GCDH — 890 ClinVar variants

Pathogenic 107

• c.1243+1G>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.1244-2A>C Multiple submitters GCDH-related disorder
• c.127+1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.271+1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.505+1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.853-2A>G Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.91+5G>T Multiple submitters BLOOD GROUP--LUTHERAN INHIBITOR
• p.Ala293Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala298Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala349Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala378Val Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala421Val Multiple submitters GCDH-related disorder
• p.Arg128Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg161Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg227Pro Multiple submitters GCDH-related disorder
• p.Arg257Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg386Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg88Cys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Asn392fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln160Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln321Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln333Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln76Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu181fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu365Lys Multiple submitters GCDH-related disorder
• p.Gly136Cys Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly178Arg Multiple submitters Inborn genetic diseases
• p.Gly354Ser Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly390Ala Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly390Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu283fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Met405fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Pro248Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser139Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser259Pro Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp225Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Tyr113His Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Tyr413Ter Multiple submitters GCDH-related disorder
• p.Tyr74fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Val400Met Multiple submitters GCDH-related disorder
• c.1208_1243+718del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1244-11A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.428_957-39del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-1G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala280fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala293Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala382fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala404Gly Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg294Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg383fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg402Gly Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn373fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp220Tyr Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp380fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp52fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Cys308fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Cys375fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln160del Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln314Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln330Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln333Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln37fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln37Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu102fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu172Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu181Gly Single submitter ⚠
• p.Glu273fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu31Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu64Asp Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly112Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly117Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly14fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly156Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly175fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly175Ser Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly185Glu Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly279fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly288fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly33fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly354Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly354Cys Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His403Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His403fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile250fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile394Met Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu221fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu238Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu302Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu84fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys357fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met149Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Phe92Cys Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser246fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser368Tyr Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr123His Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr164Asn Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr164fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr315Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr413Cys Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr74Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val224Gly Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln144Pro No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Gln352Ter No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Glu414Ter No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Gly244fs No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Ile152Met No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Met266delinsLeuTer No assertion criteria glutaryl-CoA dehydrogenase deficiency

Pathogenic/Likely pathogenic 91

• c.1082+2T>C Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.1244-1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.127+1G>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.636-1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.636-4_639del Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.852+1del Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.91+5G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala195Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala219Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala312fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala86Gly Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg128Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg132Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg138Lys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg161Gln Multiple submitters GCDH-related disorder ⚠
• p.Arg234Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg257Trp Multiple submitters GCDH-related disorder
• p.Arg294Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg313Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg313Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg355Cys Multiple submitters GCDH-related disorder ⚠
• p.Arg355His Multiple submitters Glutaric acidaemia I newborn screening follow up ⚠
• p.Arg372Lys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg383Cys Multiple submitters Inborn genetic diseases
• p.Arg383His Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg386Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg386Gly Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg402Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg402Trp Multiple submitters GCDH-related disorder
• p.Arg88His Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg88Ser Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg94Gln Multiple submitters GCDH-related disorder ⚠
• p.Arg94Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn291Lys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Asn392Ser Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asp187Glu Multiple submitters GCDH-related disorder
• p.Cys115fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Cys115Tyr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Cys375Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln160Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln251Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln359Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu181Gln Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu414Lys Multiple submitters Glutaric acidaemia I newborn screening follow up
• p.Glu58Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly101Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly171Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly178Glu Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly185Arg Multiple submitters GCDH-related disorder
• p.Gly268Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly390Glu Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly390Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.His403Tyr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ile110fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ile401fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ile67fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu130Pro Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu179Val Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu283Pro Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Lys334Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Met100Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met191Thr Multiple submitters GCDH-related disorder
• p.Met1Val Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Met266Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Met266Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met339Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met405Val Multiple submitters Inborn genetic diseases ⚠
• p.Phe236Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro278Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser139Trp Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser255Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser255Pro Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser255Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser259Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser305Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr214Met Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Thr344Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr429Met Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp212Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp299Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp50Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp50Gly Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Trp50Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Tyr155Cys Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Tyr155His Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Tyr295His Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Tyr295Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Tyr398Cys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Val133Met Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Val148Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Val410Met Multiple submitters glutaryl-CoA dehydrogenase deficiency

