HCFC1 — 1484 ClinVar variants

All ClinVar germline HCFC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 428 flagged for review →

8 Pathogenic · 6 Likely pathogenic · 63 Conflicting · 180 Benign · 95 Benign/Likely benign · 721 Likely benign · 411 Uncertain significance

Full HCFC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 428

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 5

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

HCFC1 p.Pro1683Arg Pathogenic Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1365Ile Likely pathogenic Single submitter
HCFC1-related disorders
HCFC1 p.Ala73Thr Pathogenic No assertion criteria
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser1902Asn Likely pathogenic No assertion criteria
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser225Asn Pathogenic No assertion criteria
methylmalonic acidemia with homocystinuria, type cblX

Predictors agree, ClinVar conflicts 34

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

HCFC1 p.Ala1152Gly Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Ala1230Val Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Ala1406Val Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1705Thr Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1756Val Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala477Thr Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Arg1199Gln Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Arg1253His Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Arg1385Gly Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn1097Thr Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gln1165His Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Gly1202Arg Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Gly1563Ser Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Gly1650Ser Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Lys1217Arg Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Lys1808Arg Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1351His Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser1188Leu Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Ser1282Leu Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser3Leu Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1087Ser Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1119Ile Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Thr1540Ile Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1578Ile Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Thr1661Ala Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Thr405Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr586Ala Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Thr991Ser Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val1247Met Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Val1476Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val1547Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val1662Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val250Met Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Val954Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX

Predictors lean, ClinVar uncertain 298

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 298

HCFC1 p.Ala1129Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1236Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1526Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1597Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1597Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1763Thr Uncertain significance Multiple submitters
HCFC1 p.Ala452Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala744Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1133Gln Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1137Trp Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1169His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1204His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1244His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1511His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg344His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn1439His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn1465Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Asn1731Ser Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asp1227Glu Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Gln1414His Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Gln1579Glu Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Gly1553Glu Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Gly1677Asp Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly1843Ala Uncertain significance Multiple submitters
HCFC1 p.Ile1225Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ile792Met Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Met2018Val Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Pro1492Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1494Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1500Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1576Gln Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1993Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser2030Cys Uncertain significance Multiple submitters
HCFC1 p.Ser411Phe Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Ser507Asn Uncertain significance Multiple submitters
HCFC1 p.Ser539Asn Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Ser597Ala Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1459Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1525Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr466Ala Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Thr937Met Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val1547Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val1767Gly Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Val1845Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val483Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val890Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1035Gly Uncertain significance Single submitter
HCFC1 p.Ala1091Thr Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1141Gly Uncertain significance Single submitter
HCFC1 p.Ala1155Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1173Glu Uncertain significance Single submitter
HCFC1 p.Ala1241Ser Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1277Ser Uncertain significance Single submitter
HCFC1 p.Ala1277Thr Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1283Pro Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1333Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1336Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1375Thr Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1409Gly Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1433Thr Uncertain significance Single submitter
HCFC1 p.Ala1449Pro Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1532Thr Uncertain significance Single submitter
HCFC1 p.Ala1537Thr Uncertain significance Single submitter
HCFC1 p.Ala1679Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1705Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala1737Gly Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1770Thr Uncertain significance Single submitter
HCFC1 p.Ala1773Val Uncertain significance Single submitter
HCFC1 p.Ala1778Thr Uncertain significance Single submitter
HCFC1 p.Ala1928Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala1978Thr Uncertain significance Single submitter
HCFC1 p.Ala2032Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala368Ser Uncertain significance Single submitter
HCFC1 p.Ala40Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala429Thr Uncertain significance Single submitter
HCFC1 p.Ala454Pro Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala454Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala477Ser Uncertain significance Single submitter
HCFC1 p.Ala494Pro Uncertain significance Single submitter
HCFC1 p.Ala512Ser Uncertain significance Single submitter
HCFC1 p.Ala581Thr Uncertain significance Single submitter
HCFC1 p.Ala696Thr Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala728Ser Uncertain significance Single submitter
HCFC1 p.Ala783Thr Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala838Thr Uncertain significance Single submitter
HCFC1 p.Ala895Val Uncertain significance Single submitter
HCFC1 p.Ala897Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1148Gln Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg117Gln Uncertain significance Single submitter
HCFC1 p.Arg117Trp Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Arg1232Cys Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Arg1244Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1355Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1355His Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg1482Gln Uncertain significance Single submitter
HCFC1 p.Arg1511Cys Uncertain significance Single submitter
HCFC1 p.Arg1517Leu Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Arg1865Cys Uncertain significance Single submitter
HCFC1 p.Arg18Gly Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Arg1982Cys Uncertain significance Single submitter
HCFC1 p.Arg320Cys Uncertain significance Single submitter
intellectual disability
HCFC1 p.Arg344Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg374Cys Uncertain significance Single submitter
HCFC1 p.Arg374His Uncertain significance Single submitter
HCFC1 p.Arg37Cys Uncertain significance Single submitter
HCFC1 p.Arg847Cys Uncertain significance Single submitter
HCFC1 p.Asn1068Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn1118Ser Uncertain significance Single submitter
HCFC1 p.Asn1339His Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Asn1339Thr Uncertain significance Single submitter
HCFC1 p.Asn1724Ser Uncertain significance Single submitter
HCFC1 p.Asn1759Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn213Asp Uncertain significance Single submitter
HCFC1 p.Asn213Ser Uncertain significance Single submitter
HCFC1 p.Asn349Lys Uncertain significance Single submitter
HCFC1 p.Asn378Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asp1003Glu Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Asp1445Gly Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asp1462Asn Uncertain significance Single submitter
HCFC1 p.Asp161Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asp1725Asn Uncertain significance Single submitter
HCFC1 p.Asp1847Asn Uncertain significance Single submitter
HCFC1 p.Asp998Asn Uncertain significance Single submitter
HCFC1 p.Cys1080Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Cys1139Arg Uncertain significance Single submitter
HCFC1 p.Cys1280Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Cys1289Tyr Uncertain significance Single submitter
HCFC1 p.Cys1322Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Cys353Trp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gln1167His Uncertain significance Single submitter
HCFC1 p.Gln1170His Uncertain significance Single submitter
HCFC1 p.Gln1559Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Gln1579His Uncertain significance Single submitter
HCFC1 p.Gln1640Arg Uncertain significance Single submitter
HCFC1 p.Gln1664Glu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1113Gln Uncertain significance Single submitter
HCFC1 p.Glu1251Gly Uncertain significance Single submitter
HCFC1 p.Glu1346Lys Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Glu1533Gly Uncertain significance Single submitter
HCFC1 p.Glu1657Lys Uncertain significance Single submitter
HCFC1 p.Glu1922Gln Uncertain significance Single submitter
HCFC1 p.Gly1184Arg Uncertain significance Single submitter
HCFC1 p.Gly1248Asp Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Gly1250Ala Uncertain significance Single submitter
HCFC1 p.Gly1264Ala Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly131Arg Uncertain significance Single submitter
HCFC1 p.Gly1341Ala Uncertain significance Single submitter
HCFC1 p.Gly1347Ser Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Gly1390Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly1404Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX

