PC — 1422 ClinVar variants

Pathogenic 65

• p.Ala610Thr Multiple submitters pyruvate carboxylase deficiency disease
• p.Val831_Phe832insTer Multiple submitters pyruvate carboxylase deficiency disease
• c.1023-1G>A Single submitter pyruvate carboxylase deficiency disease
• c.1186-1G>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+3605C>A Single submitter pyruvate carboxylase deficiency disease
• c.1513+1G>A Single submitter pyruvate carboxylase deficiency disease
• c.321+1G>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+1G>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+1G>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+2T>C Single submitter pyruvate carboxylase deficiency disease
• p.Ala1064fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala125fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala280fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala412fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala448fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala778fs Single submitter pyruvate carboxylase deficiency disease
• p.Arg124Ter Single submitter pyruvate carboxylase deficiency disease
• p.Arg263Ter Single submitter pyruvate carboxylase deficiency disease
• p.Arg445fs Single submitter pyruvate carboxylase deficiency disease
• p.Asn669fs Single submitter pyruvate carboxylase deficiency disease
• p.Asp390fs Single submitter pyruvate carboxylase deficiency disease
• p.Asp712fs Single submitter pyruvate carboxylase deficiency disease
• p.Asp916fs Single submitter pyruvate carboxylase deficiency disease
• p.Gln348Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln375Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln469Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln470Ter Single submitter Global developmental delay
• p.Gln479Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln489fs Single submitter pyruvate carboxylase deficiency disease
• p.Gln494Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln640Ter Single submitter pyruvate carboxylase deficiency disease
• p.Glu1046fs Single submitter pyruvate carboxylase deficiency disease
• p.Glu123Ter Single submitter pyruvate carboxylase deficiency disease
• p.Glu305Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gly1041fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly1055fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly150dup Single submitter pyruvate carboxylase deficiency disease
• p.Gly198fs Single submitter pyruvate carboxylase deficiency disease
• p.Ile1121fs Single submitter pyruvate carboxylase deficiency disease
• p.Ile1123fs Single submitter pyruvate carboxylase deficiency disease
• p.Leu362fs Single submitter pyruvate carboxylase deficiency disease
• p.Leu985fs Single submitter pyruvate carboxylase deficiency disease
• p.Lys1106Ter Single submitter pyruvate carboxylase deficiency disease
• p.Phe959fs Single submitter pyruvate carboxylase deficiency disease
• p.Pro984fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser122fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser266Tyr Single submitter
• p.Ser356fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser705Ter Single submitter pyruvate carboxylase deficiency disease
• p.Ser714fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser719fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr1003fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr1035fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr1057fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr568fs Single submitter pyruvate carboxylase deficiency disease
• p.Tyr871Ter Single submitter pyruvate carboxylase deficiency disease
• p.Val1126fs Single submitter pyruvate carboxylase deficiency disease
• p.Val861fs Single submitter pyruvate carboxylase deficiency disease
• p.Val890Phe Single submitter pyruvate carboxylase deficiency disease
• c.1825+2_1825+5del No assertion criteria pyruvate carboxylase deficiency disease
• p.Arg583Leu No assertion criteria pyruvate carboxylase deficiency disease
• p.Glu961fs No assertion criteria pyruvate carboxylase deficiency disease
• p.His769Leu No assertion criteria Congenital lactic acidosis
• p.Met743Ile No assertion criteria pyruvate carboxylase deficiency disease
• p.Val145Ala No assertion criteria pyruvate carboxylase deficiency disease ⚠

Pathogenic/Likely pathogenic 14

• c.2473+2_2473+5del Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg18Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg453Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg547Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg555Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg571fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg631Gln Multiple submitters pyruvate carboxylase deficiency disease
• p.Cys752fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Glu449Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Gly303fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Leu1030fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Leu1137fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Lys1130fs Multiple submitters pyruvate carboxylase deficiency disease
• p.Phe660fs Multiple submitters pyruvate carboxylase deficiency disease

