List of variants in gene GCDH reported as uncertain significance for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.642G>A (p.Thr214=)	rs142806397	0.00170
NM_000159.4(GCDH):c.1197C>T (p.His399=)	rs139344943	0.00131
NM_000159.4(GCDH):c.471C>T (p.Ser157=)	rs146682905	0.00081
NM_000159.4(GCDH):c.738G>A (p.Ser246=)	rs188548539	0.00023
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn)	rs761135089	0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=)	rs143172809	0.00016
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)	rs370059118	0.00008
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe)	rs371654188	0.00007
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)	rs139192015	0.00006
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)	rs146363703	0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)	rs201509112	0.00005
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)	rs141456457	0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)	rs138133019	0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=)	rs1438245420	0.00003
NM_000159.4(GCDH):c.1083-10C>T	rs756372984	0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)	rs774526353	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)	rs375357230	0.00002
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)	rs549254182	0.00002
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	rs752234195	0.00001
NM_000159.4(GCDH):c.1082+8C>T	rs199627852	0.00001
NM_000159.4(GCDH):c.1088C>T (p.Ala363Val)	rs1278213620	0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)	rs1555751336	0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)	rs780408127	0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)	rs759838598	0.00001
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala)	rs1419527696	0.00001
NM_000159.4(GCDH):c.365C>T (p.Ala122Val)	rs766325846	0.00001
NM_000159.4(GCDH):c.366C>G (p.Ala122=)	rs751364711	0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	rs780976048	0.00001
NM_000159.4(GCDH):c.419C>T (p.Ala140Val)	rs762052524	0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr)	rs759415410	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)	rs1449724176	0.00001
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu)	rs769520999	0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)	rs763300541	0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	rs751742575	0.00001
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.862G>A (p.Gly288Ser)	rs774157793	0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	rs1328059662	0.00001
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)	rs764993096	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe)	rs1599617735
NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser)
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val)	rs1970708854
NM_000159.4(GCDH):c.1060_1065del (p.Gly354_Arg355del)
NM_000159.4(GCDH):c.1085C>T (p.Ala362Val)
NM_000159.4(GCDH):c.1097T>C (p.Met366Thr)
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile)	rs1599618698
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	rs1555751240
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)	rs1568429153
NM_000159.4(GCDH):c.1131A>C (p.Lys377Asn)	rs139241235
NM_000159.4(GCDH):c.1134C>T (p.Ala378=)	rs2145954932
NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)	rs398123191
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	rs778153326
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	rs1555751379
NM_000159.4(GCDH):c.240G>C (p.Met80Ile)	rs1970567585
NM_000159.4(GCDH):c.271+17G>A
NM_000159.4(GCDH):c.271+19G>A
NM_000159.4(GCDH):c.278A>G (p.His93Arg)	rs398123192
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del)	rs1555749893
NM_000159.4(GCDH):c.383G>T (p.Arg128Leu)	rs755586631
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly)	rs372429120
NM_000159.4(GCDH):c.395G>C (p.Arg132Pro)
NM_000159.4(GCDH):c.397G>A (p.Val133Met)	rs746388510
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)	rs746388510
NM_000159.4(GCDH):c.401A>T (p.Asp134Val)	rs1970604130
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.427G>A (p.Val143Ile)	rs1555749918
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	rs1555749927
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp)	rs756345321
NM_000159.4(GCDH):c.539C>T (p.Thr180Ile)
NM_000159.4(GCDH):c.548A>G (p.Asn183Ser)
NM_000159.4(GCDH):c.550A>G (p.Ser184Gly)	rs1555750471
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)	rs764774411
NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro)
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu)	rs1970669938
NM_000159.4(GCDH):c.614C>A (p.Thr205Asn)
NM_000159.4(GCDH):c.636-2dup	rs762345287
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	rs1468636851
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp)	rs1970674860
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)	rs121434373
NM_000159.4(GCDH):c.688G>A (p.Asp230Asn)	rs575325364
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser)	rs1970676051
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys)	rs1970677215
NM_000159.4(GCDH):c.728G>A (p.Arg243Gln)
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser)	rs1555750589
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe)	rs1599615059
NM_000159.4(GCDH):c.759G>A (p.Lys253=)	rs886054242
NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)	rs777494547
NM_000159.4(GCDH):c.798G>A (p.Met266Ile)	rs1555750632
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg)	rs1970695857
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe)	rs1970696752
NM_000159.4(GCDH):c.957-6A>C	rs748270195
NM_000159.4(GCDH):c.957G>A (p.Arg319=)
NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)	rs794726972

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