Predictors split 91

The independent predictors disagree with each other — read with care.

HCFC1 p.Ala1637Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1113Lys Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly1115Val Uncertain significance Multiple submitters
Inborn genetic diseases
HCFC1 p.Gly876Ser Benign/Likely benign Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Met311Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1427Met Uncertain significance Multiple submitters
HCFC1 p.Thr848Ala Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr950Ile Uncertain significance Multiple submitters
intellectual disability
HCFC1 p.Ala1785Val Uncertain significance Single submitter
HCFC1 p.Ala205Gly Uncertain significance Single submitter
HCFC1 p.Ala251Val Uncertain significance Single submitter
HCFC1 p.Ala327Ser Uncertain significance Single submitter
HCFC1 p.Ala329Thr Uncertain significance Single submitter
HCFC1 p.Ala548Thr Uncertain significance Single submitter
HCFC1 p.Ala551Thr Uncertain significance Single submitter
HCFC1 p.Ala73Val Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ala897Glu Uncertain significance Single submitter
HCFC1 p.Ala907Val Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ala983Pro Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg2016Trp Pathogenic Single submitter
HCFC1 p.Arg630Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Arg847His Uncertain significance Single submitter
HCFC1 p.Asn108Ser Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn1106Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Asn67Ser Uncertain significance Single submitter
HCFC1 p.Cys1075Tyr Uncertain significance Single submitter
HCFC1 p.Cys1104Phe Uncertain significance Single submitter
HCFC1 p.Cys1294Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Cys1872Tyr Uncertain significance Single submitter
HCFC1 p.Gln1636Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Gln1776His Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Gln956His Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1084Lys Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1298Lys Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1326Lys Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu1594Lys Uncertain significance Single submitter
HCFC1 p.Glu1610Lys Uncertain significance Single submitter
HCFC1 p.Glu1789Lys Uncertain significance Single submitter
HCFC1 p.Glu210Lys Uncertain significance Single submitter
HCFC1 p.Glu360Asp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Glu988Gln Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly1086Asp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly264Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly444Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly618Arg Uncertain significance Single submitter
HCFC1 p.Gly852Val Uncertain significance Single submitter
HCFC1 p.Gly898Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Gly899Asp Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Gly968Glu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Leu1587Phe Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Leu610Val Uncertain significance Single submitter
HCFC1 p.Leu982Pro Uncertain significance Single submitter
HCFC1 p.Pro1078Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro1320Leu Uncertain significance Single submitter
HCFC1 p.Pro1421Leu Uncertain significance Single submitter
HCFC1 p.Pro180Leu Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Pro1831Ser Likely pathogenic Single submitter
HCFC1 p.Pro528Leu Uncertain significance Single submitter
X-linked intellectual disability
HCFC1 p.Pro605Ala Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Pro839Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser1076Leu Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser107Asn Uncertain significance Single submitter
HCFC1 p.Ser1105Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser1290Pro Uncertain significance Single submitter
HCFC1 p.Ser1364Tyr Uncertain significance Single submitter
HCFC1 p.Ser141Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Ser1914Phe Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Ser569Ile Uncertain significance Single submitter
HCFC1 p.Thr1085Met Uncertain significance Single submitter
HCFC1 p.Thr1111Ile Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Thr1114Met Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1119Ala Uncertain significance Single submitter
HCFC1 p.Thr1176Ile Uncertain significance Single submitter
HCFC1 p.Thr1302Ile Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1327Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Thr1327Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1332Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Thr1334Ile Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Thr1826Ile Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Thr1975Pro Uncertain significance Single submitter
HCFC1 p.Thr241Met Conflicting Single submitter
Inborn genetic diseases
HCFC1 p.Thr642Ile Uncertain significance Single submitter
HCFC1 p.Thr689Ile Uncertain significance Single submitter