Likely pathogenic 100

• c.334+1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.852+1G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Arg88Gly Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln432Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln59fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gln59Ter Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu181Lys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu90Lys Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly156Ser Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly171Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly390Val Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu179Phe Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Leu407Val Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Lys170Asn Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met263Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro217Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser184fs Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ser246Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Tyr113Cys Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• c.1082+1G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-2A>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+1G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.128-3_129del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-2A>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-2A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-2A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+1_505+8del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+5G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-3_639del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.852+1G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-1G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.91+5G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-2A>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+5G>A Single submitter
• c.957-1G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala304Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala409Val Single submitter GCDH-related disorder ⚠
• p.Ala86Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg227Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg227Gly Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg234Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg294Leu Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg372Ser Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg68Ser Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg82Cys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg88Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn215delinsThrArg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn291fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn373Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn411fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp220Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp396Asn Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Cys350Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu102Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu365Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu408Lys Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu90fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly244Cys Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly303Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly376Trp Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly425Val Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His403Gln Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His417Tyr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.His93Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ile381Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu130Met Single submitter ⚠
• p.Leu221Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu356Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu407_Asn411del Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu407Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu66del Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu66fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys111= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys361Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Lys42Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met100Thr Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met191Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met263Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met339Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met405Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro286Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro53Leu Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser142Arg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser145fs Single submitter GCDH-related disorder
• p.Ser146Tyr Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser189fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr193_Arg194insHis Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr416Ile Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr113Ter Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr413fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val133fs Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val133Gly Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val148Phe Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val400Ala Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+1G>T No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Asp387Asn No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Gly390fs No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Leu221_Phe222insTer No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Pro217fs No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Trp225Ser No assertion criteria glutaryl-CoA dehydrogenase deficiency

Conflicting classifications of pathogenicity 59

• c.1083-10C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.271+19G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.271+3G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-7C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-5T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.-35G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala298Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala304Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala316Thr Single submitter Inborn genetic diseases ⚠
• p.Ala378Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala382Thr Single submitter GCDH-related disorder ⚠
• p.Ala421Thr Single submitter GCDH-related disorder ⚠
• p.Arg132Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg13His Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg227Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg227Trp Single submitter Inborn genetic diseases ⚠
• p.Arg234Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg294Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg386Pro Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg402Pro Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg72Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg82Pro Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg94Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn292= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn373Lys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn392Lys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asp220Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Cys228Phe Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gln333Glu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu129Ala Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu397Lys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu57Lys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.His399= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile381= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu179Arg Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu309Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu340Phe Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Lys335del Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Met149Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro278Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro278Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro286Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro53Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser119Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser157= Single submitter Inborn genetic diseases
• p.Ser216Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser246= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr214= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr214Ala Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr261Ile Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr70Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Tyr123Cys Single submitter GCDH-related disorder ⚠
• p.Tyr295= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr315= Single submitter Inborn genetic diseases
• p.Val133Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Val143Ala Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Val276Leu Single submitter Inborn genetic diseases ⚠
• p.Val301Met Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg372Gly No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠

Benign 17

• c.1083-106T>C Multiple submitters
• c.128-79G>T Multiple submitters
• c.128-82T>G Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.334+121C>A Multiple submitters
• c.505+268C>T Multiple submitters
• c.505+32G>A Multiple submitters
• c.506-119G>A Multiple submitters
• c.506-121T>C Multiple submitters
• c.852+223C>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.*161G>A Multiple submitters
• c.*165A>G Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.*288G>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly391= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.334+161_334+162dup Single submitter
• c.506-194del Single submitter
• c.506-195_506-194del Single submitter
• p.Gln333= No assertion criteria glutaryl-CoA dehydrogenase deficiency

Benign/Likely benign 5

• c.127+16C>G Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.272-12G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala337= Multiple submitters Inborn genetic diseases
• p.Ala362Asp Multiple submitters Inborn genetic diseases
• p.Asp267= Multiple submitters glutaryl-CoA dehydrogenase deficiency