Likely pathogenic 97

• c.1368+1G>A Multiple submitters pyruvate carboxylase deficiency disease
• c.1826-1G>C Multiple submitters pyruvate carboxylase deficiency disease
• c.1983-116C>T Multiple submitters pyruvate carboxylase deficiency disease
• c.633+2T>C Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala812Asp Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg451Cys Multiple submitters pyruvate carboxylase deficiency disease
• p.Gln94Ter Multiple submitters pyruvate carboxylase deficiency disease
• p.Glu991Ter Multiple submitters pyruvate carboxylase deficiency disease
• c.136+1G>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+1G>C Single submitter pyruvate carboxylase deficiency disease
• c.1368+1G>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-1G>C Single submitter pyruvate carboxylase deficiency disease
• c.1514-2A>G Single submitter pyruvate carboxylase deficiency disease
• c.1825+1G>A Single submitter pyruvate carboxylase deficiency disease
• c.1825+2T>G Single submitter pyruvate carboxylase deficiency disease
• c.2473+1G>C Single submitter pyruvate carboxylase deficiency disease
• c.2473+2T>C Single submitter pyruvate carboxylase deficiency disease
• c.2898+2_2898+5del Single submitter pyruvate carboxylase deficiency disease
• c.2898+2T>C Single submitter pyruvate carboxylase deficiency disease
• c.3146_3147+1del Single submitter pyruvate carboxylase deficiency disease
• c.3147+2T>C Single submitter pyruvate carboxylase deficiency disease
• c.322-2A>G Single submitter pyruvate carboxylase deficiency disease
• c.634-1G>A Single submitter pyruvate carboxylase deficiency disease
• c.903+2del Single submitter pyruvate carboxylase deficiency disease
• c.903+2T>A Single submitter pyruvate carboxylase deficiency disease
• p.Ala195Val Single submitter pyruvate carboxylase deficiency disease
• p.Ala787fs Single submitter pyruvate carboxylase deficiency disease
• p.Ala935fs Single submitter pyruvate carboxylase deficiency disease
• p.Arg156Pro Single submitter pyruvate carboxylase deficiency disease
• p.Arg30fs Single submitter pyruvate carboxylase deficiency disease
• p.Arg406Cys Single submitter pyruvate carboxylase deficiency disease
• p.Arg732Ter Single submitter pyruvate carboxylase deficiency disease
• p.Asn110fs Single submitter pyruvate carboxylase deficiency disease
• p.Asn458Asp Single submitter pyruvate carboxylase deficiency disease
• p.Asn864fs Single submitter pyruvate carboxylase deficiency disease
• p.Asp423Asn Single submitter
• p.Asp765fs Single submitter pyruvate carboxylase deficiency disease
• p.Asp81fs Single submitter pyruvate carboxylase deficiency disease
• p.Cys739_Lys741delinsTrp Single submitter pyruvate carboxylase deficiency disease
• p.Gln1083Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln272Arg Single submitter pyruvate carboxylase deficiency disease
• p.Gln286fs Single submitter pyruvate carboxylase deficiency disease
• p.Gln348fs Single submitter
• p.Gln74Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln899fs Single submitter pyruvate carboxylase deficiency disease
• p.Gln919Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln934Ter Single submitter pyruvate carboxylase deficiency disease
• p.Gln94fs Single submitter pyruvate carboxylase deficiency disease
• p.Glu1146fs Single submitter pyruvate carboxylase deficiency disease
• p.Glu236Ter Single submitter pyruvate carboxylase deficiency disease
• p.Glu276Ter Single submitter pyruvate carboxylase deficiency disease
• p.Glu664fs Single submitter pyruvate carboxylase deficiency disease
• p.Glu729fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly15fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly200fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly255fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly474fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly790fs Single submitter pyruvate carboxylase deficiency disease
• p.Gly869Ala Single submitter pyruvate carboxylase deficiency disease
• p.Gly869Asp Single submitter pyruvate carboxylase deficiency disease
• p.His115fs Single submitter pyruvate carboxylase deficiency disease
• p.His244fs Single submitter pyruvate carboxylase deficiency disease
• p.His432fs Single submitter pyruvate carboxylase deficiency disease
• p.His596fs Single submitter pyruvate carboxylase deficiency disease
• p.His736fs Single submitter pyruvate carboxylase deficiency disease
• p.His956fs Single submitter pyruvate carboxylase deficiency disease
• p.Ile99fs Single submitter pyruvate carboxylase deficiency disease
• p.Leu601fs Single submitter pyruvate carboxylase deficiency disease
• p.Lys1103fs Single submitter pyruvate carboxylase deficiency disease
• p.Lys892Ter Single submitter pyruvate carboxylase deficiency disease
• p.Lys966fs Single submitter pyruvate carboxylase deficiency disease
• p.Met1095fs Single submitter pyruvate carboxylase deficiency disease
• p.Met900Lys Single submitter pyruvate carboxylase deficiency disease
• p.Phe53fs Single submitter pyruvate carboxylase deficiency disease
• p.Phe541fs Single submitter pyruvate carboxylase deficiency disease
• p.Pro27fs Single submitter pyruvate carboxylase deficiency disease
• p.Pro36fs Single submitter pyruvate carboxylase deficiency disease
• p.Pro512fs Single submitter pyruvate carboxylase deficiency disease
• p.Pro522fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser521fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser705fs Single submitter pyruvate carboxylase deficiency disease
• p.Ser859Ter Single submitter pyruvate carboxylase deficiency disease
• p.Thr513fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr525fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr63fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr805fs Single submitter pyruvate carboxylase deficiency disease
• p.Thr908Met Single submitter pyruvate carboxylase deficiency disease
• p.Tyr67fs Single submitter pyruvate carboxylase deficiency disease
• p.Tyr845fs Single submitter pyruvate carboxylase deficiency disease
• p.Tyr845Ter Single submitter pyruvate carboxylase deficiency disease
• p.Tyr84fs Single submitter pyruvate carboxylase deficiency disease
• p.Val296fs Single submitter pyruvate carboxylase deficiency disease
• p.Val507fs Single submitter pyruvate carboxylase deficiency disease
• p.Val509fs Single submitter pyruvate carboxylase deficiency disease
• p.Val582fs Single submitter pyruvate carboxylase deficiency disease
• p.Arg385fs No assertion criteria pyruvate carboxylase deficiency disease
• p.Phe1048fs No assertion criteria pyruvate carboxylase deficiency disease