HCFC1 p.Thr738Ile Uncertain significance Single submitter
HCFC1 p.Thr766Ile Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Thr881Arg Uncertain significance Single submitter
Inborn genetic diseases
HCFC1 p.Tyr174His Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblX
HCFC1 p.Val184Glu Uncertain significance Single submitter
HCFC1 p.Val486Leu Uncertain significance Single submitter
X-linked intellectual disability
HCFC1 p.Val635Leu Uncertain significance Single submitter
HCFC1 p.Val641Met Uncertain significance Single submitter

All HCFC1 variants

Pathogenic 8

p.Ala115Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Arg2016Trp Single submitter ⚠
p.Gly1954Arg Single submitter Inborn genetic diseases
p.Pro1683Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr457fs Single submitter Inborn genetic diseases
c.-970T>C No assertion criteria methylmalonic acidemia with homocystinuria, type cblX
p.Ala73Thr No assertion criteria methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ser225Asn No assertion criteria methylmalonic acidemia with homocystinuria, type cblX ⚠

Likely pathogenic 6

c.1781_1803+3delinsCA Single submitter
p.Arg33Cys Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1831Ser Single submitter ⚠
p.Pro72Thr Single submitter
p.Thr1365Ile Single submitter HCFC1-related disorders ⚠
p.Ser1902Asn No assertion criteria methylmalonic acidemia with homocystinuria, type cblX ⚠

Conflicting classifications of pathogenicity 63

c.1084+8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-9C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-23CTC[2] Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-3C>T Single submitter
c.712+6C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.905-3C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1152Gly Single submitter Inborn genetic diseases ⚠
p.Ala1230= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1230Val Single submitter Inborn genetic diseases ⚠
p.Ala1406Val Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1705Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1756Val Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala477Thr Single submitter Inborn genetic diseases ⚠
p.Ala73Val Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala897= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Arg1199Gln Single submitter Inborn genetic diseases ⚠
p.Arg1253His Single submitter Inborn genetic diseases ⚠
p.Arg1385Gly Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn1097Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn2014= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1042= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1165His Single submitter Inborn genetic diseases ⚠
p.Gln1776His Single submitter Inborn genetic diseases ⚠
p.Glu1298Lys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Glu1326Lys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1202Arg Single submitter Inborn genetic diseases ⚠
p.Gly1563Ser Single submitter Inborn genetic diseases ⚠
p.Gly1650Ser Single submitter Inborn genetic diseases ⚠
p.Ile821= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Lys1163= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Lys1217Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Lys1808Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1351His Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1492Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro605Ala Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ser1164= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1188Leu Single submitter Inborn genetic diseases ⚠
p.Ser1282= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1282Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ser1522= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1963= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser3Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1087Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1114Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1119Ile Single submitter Inborn genetic diseases ⚠
p.Thr1540Ile Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1578Ile Single submitter Inborn genetic diseases ⚠
p.Thr1649= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1661Ala Single submitter Inborn genetic diseases ⚠
p.Thr1909Ser Single submitter Inborn genetic diseases
p.Thr241Met Single submitter Inborn genetic diseases ⚠
p.Thr313= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr405Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr586Ala Single submitter Inborn genetic diseases ⚠
p.Thr991Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Tyr400= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val1247Met Single submitter Inborn genetic diseases ⚠
p.Val1476Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val1547Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val1662Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val250Met Single submitter Inborn genetic diseases ⚠
p.Val328= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val954Met Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠

Benign 180

c.1085-12G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1085-22C>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1445-14C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1445-41G>A Multiple submitters
c.1605+20G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1606-260G>A Multiple submitters
c.1804-145G>A Multiple submitters
c.2029-49C>T Multiple submitters
c.2635+22C>T Multiple submitters
c.2856+74C>T Multiple submitters
c.342+116T>C Multiple submitters
c.4333+91C>T Multiple submitters
c.5261-41G>A Multiple submitters
c.5380-38T>G Multiple submitters
c.5704-42C>T Multiple submitters
c.712+69G>A Multiple submitters
c.713-101C>G Multiple submitters
c.713-13C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.*293C>T Multiple submitters
p.Ala1395= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1867= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Cys1953= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Gly1190Ser Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu1514= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu1830= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu962= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1515= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro947= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser794= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr761= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1084+17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1605+193C>T Single submitter
c.1803+13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2028+18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2497-9G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2856+266G>A Single submitter
c.2856+304C>T Single submitter
c.2856+7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-14G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.342+11C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.343-37C>T Single submitter
c.4334-10G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+138C>T Single submitter
c.4497+16del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+304G>A Single submitter
c.4498-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.503+98C>T Single submitter
c.5260+16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-33A>C Single submitter
c.5261-5C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5379+20G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-20G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-21C>T Single submitter
c.5517+20G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5703+18del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6004+14G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-278C>T Single submitter
c.6068+20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6069-5C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6069-8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-12G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.797+247T>C Single submitter
p.1090TAT[1] Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1173= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1173Val Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1310= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1532= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1546Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1562= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1632= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1645= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1679= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1777Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala2032= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala368= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala434= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala452= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala485= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala521= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala644= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala701= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala822= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala940= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala992= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Arg117= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Asn1118= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Asn130= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Asn331= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Asp280= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Asp90= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Cys1080= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Cys1109= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Cys1258= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Cys1895= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Cys326= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1512Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1539= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1706= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln1850= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln688= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln959= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Glu1259Lys Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Glu307= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1161= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1311= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1404= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1495= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1553= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1873= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly896= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly91= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly99= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.His1021= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.His1297= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ile1466= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ile175= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu1407= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu1543= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu1851= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu1908= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu235= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Leu549= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Lys1989= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Lys611= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Phe1048= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Phe87= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1320= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1345= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1378= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1447= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1492= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1577del Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1943= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro590= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro691= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro839= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro909= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1076= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser116= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1188= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1222= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1308= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1372= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1398= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser143= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1463= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1468= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1490= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1557= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser1580= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser259= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser471= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ser685= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1239= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1284= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1327= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1329= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1381Ile Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1386= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1432= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1473= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1473Met Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1475= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1750Met Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr1885= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr446= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr459= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr466= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr556= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr627= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr662= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr844= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Thr861= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val1373Met Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val195= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val250= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val523= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Val88= Single submitter methylmalonic acidemia with homocystinuria, type cblX

