMD9-related disorder ⚠
p.Gln30Ter Multiple submitters Inborn genetic diseases
p.Gln317Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln39Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln472Ter Multiple submitters
p.Gln565Ter Multiple submitters
p.Gln811Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln839Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln99Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu1014Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1044Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1165Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1174Ter Multiple submitters
p.Glu1179Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1202Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1245Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1288Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1312Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1349Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1417Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu144Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu144Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1520Ter Multiple submitters normophosphatemic familial tumoral calcinosis
p.Glu152Gly Multiple submitters ⚠
p.Glu1587Val Multiple submitters Inborn genetic diseases ⚠
p.Glu17Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu334fs Multiple submitters
p.Glu457fs Multiple submitters
p.Glu52fs Multiple submitters
p.Glu558Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu600Val Multiple submitters Inborn genetic diseases ⚠
p.Glu613Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu653Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu681Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu68Lys Multiple submitters ⚠
p.Glu715Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu753Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu775Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu80Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu861fs Multiple submitters normophosphatemic familial tumoral calcinosis
p.Glu861Val Multiple submitters Inborn genetic diseases ⚠
p.Glu871Ter Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2
p.Gly1045Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1045Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1048Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1124Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly116Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly116Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly1196Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1196Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1196Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1199Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1204Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly1234Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly1240Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1484Arg Multiple submitters SAMD9-related disorder ⚠
p.Gly1544Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1544Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly1580Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly186Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly233Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly249Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly346Glu Multiple submitters Inborn genetic diseases
p.Gly496Asp Multiple submitters ⚠
p.Gly537Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly58Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly740Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly89Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly907Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly945Arg Multiple submitters Inborn genetic diseases ⚠
p.His1043Arg Multiple submitters Inborn genetic diseases ⚠
p.His1059Tyr Multiple submitters Inborn genetic diseases ⚠
p.His1076Arg Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.His195Arg Multiple submitters Inborn genetic diseases ⚠
p.His236Asp Multiple submitters Inborn genetic diseases ⚠
p.His244Arg Multiple submitters ⚠
p.His244Leu Multiple submitters Inborn genetic diseases ⚠
p.His244Tyr Multiple submitters Inborn genetic diseases ⚠
p.His263Arg Multiple submitters Inborn genetic diseases ⚠
p.His26Arg Multiple submitters Inborn genetic diseases ⚠
p.His32fs Multiple submitters normophosphatemic familial tumoral calcinosis
p.His487Arg Multiple submitters Inborn genetic diseases ⚠
p.His530Pro Multiple submitters Inborn genetic diseases ⚠
p.His530Tyr Multiple submitters ⚠
p.His53Leu Multiple submitters SAMD9-related disorder ⚠
p.His53Tyr Multiple submitters Inborn genetic diseases ⚠
p.His581Pro Multiple submitters monosomy 7 myelodysplasia and leukemia syndrome 2 ⚠
p.His581Tyr Multiple submitters Inborn genetic diseases ⚠
p.His61Gln Multiple submitters Inborn genetic diseases ⚠
p.His734Gln Multiple submitters Inborn genetic diseases ⚠
p.His737Arg Multiple submitters Inborn genetic diseases ⚠
p.His737Asn Multiple submitters ⚠
p.His985fs Multiple submitters
p.Ile1135Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1201Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1214Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1238Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile1389Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1389Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1393Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1549Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile1549Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1551Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1553Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1578Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile157Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile157Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1586Thr Multiple submitters ⚠
p.Ile191Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile194Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile247Thr Multiple submitters ⚠
p.Ile247Val Multiple submitters Inborn genetic diseases ⚠
p.Ile268Thr Multiple submitters ⚠
p.Ile28Thr Multiple submitters normophosphatemic familial tumoral calcinosis ⚠
p.Ile28Val Multiple submitters Inborn genetic diseases ⚠
p.Ile305Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile310Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile323Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile352Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile414Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile448Val Multiple submitters Inborn genetic diseases ⚠
p.Ile525Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile557Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile557Val Multiple submitters Inborn genetic diseases ⚠
p.Ile573Met Multiple submitters Inborn genetic diseases ⚠
p.Ile595Val Multiple submitters ⚠
p.Ile618Val Multiple submitters Inborn genetic diseases ⚠
p.Ile635Val Multiple submitters Inborn genetic diseases ⚠
p.Ile654Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile65Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile67Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile67Met Multiple submitters Inborn genetic diseases ⚠
p.Ile67Thr Multiple submitters Inborn genetic diseases
p.Ile718Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile733Thr Multiple submitters normophosphatemic familial tumoral calcinosis ⚠
p.Ile79Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile79Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile814Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile818Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile897Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile897Val Multiple submitters Inborn genetic diseases ⚠
p.Ile944Thr Multiple submitters SAMD9-related disorder ⚠
p.Leu1103Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1152Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1248Ter Multiple submitters
p.Leu1250Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1319Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1347Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1415Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1424Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu1424Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1526Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu181Arg Multiple submitters MIRAGE syndrome ⚠
p.Leu190Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu260Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu369Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu36Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu483Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu500Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu528Pro Multiple submitters Inborn genetic diseases ⚠