Conflicting classifications of pathogenicity 93

• c.1023-14C>A Single submitter pyruvate carboxylase deficiency disease
• c.1023-14C>G Single submitter pyruvate carboxylase deficiency disease
• c.1368+11G>A Single submitter pyruvate carboxylase deficiency disease
• c.137-5T>A Single submitter Inborn genetic diseases
• c.1514-13G>A Single submitter pyruvate carboxylase deficiency disease
• c.1514-6C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.2899-9G>A Single submitter pyruvate carboxylase deficiency disease
• c.3148-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.321+5G>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+4T>C Single submitter pyruvate carboxylase deficiency disease
• c.751+13G>A Single submitter pyruvate carboxylase deficiency disease
• c.904-11C>T Single submitter pyruvate carboxylase deficiency disease
• c.*15G>A Single submitter pyruvate carboxylase deficiency disease
• c.*89G>A Single submitter pyruvate carboxylase deficiency disease
• p.Ala1114Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala162= Single submitter pyruvate carboxylase deficiency disease
• p.Ala384Val Single submitter Inborn genetic diseases ⚠
• p.Ala448Val Single submitter Inborn genetic diseases ⚠
• p.Ala573Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala591Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala918= Single submitter pyruvate carboxylase deficiency disease
• p.Arg1036His Single submitter Inborn genetic diseases ⚠
• p.Arg1070Gln Single submitter Inborn genetic diseases ⚠
• p.Arg147His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg17His Single submitter Inborn genetic diseases ⚠
• p.Arg263Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg269Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg30Gln Single submitter Inborn genetic diseases ⚠
• p.Arg363Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg547Gln Single submitter Inborn genetic diseases ⚠
• p.Arg555Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg625Gln Single submitter Inborn genetic diseases ⚠
• p.Arg626Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg732Gln Single submitter Inborn genetic diseases ⚠
• p.Arg760Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg762His Single submitter Inborn genetic diseases ⚠
• p.Arg830His Single submitter Inborn genetic diseases ⚠
• p.Arg928Gln Single submitter Inborn genetic diseases ⚠
• p.Asn1081Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asn510= Single submitter pyruvate carboxylase deficiency disease
• p.Asn647Ser Single submitter Inborn genetic diseases ⚠
• p.Asp1172Asn Single submitter Inborn genetic diseases ⚠
• p.Asp359Asn Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp482= Single submitter pyruvate carboxylase deficiency disease
• p.Asp712Asn Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp823= Single submitter pyruvate carboxylase deficiency disease
• p.Cys850= Single submitter pyruvate carboxylase deficiency disease
• p.Glu1154Asp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu246Lys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu262Asp Single submitter Inborn genetic diseases ⚠
• p.Glu262Lys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu728Lys Single submitter Inborn genetic diseases ⚠
• p.Gly433Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.His1161= Single submitter pyruvate carboxylase deficiency disease
• p.His181= Single submitter pyruvate carboxylase deficiency disease
• p.Ile191Val Single submitter Inborn genetic diseases ⚠
• p.Ile239Val Single submitter Inborn genetic diseases ⚠
• p.Ile394Thr Single submitter Inborn genetic diseases ⚠
• p.Ile459= Single submitter pyruvate carboxylase deficiency disease
• p.Leu1137Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Leu504= Single submitter pyruvate carboxylase deficiency disease
• p.Leu755= Single submitter pyruvate carboxylase deficiency disease
• p.Lys1133= Single submitter pyruvate carboxylase deficiency disease
• p.Lys1159Glu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Lys589Asn Single submitter Inborn genetic diseases ⚠
• p.Lys667Thr Single submitter Inborn genetic diseases ⚠
• p.Met1145Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met1166Thr Single submitter Inborn genetic diseases ⚠
• p.Phe1017Leu Single submitter Inborn genetic diseases ⚠
• p.Pro358Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro530Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro536Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser1066= Single submitter pyruvate carboxylase deficiency disease
• p.Ser266Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser293= Single submitter pyruvate carboxylase deficiency disease
• p.Ser411= Single submitter pyruvate carboxylase deficiency disease
• p.Ser981Phe Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr1057Met Single submitter Inborn genetic diseases ⚠
• p.Thr309= Single submitter pyruvate carboxylase deficiency disease
• p.Thr438Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr525Met Single submitter Inborn genetic diseases ⚠
• p.Thr568Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr57Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Tyr221Phe Single submitter Inborn genetic diseases ⚠
• p.Tyr422= Single submitter pyruvate carboxylase deficiency disease
• p.Val1065Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val1131Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val166Ile Single submitter Inborn genetic diseases ⚠
• p.Val206Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val528Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val64Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg156Gln No assertion criteria pyruvate carboxylase deficiency disease ⚠

Benign 24

• c.1022+154C>A Multiple submitters
• c.1513+13del Multiple submitters pyruvate carboxylase deficiency disease
• c.2224-9T>G Multiple submitters pyruvate carboxylase deficiency disease
• c.904-17C>T Multiple submitters pyruvate carboxylase deficiency disease
• c.*106G>T Multiple submitters pyruvate carboxylase deficiency disease
• p.Asn873= Multiple submitters pyruvate carboxylase deficiency disease
• p.Asp860= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr750Met Multiple submitters pyruvate carboxylase deficiency disease
• p.Val29Ile Multiple submitters pyruvate carboxylase deficiency disease
• c.1-35650G>A Single submitter
• c.1368+19del Single submitter pyruvate carboxylase deficiency disease
• c.2224-3del Single submitter pyruvate carboxylase deficiency disease
• c.2899-3del Single submitter pyruvate carboxylase deficiency disease
• c.322-9dup Single submitter pyruvate carboxylase deficiency disease
• c.3288+14del Single submitter pyruvate carboxylase deficiency disease
• c.488-19dup Single submitter pyruvate carboxylase deficiency disease
• c.634-5C>T Single submitter pyruvate carboxylase deficiency disease
• c.904-5dup Single submitter pyruvate carboxylase deficiency disease
• c.*13C>T Single submitter
• p.Gln498= Single submitter pyruvate carboxylase deficiency disease
• p.Ile952= Single submitter pyruvate carboxylase deficiency disease
• p.Pro1014= Single submitter pyruvate carboxylase deficiency disease
• p.Tyr845= Single submitter pyruvate carboxylase deficiency disease
• p.Tyr862= Single submitter pyruvate carboxylase deficiency disease

Benign/Likely benign 16

• c.1513+9C>A Multiple submitters pyruvate carboxylase deficiency disease
• c.1604-17G>A Multiple submitters pyruvate carboxylase deficiency disease
• c.2223+19C>T Multiple submitters pyruvate carboxylase deficiency disease
• c.2224-31TC[8] Multiple submitters pyruvate carboxylase deficiency disease
• c.322-10C>T Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala448= Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg18= Multiple submitters pyruvate carboxylase deficiency disease
• p.Asn467= Multiple submitters pyruvate carboxylase deficiency disease
• p.Asn864= Multiple submitters pyruvate carboxylase deficiency disease
• p.His317= Multiple submitters pyruvate carboxylase deficiency disease
• p.Phe1078= Multiple submitters pyruvate carboxylase deficiency disease
• p.Pro517= Multiple submitters pyruvate carboxylase deficiency disease
• p.Pro536= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ser1086= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ser859= Multiple submitters pyruvate carboxylase deficiency disease
• p.Tyr894= Multiple submitters pyruvate carboxylase deficiency disease