Benign/Likely benign 95

c.1085-16C>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1606-13G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1804-18C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.2134-20C>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.4497+4A>G Multiple submitters Inborn genetic diseases
c.4942+11G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.4943-11C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.503+14C>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5261-17A>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6004+14G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6005-12C>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6005-12C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6005-18C>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6069-20T>C Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1189= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1240Thr Multiple submitters Inborn genetic diseases
p.Ala1546= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1665= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1720= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1984= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala550= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala572= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala864= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala864Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala868= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala895= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala933= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala992Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala997= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Arg1253Cys Multiple submitters Inborn genetic diseases
p.Arg1986= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asn1339= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asn1734Ser Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asn1759Ser Multiple submitters Inborn genetic diseases
p.Asn1968= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asp1379Asn Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asp1839= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Glu1542= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Gly876Ser Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.His1425= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ile1983= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ile798= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ile929= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu170= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu1736= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu500= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Met1806Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1321= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1356= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1446= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1575= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1766= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1801del Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1832= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro520= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro859= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1164Pro Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1205= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1245Cys Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1265= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1265Leu Multiple submitters genetic developmental and epileptic encephalopathy
p.Ser1451= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1722= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1917= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1956= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser623= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser863= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1090= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1168= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr127Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1335= Multiple submitters Inborn genetic diseases
p.Thr1342= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1342Met Multiple submitters Inborn genetic diseases
p.Thr1479= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1481Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1661= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1739= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr239= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr377= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr460Ala Multiple submitters Inborn genetic diseases
p.Thr703= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr765= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr771= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr784= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr958Ala Multiple submitters autosomal recessive disease
p.Thr964= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Tyr169= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1064= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1071Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1127= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1285Met Multiple submitters Inborn genetic diseases
p.Val1387Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1399Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1566Met Multiple submitters Inborn genetic diseases
p.Val373= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX

Likely benign 721

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

c.1084+18G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1605+16T>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1606-14C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.193+16G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.2029-17C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.2353+16G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.2353+22T>C Multiple submitters
c.2636-16G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.2856+15G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.4333+11G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.4497+18C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.4942+9C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.503+10G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.504-5G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5260+7G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5379+7C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5380-19C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5517+16T>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.5703+14T>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.6004+13C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.797+9C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.904+10C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.904+13C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.*50G>A Multiple submitters
p.Ala1155= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1212= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1240Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1394= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1406= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1637= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1692= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala40= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala434Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala812= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Arg1232His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Arg1415= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asn63= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Asp341= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Cys1289Trp Multiple submitters Inborn genetic diseases
p.Gln371= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Gly1039= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Gly1347= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.His1083= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.His1325= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.His1431= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.His825= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ile1788= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ile576= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu1377Phe Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Leu176= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1195= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1201= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1252= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1401= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro1903= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro484= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro715= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro763= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Pro79= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1125= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser1924= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ser563= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1085= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1093= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1114= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1301= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1381Ala Multiple submitters Inborn genetic diseases
p.Thr1405= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1486= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1525= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1627= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr1743= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr209= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr515= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr574= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Thr881= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Tyr111= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Tyr221= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val417= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val46= Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.1084+18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1084+20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1084+7C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1084+9G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-12G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-12G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-15T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-17A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1085-6C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1444+10G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1444+14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1444+18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-11T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-17G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-18G>T Single submitter
c.1445-20C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-7T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-8C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1445-8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1605+106C>A Single submitter
c.1605+11G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1605+11G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1605+18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1606-11G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1606-13G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1606-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1606-16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1606-17G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1803+13del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1803+15G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1803+6C>T Single submitter
c.1803+7G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1804-14T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1804-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.1804-9C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.193+12G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.193+15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.193+15dup Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.193+185G>C Single submitter
c.193+19G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.193+7G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.194-19G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.194-19G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.194-20T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2028+17G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2028+20A>G Single submitter
c.2029-12C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-12del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-16A>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2133+10C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2133+11dup Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2133+20A>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2133+68T>C Single submitter
c.2133+7T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2134-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2134-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2134-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2134-9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2353+15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2353+17A>G Single submitter
c.2353+19A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2353+20T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2354-10_2354-9del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2354-14A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2354-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2354-16C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2354-20G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+12C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+14A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+20C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2496+42C>T Single submitter
c.2496+7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2497-16T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2497-17_2497-16del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2635+10C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2635+12T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2635+15G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2635+9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-10T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-15C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-16G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-18T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-6C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2636-7C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2856+17G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2856+8A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-13_2857-12insTCA Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-14G>T Single submitter
c.2857-15C>T Single submitter
c.2857-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2857-8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.342+9G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.343-10G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.343-7T>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.343-8T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4333+16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4333+9A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-10_4334-9insGCC Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-11C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-13G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-16C>G Single submitter
c.4334-16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-18_4334-8dup Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4334-20C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+16G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+19G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4497+9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4498-12G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4498-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4498-6C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4498-98C>T Single submitter
c.4942+17C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4942+17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4942+20T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4942+20T>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4942+7G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4942+8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-11C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-18C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.4943-20T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.503+18T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.503+3G>A Single submitter
c.503+8T>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.504-13C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.504-16G>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.504-9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5260+13G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5260+17G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5260+17G>C Single submitter
c.5261-12_5261-10del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-12C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-4C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-8C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5261-9_5261-6del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5379+10del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5379+15T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-13T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-15G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5380-8T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5517+10C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5518-10C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5518-18C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5518-18C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5703+11C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5703+13G>C Single submitter
c.5703+19T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5703+70dup Single submitter
c.5704-10T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-11C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-11C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-14C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-15C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.5704-20_5704-18del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6004+10C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6004+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-11G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-13C>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-16C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-5T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6005-6T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+11A>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+13C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+15C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6068+19T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6069-16T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.6069-4C>T Single submitter
c.712+11T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.712+13G>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.712+222A>G Single submitter
c.712+9GGT[3] Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-10C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-10CT[2] Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.713-269C>A Single submitter
c.797+13T>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.797+15A>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.797+20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.797+9C>G Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.798-11_798-9del Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.798-11C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.798-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.798-5C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.798-9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.904+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.904+20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.904+53C>G Single submitter
c.905-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.905-9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.-25C>G Single submitter
p.Ala1029= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1035Pro Single submitter
p.Ala1094= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1123= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1145= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala115= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1198= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1236= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1240Gly Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1241= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1313= Single submitter methylmalonic acidemia with homocystinuria, type cblX