Likely benign 312

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

• c.1082+22C>T Multiple submitters
• c.1244-17G>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.127+8C>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.334+247G>A Multiple submitters
• c.335-14C>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.505+20G>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.506-76C>T Multiple submitters
• c.506-8G>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.636-18C>T Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.853-155G>A Multiple submitters
• c.92-14T>C Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.957-6A>C Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.*206G>A Multiple submitters
• p.Ala219= Multiple submitters Inborn genetic diseases
• p.Ala28= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala41= Multiple submitters Inborn genetic diseases
• p.Arg372= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Asn291= Multiple submitters Inborn genetic diseases
• p.Asp134= Multiple submitters Inborn genetic diseases
• p.Asp338= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Asp380= Multiple submitters Inborn genetic diseases
• p.Asp396= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Glu95= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly279= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Gly296Ser Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly300= Multiple submitters Inborn genetic diseases
• p.Gly34= Multiple submitters Inborn genetic diseases
• p.His18= Multiple submitters Inborn genetic diseases
• p.His310= Multiple submitters Inborn genetic diseases
• p.His348= Multiple submitters Inborn genetic diseases
• p.His403= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ile297= Multiple submitters Inborn genetic diseases
• p.Leu326= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Lys170= Multiple submitters Inborn genetic diseases
• p.Lys377= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Phe177= Multiple submitters Inborn genetic diseases
• p.Phe287= Multiple submitters Inborn genetic diseases
• p.Pro364= Multiple submitters Inborn genetic diseases
• p.Thr429= Multiple submitters Inborn genetic diseases
• p.Tyr197= Multiple submitters glutaryl-CoA dehydrogenase deficiency
• c.1082+10G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+11T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+12G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+14G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+20G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+7G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+8C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1082+9T>C Single submitter
• c.1083-11G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-14T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-18C>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-19C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-7C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-8A>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1083-9C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+11G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+13C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+17A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+19A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+20G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1243+303G>A Single submitter
• c.1243+9T>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1244-10T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1244-13T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1244-17_1244-16del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.1244-4C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.127+11C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.127+16C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.127+17G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.127+9C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.128-5C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.128-9_128-8dup Single submitter glutaryl-CoA dehydrogenase deficiency
• c.271+11T>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.271+16G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.271+8G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-13G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-15C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-17C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-20G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-20G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-9C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+12T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+14T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+15C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+17C>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+17C>T Single submitter
• c.334+20C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+7A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+8C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.334+8C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-10C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-13C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-18C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-5A>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-6del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.335-7C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+11G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+12_505+71del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+12C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+13C>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+14C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+15A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+19G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+7G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-10G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-13C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-13C>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-13C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-14T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-16T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-18T>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-194dup Single submitter
• c.506-19C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-4G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-7C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.506-8G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.635+10C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.635+12G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.635+19G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.635+20G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.635+7G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-14T>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-16A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-17G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-17G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-4C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-6C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-7T>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-7T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-9C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.636-9del Single submitter glutaryl-CoA dehydrogenase deficiency
• c.852+15C>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.852+18T>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-11C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-15A>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-18G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-19C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-20G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-4A>G Single submitter glutaryl-CoA dehydrogenase deficiency
• c.91+12G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.91+46G>T Single submitter
• c.92-10G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-15G>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-15G>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-18C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.92-4G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+11G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+14G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+17G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+18T>C Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-16G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-20C>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-20C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-6A>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-7C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.957-8C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.-35+17_-35+19delinsGG Single submitter
• c.-35+19C>T Single submitter
• c.-35+3A>G Single submitter
• p.Ala116= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala127= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala140= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala247= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala258= Single submitter
• p.Ala27= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala280= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala293= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala298= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala304= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala316= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala349= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala404= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala409= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg128= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg132= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg161= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg21= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg227= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg234= Single submitter
• p.Arg243= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg257= Single submitter
• p.Arg294= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg355= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg383= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg82= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn374= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asn406= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp360= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp52= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Asp69= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Cys176= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln144= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln162= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln314= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln352= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln359= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gln432= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu172= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu181= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu270= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu57= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu77= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Glu99= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly114= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly117= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly124= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly136= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly14= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly175= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly185= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly208= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly231= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly244= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly262= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly288= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly33= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly346= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly376= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly393= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly430= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly5= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His150= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His417= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His420= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.His93= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile110= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile401= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile423= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile83= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile96= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ile97= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu106= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu125= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu126= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu147= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu165= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu17= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu237= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu238= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu245= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu256= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu277= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu283= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu290= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu3= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu317= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu331= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu336= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu340= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu351= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu353= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu356= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu369= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu370= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu379= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu389= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu40= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu422= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu56= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Leu84= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys163= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys202= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys334= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys371= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Phe322= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Phe92= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Pro278= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Pro286= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Pro46= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser119= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser139= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser145= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser146= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser184= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser190= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser199= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser203= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser216= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser25= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser255= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser26= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser305= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser98= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr109= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr180= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr193= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr209= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr211= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr30= Single submitter
• p.Thr344= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr36= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr412= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr435= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr113= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr153= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr155= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr204= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr398= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Tyr413= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Val121= Single submitter glutaryl-CoA dehydrogenase deficiency