Likely benign 819

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

• c.1514-51G>A Multiple submitters
• c.1825+22C>T Multiple submitters
• c.2224-18C>A Multiple submitters pyruvate carboxylase deficiency disease
• c.2473+20G>T Multiple submitters pyruvate carboxylase deficiency disease
• c.3288+20C>T Multiple submitters pyruvate carboxylase deficiency disease
• c.3289-10G>C Multiple submitters pyruvate carboxylase deficiency disease
• c.634-10G>A Multiple submitters pyruvate carboxylase deficiency disease
• c.634-4G>A Multiple submitters pyruvate carboxylase deficiency disease
• c.752-5C>T Multiple submitters pyruvate carboxylase deficiency disease
• c.904-16G>A Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala1011= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala1064= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala1071Gly Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala1132Thr Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala195= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala281= Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala692= Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg5Gln Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Asn306= Multiple submitters pyruvate carboxylase deficiency disease
• p.Asp709= Multiple submitters pyruvate carboxylase deficiency disease
• p.Asp916= Multiple submitters pyruvate carboxylase deficiency disease
• p.Gly708= Multiple submitters pyruvate carboxylase deficiency disease
• p.Gly902= Multiple submitters pyruvate carboxylase deficiency disease
• p.Gly950= Multiple submitters pyruvate carboxylase deficiency disease
• p.His432= Multiple submitters pyruvate carboxylase deficiency disease
• p.Leu32= Multiple submitters pyruvate carboxylase deficiency disease
• p.Phe53= Multiple submitters pyruvate carboxylase deficiency disease
• p.Pro383= Multiple submitters pyruvate carboxylase deficiency disease
• p.Pro764= Multiple submitters pyruvate carboxylase deficiency disease
• p.Pro960= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr391= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr438= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr525= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr568= Multiple submitters pyruvate carboxylase deficiency disease
• p.Thr775= Multiple submitters pyruvate carboxylase deficiency disease
• p.Tyr187= Multiple submitters pyruvate carboxylase deficiency disease
• p.Val507Ile Multiple submitters pyruvate carboxylase deficiency disease ⚠
• c.1-237C>A Single submitter
• c.1-245G>C Single submitter
• c.1-37A>C Single submitter
• c.1022+283G>A Single submitter
• c.1023-13C>A Single submitter pyruvate carboxylase deficiency disease
• c.1023-13C>T Single submitter pyruvate carboxylase deficiency disease
• c.1023-14_1023-6del Single submitter pyruvate carboxylase deficiency disease
• c.1023-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.1023-15C>G Single submitter pyruvate carboxylase deficiency disease
• c.1023-20C>T Single submitter pyruvate carboxylase deficiency disease
• c.1023-231A>G Single submitter
• c.1023-33C>T Single submitter
• c.1023-4A>G Single submitter pyruvate carboxylase deficiency disease
• c.1023-57C>T Single submitter
• c.1023-5T>G Single submitter pyruvate carboxylase deficiency disease
• c.1185+111G>A Single submitter
• c.1185+13C>T Single submitter pyruvate carboxylase deficiency disease
• c.1185+14G>A Single submitter pyruvate carboxylase deficiency disease
• c.1185+14G>C Single submitter pyruvate carboxylase deficiency disease
• c.1185+172G>A Single submitter
• c.1185+7G>A Single submitter pyruvate carboxylase deficiency disease
• c.1186-10C>G Single submitter pyruvate carboxylase deficiency disease
• c.1186-12C>A Single submitter pyruvate carboxylase deficiency disease
• c.1186-18G>A Single submitter pyruvate carboxylase deficiency disease
• c.1186-19C>A Single submitter pyruvate carboxylase deficiency disease
• c.1186-19C>G Single submitter pyruvate carboxylase deficiency disease
• c.1186-19C>T Single submitter pyruvate carboxylase deficiency disease
• c.1186-5C>T Single submitter pyruvate carboxylase deficiency disease
• c.1186-5del Single submitter pyruvate carboxylase deficiency disease
• c.1186-8T>A Single submitter pyruvate carboxylase deficiency disease
• c.136+11G>T Single submitter pyruvate carboxylase deficiency disease
• c.136+12T>G Single submitter pyruvate carboxylase deficiency disease
• c.136+14G>C Single submitter pyruvate carboxylase deficiency disease
• c.136+18C>T Single submitter pyruvate carboxylase deficiency disease
• c.136+18del Single submitter pyruvate carboxylase deficiency disease
• c.136+19G>A Single submitter pyruvate carboxylase deficiency disease
• c.136+8C>G Single submitter pyruvate carboxylase deficiency disease
• c.136+8C>T Single submitter pyruvate carboxylase deficiency disease
• c.136+9C>G Single submitter pyruvate carboxylase deficiency disease
• c.136+9C>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+142T>C Single submitter
• c.1368+14G>A Single submitter pyruvate carboxylase deficiency disease
• c.1368+17C>G Single submitter pyruvate carboxylase deficiency disease
• c.1368+17C>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+19C>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+20del Single submitter pyruvate carboxylase deficiency disease
• c.1368+20G>A Single submitter pyruvate carboxylase deficiency disease
• c.1368+20G>T Single submitter pyruvate carboxylase deficiency disease
• c.1368+294G>A Single submitter
• c.1368+7G>C Single submitter pyruvate carboxylase deficiency disease
• c.1369-15G>A Single submitter pyruvate carboxylase deficiency disease
• c.1369-16C>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-17C>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-20C>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-4G>A Single submitter pyruvate carboxylase deficiency disease
• c.1369-5T>C Single submitter pyruvate carboxylase deficiency disease
• c.1369-6C>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-7C>T Single submitter pyruvate carboxylase deficiency disease
• c.1369-9G>A Single submitter pyruvate carboxylase deficiency disease
• c.137-11T>C Single submitter pyruvate carboxylase deficiency disease
• c.137-12T>C Single submitter pyruvate carboxylase deficiency disease
• c.137-13C>T Single submitter pyruvate carboxylase deficiency disease
• c.137-4C>T Single submitter pyruvate carboxylase deficiency disease
• c.137-5T>G Single submitter pyruvate carboxylase deficiency disease
• c.137-6C>T Single submitter pyruvate carboxylase deficiency disease
• c.1513+10G>A Single submitter pyruvate carboxylase deficiency disease
• c.1513+10G>C Single submitter pyruvate carboxylase deficiency disease