Uncertain significance 411

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

c.2353+6G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
c.503+6G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Ala1129Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1236Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1526Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1597Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1597Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1637Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1763Thr Multiple submitters ⚠
p.Ala452Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala744Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1133Gln Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1137Trp Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1169His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1204His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1244His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1511His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg344His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn1439His Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn1465Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1731Ser Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asp1227Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1414His Multiple submitters Inborn genetic diseases ⚠
p.Gln1579Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1699dup Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Glu1113Lys Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1115Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1553Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly1677Asp Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1843Ala Multiple submitters ⚠
p.Ile1225Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ile792Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Met2018Val Multiple submitters Inborn genetic diseases ⚠
p.Met311Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1492Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1494Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1500Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1576Gln Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1993Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ser2030Cys Multiple submitters ⚠
p.Ser411Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser507Asn Multiple submitters ⚠
p.Ser539Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser597Ala Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1427Met Multiple submitters ⚠
p.Thr1459Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr1525Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr466Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr848Ala Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr937Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Thr950Ile Multiple submitters intellectual disability ⚠
p.Val1547Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val1662_Thr1663del Multiple submitters methylmalonic acidemia with homocystinuria, type cblX
p.Val1767Gly Multiple submitters Inborn genetic diseases ⚠
p.Val1845Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val483Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Val890Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblX ⚠
c.2028+6T>C Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.2029-7_2029-6insTAA Single submitter
c.2636-5_2723delinsACCTT Single submitter
c.4498-10C>T Single submitter
c.4498-71C>G Single submitter
c.504-3C>T Single submitter methylmalonic acidemia with homocystinuria, type cblX
c.504-6C>G Single submitter
c.5260+4A>G Single submitter
c.5379+8G>A Single submitter
c.797+7G>T Single submitter
c.*459G>C Single submitter
p.1270VT[1] Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Ala1035Gly Single submitter ⚠
p.Ala1091Thr Single submitter Inborn genetic diseases ⚠
p.Ala1141Gly Single submitter ⚠
p.Ala1155Val Single submitter Inborn genetic diseases ⚠
p.Ala1173Glu Single submitter ⚠
p.Ala1241Ser Single submitter Inborn genetic diseases ⚠
p.Ala1277Ser Single submitter ⚠
p.Ala1277Thr Single submitter Inborn genetic diseases ⚠
p.Ala1283Pro Single submitter Inborn genetic diseases ⚠
p.Ala1333Val Single submitter Inborn genetic diseases ⚠
p.Ala1336Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1375Thr Single submitter Inborn genetic diseases ⚠
p.Ala1396_Pro1397insAla Single submitter
p.Ala1409Gly Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1433Thr Single submitter ⚠
p.Ala1449Pro Single submitter Inborn genetic diseases ⚠
p.Ala1532Thr Single submitter ⚠
p.Ala1537Thr Single submitter ⚠