Uncertain significance 199

• c.-34-11C>A Multiple submitters glutaryl-CoA dehydrogenase deficiency
• p.Ala140Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala154Thr Multiple submitters GCDH-related disorder ⚠
• p.Ala363Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala404Thr Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn183Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn89Lys Multiple submitters Inborn genetic diseases ⚠
• p.Asp134Val Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asp318Asn Multiple submitters Inborn genetic diseases ⚠
• p.Gln144His Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gln359His Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gln39Pro Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly231Ala Multiple submitters Inborn genetic diseases ⚠
• p.Gly241Glu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.His150Tyr Multiple submitters Inborn genetic diseases ⚠
• p.His93Arg Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ile250Thr Multiple submitters ⚠
• p.Ile343Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu173Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu277Phe Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu347Phe Multiple submitters Inborn genetic diseases ⚠
• p.Lys334Asn Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met100Leu Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met366Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met80Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro81Arg Multiple submitters Inborn genetic diseases ⚠
• p.Ser38Arg Multiple submitters Inborn genetic diseases ⚠
• p.Thr109Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr73Ile Multiple submitters glutaryl-CoA dehydrogenase deficiency ⚠
• c.1243+5_1243+7del Single submitter
• c.271+17G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.272-13G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.505+658G>T Single submitter
• c.852+5G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.853-33G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.956+3G>A Single submitter Inborn genetic diseases
• c.-49G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.*101G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.*307G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• c.*61C>T Single submitter glutaryl-CoA dehydrogenase deficiency
• c.*70G>A Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala122= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala127Val Single submitter ⚠
• p.Ala247Gly Single submitter Inborn genetic diseases ⚠
• p.Ala280Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala304Gly Single submitter ⚠
• p.Ala362Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala378= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ala41Val Single submitter ⚠
• p.Arg128Gly Single submitter ⚠
• p.Arg128Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg132Pro Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg243Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg243Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg249Ser Single submitter ⚠
• p.Arg257Leu Single submitter
• p.Arg294Gly Single submitter ⚠
• p.Arg319= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg328Trp Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Arg45Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg72Cys Single submitter ⚠
• p.Arg78Lys Single submitter Inborn genetic diseases ⚠
• p.Arg82Gly Single submitter ⚠
• p.Asn207Ser Single submitter Inborn genetic diseases ⚠
• p.Asn215Asp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn215Ser Single submitter ⚠
• p.Asn374Asp Single submitter ⚠
• p.Asn406Asp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn406Lys Single submitter ⚠
• p.Asn87Ser Single submitter Inborn genetic diseases ⚠
• p.Asp187Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asp230Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asp360Tyr Single submitter ⚠
• p.Cys176Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Cys176Tyr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Cys308Tyr Single submitter ⚠
• p.Cys375Tyr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Cys75Ser Single submitter Inborn genetic diseases ⚠
• p.Gln321Lys Single submitter ⚠
• p.Gln76Arg Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu102Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu131Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu158Asp Single submitter ⚠
• p.Glu158Lys Single submitter ⚠
• p.Glu172Gly Single submitter Inborn genetic diseases ⚠
• p.Glu239Lys Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu414Asp Single submitter ⚠
• p.Glu95Gln Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu99Ala Single submitter ⚠
• p.Glu99Gln Single submitter ⚠
• p.Glu99Gly Single submitter Inborn genetic diseases ⚠
• p.Gly101Glu Single submitter ⚠
• p.Gly104Ala Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly107Ser Single submitter ⚠
• p.Gly112Val Single submitter Inborn genetic diseases ⚠
• p.Gly124Val Single submitter ⚠
• p.Gly175Asp Single submitter ⚠
• p.Gly185Val Single submitter ⚠
• p.Gly231Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly252= Single submitter
• p.Gly284Ala Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly285Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly288Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly346Ser Single submitter ⚠