• c.1513+15T>C Single submitter pyruvate carboxylase deficiency disease
• c.1513+17C>T Single submitter pyruvate carboxylase deficiency disease
• c.1513+18C>T Single submitter pyruvate carboxylase deficiency disease
• c.1513+28CCTCC[2] Single submitter
• c.1513+9C>G Single submitter pyruvate carboxylase deficiency disease
• c.1513+9C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-10T>C Single submitter pyruvate carboxylase deficiency disease
• c.1514-12C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-13G>C Single submitter pyruvate carboxylase deficiency disease
• c.1514-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-15C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-5C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-7T>A Single submitter pyruvate carboxylase deficiency disease
• c.1514-8C>T Single submitter pyruvate carboxylase deficiency disease
• c.1514-9T>C Single submitter pyruvate carboxylase deficiency disease
• c.1603+12C>G Single submitter pyruvate carboxylase deficiency disease
• c.1603+17C>T Single submitter pyruvate carboxylase deficiency disease
• c.1603+18T>G Single submitter pyruvate carboxylase deficiency disease
• c.1603+4G>T Single submitter
• c.1603+7G>A Single submitter pyruvate carboxylase deficiency disease
• c.1604-12T>C Single submitter pyruvate carboxylase deficiency disease
• c.1604-13_1604-12del Single submitter pyruvate carboxylase deficiency disease
• c.1604-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.1604-15C>T Single submitter pyruvate carboxylase deficiency disease
• c.1604-16C>A Single submitter pyruvate carboxylase deficiency disease
• c.1604-4C>T Single submitter pyruvate carboxylase deficiency disease
• c.1604-6C>T Single submitter pyruvate carboxylase deficiency disease
• c.1604-7A>T Single submitter pyruvate carboxylase deficiency disease
• c.1604-8T>A Single submitter pyruvate carboxylase deficiency disease
• c.1604-9C>T Single submitter pyruvate carboxylase deficiency disease
• c.1825+10C>T Single submitter pyruvate carboxylase deficiency disease
• c.1825+14C>G Single submitter pyruvate carboxylase deficiency disease
• c.1825+17C>T Single submitter pyruvate carboxylase deficiency disease
• c.1825+18G>A Single submitter pyruvate carboxylase deficiency disease
• c.1825+18G>T Single submitter pyruvate carboxylase deficiency disease
• c.1825+7T>C Single submitter pyruvate carboxylase deficiency disease
• c.1826-14C>T Single submitter pyruvate carboxylase deficiency disease
• c.1826-18C>T Single submitter pyruvate carboxylase deficiency disease
• c.1826-4G>A Single submitter pyruvate carboxylase deficiency disease
• c.1826-5T>C Single submitter pyruvate carboxylase deficiency disease
• c.1826-6G>A Single submitter pyruvate carboxylase deficiency disease
• c.1826-6G>C Single submitter pyruvate carboxylase deficiency disease
• c.1826-8C>T Single submitter pyruvate carboxylase deficiency disease
• c.1826-9C>T Single submitter pyruvate carboxylase deficiency disease
• c.1982+10G>A Single submitter pyruvate carboxylase deficiency disease
• c.1982+12G>A Single submitter pyruvate carboxylase deficiency disease
• c.1982+13T>G Single submitter pyruvate carboxylase deficiency disease
• c.1982+15G>T Single submitter pyruvate carboxylase deficiency disease
• c.1982+16G>C Single submitter pyruvate carboxylase deficiency disease
• c.1982+17G>A Single submitter pyruvate carboxylase deficiency disease
• c.1982+18T>C Single submitter pyruvate carboxylase deficiency disease
• c.1982+7C>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-10A>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-11C>T Single submitter pyruvate carboxylase deficiency disease
• c.1983-15C>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-16T>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-18G>A Single submitter pyruvate carboxylase deficiency disease
• c.1983-18G>C Single submitter pyruvate carboxylase deficiency disease
• c.1983-19G>C Single submitter pyruvate carboxylase deficiency disease
• c.1983-19G>T Single submitter pyruvate carboxylase deficiency disease
• c.1983-5T>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-7C>G Single submitter pyruvate carboxylase deficiency disease
• c.1983-8C>T Single submitter pyruvate carboxylase deficiency disease
• c.1983-91G>T Single submitter
• c.1983-92A>T Single submitter
• c.1983-9C>T Single submitter pyruvate carboxylase deficiency disease
• c.2223+11C>G Single submitter pyruvate carboxylase deficiency disease
• c.2223+13C>T Single submitter pyruvate carboxylase deficiency disease
• c.2223+17T>C Single submitter pyruvate carboxylase deficiency disease
• c.2223+18C>T Single submitter pyruvate carboxylase deficiency disease
• c.2223+20G>A Single submitter pyruvate carboxylase deficiency disease
• c.2223+7G>T Single submitter pyruvate carboxylase deficiency disease
• c.2223+8G>A Single submitter pyruvate carboxylase deficiency disease
• c.2223+9G>A Single submitter pyruvate carboxylase deficiency disease
• c.2224-13_2224-12del Single submitter pyruvate carboxylase deficiency disease
• c.2224-13C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-15T>A Single submitter pyruvate carboxylase deficiency disease
• c.2224-15T>C Single submitter pyruvate carboxylase deficiency disease
• c.2224-16_2224-9dup Single submitter pyruvate carboxylase deficiency disease
• c.2224-18C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-20C>G Single submitter pyruvate carboxylase deficiency disease
• c.2224-20C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-31TC[10] Single submitter pyruvate carboxylase deficiency disease
• c.2224-31TC[11] Single submitter pyruvate carboxylase deficiency disease
• c.2224-31TC[12] Single submitter pyruvate carboxylase deficiency disease
• c.2224-31TC[7] Single submitter pyruvate carboxylase deficiency disease
• c.2224-4C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-6C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-7C>T Single submitter pyruvate carboxylase deficiency disease
• c.2224-9T>C Single submitter pyruvate carboxylase deficiency disease
• c.2473+10_2473+12del Single submitter pyruvate carboxylase deficiency disease
• c.2473+11C>T Single submitter pyruvate carboxylase deficiency disease
• c.2473+16G>C Single submitter pyruvate carboxylase deficiency disease
• c.2473+18C>T Single submitter pyruvate carboxylase deficiency disease
• c.2473+19C>T Single submitter pyruvate carboxylase deficiency disease
• c.2473+20G>A Single submitter pyruvate carboxylase deficiency disease
• c.2473+7A>G Single submitter pyruvate carboxylase deficiency disease
• c.2473+8G>A Single submitter pyruvate carboxylase deficiency disease
• c.2474-10C>T Single submitter pyruvate carboxylase deficiency disease
• c.2474-11C>T Single submitter pyruvate carboxylase deficiency disease