p.Ala1642_Ala1645del Single submitter
p.Ala1679Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1705Val Single submitter Inborn genetic diseases ⚠
p.Ala1737Gly Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1770Thr Single submitter ⚠
p.Ala1773Val Single submitter ⚠
p.Ala1778Thr Single submitter ⚠
p.Ala1785Val Single submitter ⚠
p.Ala1928Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala1978Thr Single submitter ⚠
p.Ala2032Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala205Gly Single submitter ⚠
p.Ala251Val Single submitter ⚠
p.Ala327Ser Single submitter ⚠
p.Ala327Thr Single submitter
p.Ala329Thr Single submitter ⚠
p.Ala368Ser Single submitter ⚠
p.Ala40Val Single submitter Inborn genetic diseases ⚠
p.Ala429Thr Single submitter ⚠
p.Ala454Pro Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala454Val Single submitter Inborn genetic diseases ⚠
p.Ala477Ser Single submitter ⚠
p.Ala494Pro Single submitter ⚠
p.Ala512Ser Single submitter ⚠
p.Ala548Thr Single submitter ⚠
p.Ala551Thr Single submitter ⚠
p.Ala581Thr Single submitter ⚠
p.Ala696Thr Single submitter Inborn genetic diseases ⚠
p.Ala728Ser Single submitter ⚠
p.Ala783Thr Single submitter Inborn genetic diseases ⚠
p.Ala838Thr Single submitter ⚠
p.Ala895Val Single submitter ⚠
p.Ala897Glu Single submitter ⚠
p.Ala897Val Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ala8del Single submitter Inborn genetic diseases
p.Ala907Val Single submitter Inborn genetic diseases ⚠
p.Ala983Pro Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1148Gln Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg117Gln Single submitter ⚠
p.Arg117Trp Single submitter Inborn genetic diseases ⚠
p.Arg1232Cys Single submitter Inborn genetic diseases ⚠
p.Arg1244Cys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1355Cys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1355His Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg1482Gln Single submitter ⚠
p.Arg1482Leu Single submitter
p.Arg1511Cys Single submitter ⚠
p.Arg1517Leu Single submitter Inborn genetic diseases ⚠
p.Arg1865Cys Single submitter ⚠
p.Arg18Gly Single submitter Inborn genetic diseases ⚠
p.Arg1982Cys Single submitter ⚠
p.Arg320Cys Single submitter intellectual disability ⚠
p.Arg344Cys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg374Cys Single submitter ⚠
p.Arg374His Single submitter ⚠
p.Arg37Cys Single submitter ⚠
p.Arg630Cys Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Arg847Cys Single submitter ⚠
p.Arg847His Single submitter ⚠
p.Asn1068Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn1089_Ala1091del Single submitter
p.Asn1106Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn1118Ser Single submitter ⚠
p.Asn1339His Single submitter Inborn genetic diseases ⚠
p.Asn1339Thr Single submitter ⚠
p.Asn1724Ser Single submitter ⚠
p.Asn1759Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn213Asp Single submitter ⚠
p.Asn213Ser Single submitter ⚠
p.Asn349Lys Single submitter ⚠
p.Asn378Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asn67Ser Single submitter ⚠
p.Asp1003Glu Single submitter Inborn genetic diseases ⚠
p.Asp1445= Single submitter
p.Asp1445Gly Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asp1462Asn Single submitter ⚠
p.Asp161Asn Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Asp1725Asn Single submitter ⚠
p.Asp1847Asn Single submitter ⚠
p.Asp998Asn Single submitter ⚠
p.Cys1075Tyr Single submitter ⚠
p.Cys1080Arg Single submitter Inborn genetic diseases ⚠
p.Cys1104Phe Single submitter ⚠
p.Cys1139Arg Single submitter ⚠
p.Cys1280Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Cys1289Tyr Single submitter ⚠
p.Cys1294Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Cys1322Arg Single submitter Inborn genetic diseases ⚠
p.Cys1872Tyr Single submitter ⚠
p.Cys353Trp Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gln1167His Single submitter ⚠
p.Gln1170His Single submitter ⚠
p.Gln1559Arg Single submitter Inborn genetic diseases ⚠
p.Gln1579His Single submitter ⚠
p.Gln1636Arg Single submitter Inborn genetic diseases ⚠
p.Gln1640Arg Single submitter ⚠
p.Gln1664Glu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gln1699_Gln1708dup Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gln956His Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Glu1113Gln Single submitter ⚠
p.Glu1251Gly Single submitter ⚠
p.Glu1346Lys Single submitter Inborn genetic diseases ⚠
p.Glu1533Gly Single submitter ⚠
p.Glu1594Lys Single submitter ⚠
p.Glu1610Lys Single submitter ⚠
p.Glu1657Lys Single submitter ⚠
p.Glu1789Lys Single submitter ⚠
p.Glu1922Gln Single submitter ⚠
p.Glu210Lys Single submitter ⚠