• p.Gly34Glu Single submitter Inborn genetic diseases ⚠
• p.Gly354_Arg355del Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Gly376Glu Single submitter ⚠
• p.Gly425Glu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly5Asp Single submitter ⚠
• p.His150Arg Single submitter ⚠
• p.His310Tyr Single submitter ⚠
• p.Ile110Val Single submitter Inborn genetic diseases ⚠
• p.Ile250Phe Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ile381Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu11Pro Single submitter Inborn genetic diseases ⚠
• p.Leu147Phe Single submitter ⚠
• p.Leu20His Single submitter ⚠
• p.Leu283Gln Single submitter ⚠
• p.Leu317Phe Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu331Pro Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu345Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu356Val Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu370Pro Single submitter ⚠
• p.Leu424Pro Single submitter ⚠
• p.Leu54Pro Single submitter GCDH-related disorder ⚠
• p.Lys170Glu Single submitter ⚠
• p.Lys210Asn Single submitter ⚠
• p.Lys253= Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Lys335Gln Single submitter GCDH-related disorder ⚠
• p.Lys377Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met191Leu Single submitter ⚠
• p.Met366Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Phe177Leu Single submitter ⚠
• p.Phe222Ser Single submitter ⚠
• p.Phe287Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Phe307Leu Single submitter ⚠
• p.Pro81Leu Single submitter ⚠
• p.Ser135Gly Single submitter ⚠
• p.Ser145Ala Single submitter ⚠
• p.Ser157_Glu158delinsArg Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Ser157Arg Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser184Gly Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser189Thr Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser199Leu Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser255Trp Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser25Leu Single submitter Inborn genetic diseases ⚠
• p.Ter439ValextTer? Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr180Ile Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr193Ile Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr193Pro Single submitter glutaryl-CoA dehydrogenase deficiency
• p.Thr205Asn Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr205Ile Single submitter Inborn genetic diseases ⚠
• p.Thr311Arg Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr341Ser Single submitter glutaryl-CoA dehydrogenase deficiency ⚠
• p.Thr344Ser Single submitter Inborn genetic diseases ⚠
• p.Tyr153Cys Single submitter Inborn genetic diseases ⚠
• p.Val224Ala Single submitter ⚠
• p.Val55Leu Single submitter ⚠
• c.127+5G>A No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.635+6G>A No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.636-2dup No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.636-5C>T No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.852+224A>G No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.957-117C>T No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.957-4G>T No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.*182AGA[1] No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.*331T>C No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.*332C>A No assertion criteria glutaryl-CoA dehydrogenase deficiency
• c.*340G>A No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Ala122Val No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ala127_Leu130del No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Ala385Thr No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Arg132Gly No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Asn215= No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Gln352Lys No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gln37His No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gln51Lys No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Glu273= No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Gly14Arg No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly244Ser No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly252Cys No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Gly288Ala No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.His196Arg No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.His348Gln No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Leu20del No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Met191Val No assertion criteria ⚠
• p.Met218Val No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met266Ile No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met320Leu No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Met366Lys No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Phe434Leu No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro151Ser No assertion criteria ⚠
• p.Pro166Thr No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Pro325= No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Ser145Phe No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Ser186Thr No assertion criteria ⚠
• p.Ser26del No assertion criteria glutaryl-CoA dehydrogenase deficiency
• p.Val143Ile No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠
• p.Val223Ile No assertion criteria glutaryl-CoA dehydrogenase deficiency ⚠