• c.2474-15_2474-14del Single submitter pyruvate carboxylase deficiency disease
• c.2474-16T>C Single submitter pyruvate carboxylase deficiency disease
• c.2474-17C>T Single submitter pyruvate carboxylase deficiency disease
• c.2474-18_2474-13del Single submitter pyruvate carboxylase deficiency disease
• c.2474-22_2474-20del Single submitter pyruvate carboxylase deficiency disease
• c.2474-4G>A Single submitter pyruvate carboxylase deficiency disease
• c.2474-5T>C Single submitter pyruvate carboxylase deficiency disease
• c.2474-9T>C Single submitter pyruvate carboxylase deficiency disease
• c.2718+10G>C Single submitter pyruvate carboxylase deficiency disease
• c.2718+12_2718+13dup Single submitter pyruvate carboxylase deficiency disease
• c.2718+13C>A Single submitter pyruvate carboxylase deficiency disease
• c.2718+13C>G Single submitter pyruvate carboxylase deficiency disease
• c.2718+13C>T Single submitter pyruvate carboxylase deficiency disease
• c.2718+14G>A Single submitter pyruvate carboxylase deficiency disease
• c.2718+17G>A Single submitter pyruvate carboxylase deficiency disease
• c.2718+8C>A Single submitter pyruvate carboxylase deficiency disease
• c.2718+8C>T Single submitter pyruvate carboxylase deficiency disease
• c.2718+9G>A Single submitter pyruvate carboxylase deficiency disease
• c.2718+9G>C Single submitter pyruvate carboxylase deficiency disease
• c.2719-11C>A Single submitter pyruvate carboxylase deficiency disease
• c.2719-12C>T Single submitter pyruvate carboxylase deficiency disease
• c.2719-13G>A Single submitter pyruvate carboxylase deficiency disease
• c.2719-14G>T Single submitter pyruvate carboxylase deficiency disease
• c.2719-18C>T Single submitter pyruvate carboxylase deficiency disease
• c.2719-19T>G Single submitter pyruvate carboxylase deficiency disease
• c.2719-20C>T Single submitter pyruvate carboxylase deficiency disease
• c.2719-5_2719-3del Single submitter pyruvate carboxylase deficiency disease
• c.2719-5C>T Single submitter pyruvate carboxylase deficiency disease
• c.2898+10G>C Single submitter pyruvate carboxylase deficiency disease
• c.2898+11C>T Single submitter pyruvate carboxylase deficiency disease
• c.2898+12C>G Single submitter pyruvate carboxylase deficiency disease
• c.2898+14A>G Single submitter pyruvate carboxylase deficiency disease
• c.2898+15G>C Single submitter pyruvate carboxylase deficiency disease
• c.2898+17A>G Single submitter pyruvate carboxylase deficiency disease
• c.2898+20G>A Single submitter pyruvate carboxylase deficiency disease
• c.2899-14G>C Single submitter pyruvate carboxylase deficiency disease
• c.2899-16_2899-15del Single submitter pyruvate carboxylase deficiency disease
• c.2899-18C>T Single submitter pyruvate carboxylase deficiency disease
• c.2899-20T>G Single submitter pyruvate carboxylase deficiency disease
• c.2899-4C>A Single submitter pyruvate carboxylase deficiency disease
• c.2899-7T>C Single submitter pyruvate carboxylase deficiency disease
• c.2899-9G>C Single submitter pyruvate carboxylase deficiency disease
• c.2899-9G>T Single submitter pyruvate carboxylase deficiency disease
• c.3147+10T>C Single submitter pyruvate carboxylase deficiency disease
• c.3147+10T>G Single submitter pyruvate carboxylase deficiency disease
• c.3147+11C>G Single submitter pyruvate carboxylase deficiency disease
• c.3147+15C>T Single submitter pyruvate carboxylase deficiency disease
• c.3147+16G>A Single submitter pyruvate carboxylase deficiency disease
• c.3147+17C>T Single submitter pyruvate carboxylase deficiency disease
• c.3147+19T>A Single submitter pyruvate carboxylase deficiency disease
• c.3147+20C>G Single submitter pyruvate carboxylase deficiency disease
• c.3147+45dup Single submitter
• c.3147+7G>C Single submitter pyruvate carboxylase deficiency disease
• c.3147+8G>T Single submitter pyruvate carboxylase deficiency disease
• c.3147+9C>T Single submitter pyruvate carboxylase deficiency disease
• c.3148-10C>T Single submitter pyruvate carboxylase deficiency disease
• c.3148-12C>T Single submitter pyruvate carboxylase deficiency disease
• c.3148-19C>G Single submitter pyruvate carboxylase deficiency disease
• c.3148-4G>A Single submitter pyruvate carboxylase deficiency disease
• c.3148-4G>C Single submitter pyruvate carboxylase deficiency disease
• c.3148-9T>A Single submitter pyruvate carboxylase deficiency disease
• c.321+10G>C Single submitter pyruvate carboxylase deficiency disease
• c.321+11T>A Single submitter pyruvate carboxylase deficiency disease
• c.321+12G>C Single submitter pyruvate carboxylase deficiency disease
• c.321+13G>A Single submitter pyruvate carboxylase deficiency disease
• c.321+19C>G Single submitter pyruvate carboxylase deficiency disease
• c.321+20T>C Single submitter pyruvate carboxylase deficiency disease
• c.321+8C>T Single submitter pyruvate carboxylase deficiency disease
• c.321+9A>G Single submitter pyruvate carboxylase deficiency disease
• c.322-11C>T Single submitter pyruvate carboxylase deficiency disease
• c.322-12C>T Single submitter pyruvate carboxylase deficiency disease
• c.322-16T>G Single submitter pyruvate carboxylase deficiency disease
• c.322-17C>T Single submitter pyruvate carboxylase deficiency disease
• c.322-4G>T Single submitter pyruvate carboxylase deficiency disease
• c.322-8A>G Single submitter pyruvate carboxylase deficiency disease
• c.3288+10C>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+11C>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+12C>G Single submitter pyruvate carboxylase deficiency disease
• c.3288+13C>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+14C>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+16G>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+16G>C Single submitter
• c.3288+17G>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+8C>T Single submitter pyruvate carboxylase deficiency disease
• c.3288+9T>A Single submitter pyruvate carboxylase deficiency disease
• c.3289-10G>A Single submitter pyruvate carboxylase deficiency disease
• c.3289-10G>T Single submitter pyruvate carboxylase deficiency disease
• c.3289-11T>C Single submitter pyruvate carboxylase deficiency disease
• c.3289-12C>T Single submitter pyruvate carboxylase deficiency disease
• c.3289-17C>T Single submitter pyruvate carboxylase deficiency disease
• c.3289-20C>T Single submitter pyruvate carboxylase deficiency disease
• c.3289-23_3289-20dup Single submitter pyruvate carboxylase deficiency disease
• c.3289-8del Single submitter pyruvate carboxylase deficiency disease
• c.487+11C>A Single submitter pyruvate carboxylase deficiency disease
• c.487+11C>T Single submitter pyruvate carboxylase deficiency disease
• c.487+18G>A Single submitter pyruvate carboxylase deficiency disease