p.Glu360Asp Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Glu988Gln Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1007= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly1086Asp Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1184Arg Single submitter ⚠
p.Gly1248Asp Single submitter Inborn genetic diseases ⚠
p.Gly1250Ala Single submitter ⚠
p.Gly1264Ala Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly131Arg Single submitter ⚠
p.Gly1341Ala Single submitter ⚠
p.Gly1347Ser Single submitter Inborn genetic diseases ⚠
p.Gly1366_Thr1367delinsAla Single submitter
p.Gly1390Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1404Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1404Val Single submitter Inborn genetic diseases ⚠
p.Gly1461Arg Single submitter Inborn genetic diseases ⚠
p.Gly1529Arg Single submitter ⚠
p.Gly1553Arg Single submitter Inborn genetic diseases ⚠
p.Gly1668Ala Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1738Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly1792Cys Single submitter ⚠
p.Gly1820Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly249Arg Single submitter ⚠
p.Gly264Ala Single submitter ⚠
p.Gly264Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly27Asp Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly444Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Gly585Ser Single submitter ⚠
p.Gly618Arg Single submitter ⚠
p.Gly764Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Gly852Val Single submitter ⚠
p.Gly898Arg Single submitter Inborn genetic diseases ⚠
p.Gly898Val Single submitter Inborn genetic diseases ⚠
p.Gly899Ser Single submitter ⚠
p.Gly968Glu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.His1102Pro Single submitter ⚠
p.His1431Tyr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.His975Arg Single submitter ⚠
p.Ile175Thr Single submitter ⚠
p.Ile1921Thr Single submitter intellectual disability ⚠
p.Ile1971Asn Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Ile472Met Single submitter ⚠
p.Ile632Val Single submitter ⚠
p.Ile735Val Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Leu1059Phe Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Leu1228Phe Single submitter Inborn genetic diseases ⚠
p.Leu1587Phe Single submitter Inborn genetic diseases ⚠
p.Leu1723Val Single submitter ⚠
p.Leu1775Val Single submitter Inborn genetic diseases ⚠
p.Leu1781Val Single submitter ⚠
p.Leu549_Ala551del Single submitter
p.Leu589Val Single submitter Inborn genetic diseases ⚠
p.Leu610Val Single submitter ⚠
p.Leu982Pro Single submitter ⚠
p.Lys1807Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Met1098Ile Single submitter ⚠
p.Met1124Thr Single submitter ⚠
p.Met1603Val Single submitter ⚠
p.Met2023Ile Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Met2023Thr Single submitter ⚠
p.Met851Val Single submitter Inborn genetic diseases ⚠
p.Pro1041Arg Single submitter ⚠
p.Pro1041Leu Single submitter ⚠
p.Pro1078Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1191Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1195Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro11Leu Single submitter Inborn genetic diseases ⚠
p.Pro1201Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1229Leu Single submitter Inborn genetic diseases ⚠
p.Pro1252Arg Single submitter Inborn genetic diseases ⚠
p.Pro1252Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1252Thr Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1256Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1281His Single submitter ⚠
p.Pro1320Leu Single submitter ⚠
p.Pro1401Leu Single submitter ⚠
p.Pro1421Leu Single submitter ⚠
p.Pro1541Ser Single submitter ⚠
p.Pro1574= Single submitter
p.Pro1575Arg Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro1748= Single submitter methylmalonic acidemia with homocystinuria, type cblX
p.Pro1748Ser Single submitter ⚠
p.Pro1766Leu Single submitter ⚠
p.Pro1798Thr Single submitter Inborn genetic diseases ⚠
p.Pro180Leu Single submitter Inborn genetic diseases ⚠
p.Pro1846Arg Single submitter
p.Pro1888= Single submitter
p.Pro1903Leu Single submitter Inborn genetic diseases ⚠
p.Pro1943Arg Single submitter ⚠
p.Pro2012Ala Single submitter ⚠
p.Pro2021Ser Single submitter ⚠
p.Pro416Thr Single submitter Inborn genetic diseases ⚠
p.Pro435Ala Single submitter Inborn genetic diseases ⚠
p.Pro465Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro492Ser Single submitter ⚠
p.Pro513Ala Single submitter ⚠
p.Pro528Leu Single submitter X-linked intellectual disability ⚠
p.Pro541Ser Single submitter ⚠
p.Pro571Leu Single submitter ⚠
p.Pro715Leu Single submitter ⚠
p.Pro763Ser Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠
p.Pro819Arg Single submitter ⚠
p.Pro819His Single submitter ⚠
p.Pro839Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX ⚠