Uncertain significance 294

• c.1185+5_1185+8del Multiple submitters Inborn genetic diseases
• c.751+4A>G Multiple submitters pyruvate carboxylase deficiency disease
• p.Ala125Val Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala280Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala281Thr Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala384Thr Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala412Thr Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala431Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala43Thr Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala615Ser Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala929Gly Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Ala935Val Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg1158His Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg147Cys Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg288Gln Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg31His Multiple submitters Inborn genetic diseases ⚠
• p.Arg368His Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg385Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg393Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg393His Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg491Trp Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg496_Ala497del Multiple submitters pyruvate carboxylase deficiency disease
• p.Arg496Trp Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg54Trp Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg581His Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg675His Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg715Cys Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Arg77Trp Multiple submitters Inborn genetic diseases ⚠
• p.Asp1067Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp586Asn Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Asp774Asn Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Asp903Asn Multiple submitters Inborn genetic diseases ⚠
• p.Glu305Lys Multiple submitters Inborn genetic diseases ⚠
• p.Glu889Asp Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Gly1110Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly1128Ala Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Gly1155Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly188Ser Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Gly318Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly361Val Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Gly562Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly87Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly957Glu Multiple submitters Inborn genetic diseases ⚠
• p.Ile737Val Multiple submitters Inborn genetic diseases ⚠
• p.Met1012Val Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Met1095Val Multiple submitters Inborn genetic diseases ⚠
• p.Met1166Val Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Met508Ile Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Met801Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro515Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro538Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser184Cys Multiple submitters Inborn genetic diseases ⚠
• p.Thr1003Met Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Thr457Ser Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Thr611Met Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Tyr723His Multiple submitters Inborn genetic diseases ⚠
• p.Val1148Leu Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Val342Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val40Leu Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Val452Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val518Ile Multiple submitters pyruvate carboxylase deficiency disease ⚠
• p.Val710Met Multiple submitters pyruvate carboxylase deficiency disease ⚠
• c.1-4C>A Single submitter pyruvate carboxylase deficiency disease
• c.1369-8T>A Single submitter pyruvate carboxylase deficiency disease
• c.1513+14C>T Single submitter pyruvate carboxylase deficiency disease
• c.1513+6G>A Single submitter pyruvate carboxylase deficiency disease
• c.1825+3A>C Single submitter pyruvate carboxylase deficiency disease
• c.1826-13G>A Single submitter
• c.2223+4C>A Single submitter pyruvate carboxylase deficiency disease
• c.3288+5T>C Single submitter pyruvate carboxylase deficiency disease
• c.487+7A>G Single submitter pyruvate carboxylase deficiency disease
• c.488-6C>A Single submitter pyruvate carboxylase deficiency disease
• c.*101G>A Single submitter pyruvate carboxylase deficiency disease
• c.*161C>T Single submitter pyruvate carboxylase deficiency disease
• c.*185G>A Single submitter pyruvate carboxylase deficiency disease
• c.*188G>A Single submitter pyruvate carboxylase deficiency disease
• c.*203T>C Single submitter pyruvate carboxylase deficiency disease
• c.*353A>G Single submitter pyruvate carboxylase deficiency disease
• c.*43C>T Single submitter pyruvate carboxylase deficiency disease
• c.*88G>A Single submitter pyruvate carboxylase deficiency disease
• p.Ala106Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala1127Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala1132Ser Single submitter Inborn genetic diseases ⚠
• p.Ala1132Val Single submitter Inborn genetic diseases ⚠
• p.Ala162Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala227Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala22Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala25= Single submitter pyruvate carboxylase deficiency disease
• p.Ala299Thr Single submitter ⚠
• p.Ala307Thr Single submitter ⚠
• p.Ala440Ser Single submitter ⚠
• p.Ala573Gly Single submitter ⚠
• p.Ala615Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala646Gly Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala646Ser Single submitter ⚠
• p.Ala666Ser Single submitter Inborn genetic diseases ⚠
• p.Ala666Val Single submitter ⚠
• p.Ala692Val Single submitter Inborn genetic diseases ⚠
• p.Ala778Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala781Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala789Pro Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ala841Pro Single submitter Inborn genetic diseases ⚠
• p.Arg1054Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1158Cys Single submitter Inborn genetic diseases ⚠
• p.Arg137Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg137Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg147Gly Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg202Cys Single submitter Inborn genetic diseases ⚠
• p.Arg263Gly Single submitter ⚠
• p.Arg328Gly Single submitter ⚠
• p.Arg328His Single submitter ⚠
• p.Arg377Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg398Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg406His Single submitter ⚠
• p.Arg451His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg453Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg496Gln Single submitter ⚠
• p.Arg51His Single submitter ⚠
• p.Arg558Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg558Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg581Cys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg583Cys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg626Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg62Cys Single submitter ⚠
• p.Arg631Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg760Gln Single submitter Inborn genetic diseases ⚠
• p.Arg762Pro Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg88His Single submitter Inborn genetic diseases ⚠
• p.Arg928Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg964Cys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg977Gln Single submitter Inborn genetic diseases ⚠
• p.Arg977Trp Single submitter Inborn genetic diseases ⚠
• p.Arg997Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Arg997Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asn28Asp Single submitter Inborn genetic diseases ⚠
• p.Asn28Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asn636Ser Single submitter Inborn genetic diseases ⚠
• p.Asn681Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp1022Asn Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp1122His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp1172Glu Single submitter Inborn genetic diseases ⚠
• p.Asp1172Tyr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp341= Single submitter pyruvate carboxylase deficiency disease
• p.Asp543Gly Single submitter Inborn genetic diseases ⚠
• p.Asp567Glu Single submitter Inborn genetic diseases ⚠
• p.Asp761_Arg762delinsValSer Single submitter pyruvate carboxylase deficiency disease
• p.Asp761Asn Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Asp765His Single submitter ⚠
• p.Asp849Asn Single submitter ⚠
• p.Asp849Glu Single submitter Inborn genetic diseases ⚠
• p.Cys816Tyr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Cys850Tyr Single submitter ⚠
• p.Gln1083His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gln470Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gln470Glu Single submitter Inborn genetic diseases ⚠
• p.Gln899His Single submitter Inborn genetic diseases ⚠
• p.Gln919Lys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gln949Pro Single submitter ⚠
• p.Glu1046Gly Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu1176Lys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu1178Lys Single submitter Inborn genetic diseases ⚠
• p.Glu212Val Single submitter Inborn genetic diseases ⚠
• p.Glu223Gln Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu240Lys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Glu305Asp Single submitter Inborn genetic diseases ⚠
• p.Glu33Val Single submitter ⚠
• p.Glu365del Single submitter pyruvate carboxylase deficiency disease
• p.Glu896Lys Single submitter Inborn genetic diseases ⚠
• p.Gly1072Arg Single submitter Inborn genetic diseases ⚠
• p.Gly1072Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly1113Arg Single submitter Inborn genetic diseases ⚠
• p.Gly1118Arg Single submitter Inborn genetic diseases ⚠
• p.Gly188Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly354Ser Single submitter Inborn genetic diseases ⚠
• p.Gly371Trp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly402Ser Single submitter ⚠
• p.Gly549Glu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly869Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly87Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly89Ser Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly902Asp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Gly999Arg Single submitter Inborn genetic diseases ⚠
• p.Gly9Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.His350Asp Single submitter pyruvate carboxylase deficiency disease ⚠
• p.His432Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.His502Asn Single submitter Inborn genetic diseases ⚠
• p.His875Tyr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ile1112Asn Single submitter ⚠
• p.Ile1174Leu Single submitter ⚠
• p.Ile160Thr Single submitter Inborn genetic diseases ⚠
• p.Ile160Val Single submitter Inborn genetic diseases ⚠
• p.Ile37Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ile37Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ile66Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ile66Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ile86Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Leu755Pro Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu Single submitter pyruvate carboxylase deficiency disease
• p.Leu904del Single submitter pyruvate carboxylase deficiency disease
• p.Leu968Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Leu97Met Single submitter Inborn genetic diseases ⚠
• p.Lys1021Arg Single submitter Inborn genetic diseases ⚠
• p.Lys1021Asn Single submitter Inborn genetic diseases ⚠
• p.Lys1021Glu Single submitter ⚠
• p.Lys1043Glu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Lys104Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Lys1061Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Lys1130Asn Single submitter Inborn genetic diseases ⚠
• p.Lys152Thr Single submitter Inborn genetic diseases ⚠
• p.Lys237Thr Single submitter Inborn genetic diseases ⚠
• p.Lys667Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Lys992Asn Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met1143Ile Single submitter ⚠
• p.Met1143Thr Single submitter ⚠
• p.Met149Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met204Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met204Val Single submitter Inborn genetic diseases ⚠
• p.Met566Leu Single submitter Inborn genetic diseases ⚠
• p.Met724Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met743Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met783Thr Single submitter Inborn genetic diseases ⚠
• p.Met801Thr Single submitter Inborn genetic diseases ⚠
• p.Met828Val Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Met881Val Single submitter Inborn genetic diseases ⚠
• p.Phe1023Leu Single submitter ⚠
• p.Phe602Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Phe832Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Phe832Leu Single submitter Inborn genetic diseases ⚠
• p.Phe848Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro1115Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro141Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro168Ser Single submitter Inborn genetic diseases ⚠
• p.Pro173Ala Single submitter Inborn genetic diseases ⚠
• p.Pro285Ala Single submitter ⚠
• p.Pro358Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro492Thr Single submitter Inborn genetic diseases ⚠
• p.Pro533Ser Single submitter Inborn genetic diseases ⚠
• p.Pro550Ser Single submitter Inborn genetic diseases ⚠
• p.Pro561Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro764Ser Single submitter Inborn genetic diseases ⚠
• p.Pro808His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Pro867Leu Single submitter Inborn genetic diseases ⚠
• p.Pro983Leu Single submitter Inborn genetic diseases ⚠
• p.Ser26Phe Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser327Thr Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser68Phe Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser714Arg Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser757Arg Single submitter Inborn genetic diseases ⚠
• p.Ser835Ile Single submitter Inborn genetic diseases ⚠
• p.Ser856Cys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Ser880Gly Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr391Ala Single submitter Inborn genetic diseases ⚠
• p.Thr475Ser Single submitter Inborn genetic diseases ⚠
• p.Thr525Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr568Met Single submitter Inborn genetic diseases ⚠
• p.Thr707Met Single submitter ⚠
• p.Thr716Ile Single submitter Inborn genetic diseases ⚠
• p.Thr72Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Thr753Ile Single submitter Inborn genetic diseases ⚠
• p.Tyr304Cys Single submitter ⚠
• p.Tyr722His Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Tyr894Cys Single submitter Inborn genetic diseases ⚠
• p.Tyr951Cys Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val1002Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val111Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val1160Ile Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val274Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val310Met Single submitter Inborn genetic diseases ⚠
• p.Val351Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val378Phe Single submitter Inborn genetic diseases ⚠
• p.Val658Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val676Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val699Met Single submitter Inborn genetic diseases ⚠
• p.Val731Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val731Met Single submitter Inborn genetic diseases ⚠
• p.Val780Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val794Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val831Ala Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val861Met Single submitter ⚠
• p.Val895Met Single submitter ⚠
• p.Val914Met Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val922Met Single submitter Inborn genetic diseases ⚠
• p.Val944Leu Single submitter pyruvate carboxylase deficiency disease ⚠
• p.Val944Met Single submitter Inborn genetic diseases ⚠
• p.Val974Met Single submitter Inborn genetic diseases ⚠
• c.1-35661G>T No assertion criteria pyruvate carboxylase deficiency disease
• p.Ala307Val No assertion criteria ⚠
• p.Ala744Val No assertion criteria ⚠
• p.Asn409del No assertion criteria pyruvate carboxylase deficiency disease
• p.Gly869_Gln870dup No assertion criteria pyruvate carboxylase deficiency disease
• p.His506Pro No assertion criteria ⚠
• p.Ile905del No assertion criteria pyruvate carboxylase deficiency disease
• p.Lys992del No assertion criteria pyruvate carboxylase deficiency disease
• p.Phe1078del No assertion criteria pyruvate carboxylase deficiency disease