ClinVar for Gene (Select 2639) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364463	NM_000159.4(GCDH):c.267C>G (p.Asn89Lys)	GCDH (N89K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342361	NM_000159.4(GCDH):c.919T>C (p.Phe307Leu)	GCDH (F307L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339102	NM_000159.4(GCDH):c.961C>A (p.Gln321Lys)	GCDH (Q321K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336504	NM_000159.4(GCDH):c.923G>A (p.Cys308Tyr)	GCDH (C308Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336288	NM_000159.4(GCDH):c.1119T>G (p.Asn373Lys)	GCDH (N373K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280997	NM_000159.4(GCDH):c.335G>T (p.Gly112Val)	GCDH (G112V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251744	NM_000159.4(GCDH):c.671T>C (p.Val224Ala)	GCDH (V224A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3234976	NM_000159.4(GCDH):c.178C>A (p.Leu60Met)	GCDH, LOC117125594 (L60M)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 3233788	NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)	GCDH (R402P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 3233572	NM_000159.4(GCDH):c.244C>G (p.Arg82Gly)	GCDH (R82G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233382	NM_000159.4(GCDH):c.1060G>C (p.Gly354Arg)	GCDH (G354R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 3233364	NM_000159.4(GCDH):c.644delinsCTCG (p.Asn215delinsThrArg)	GCDH	Indel (inframe_indel +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 3075893	NM_000159.4(GCDH):c.565dup (p.Ser189fs)	GCDH (S189fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 3065685	NM_000159.4(GCDH):c.235C>T (p.Leu79Phe)	GCDH, LOC117125594 (L79F)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 3064515	NM_000159.4(GCDH):c.1208A>G (p.His403Arg)	GCDH (H403R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3021030	NM_000159.4(GCDH):c.1244-13T>C	GCDH, LOC126862860 +1 more	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3019758	NM_000159.4(GCDH):c.222C>T (p.Tyr74=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 3016497	NM_000159.4(GCDH):c.1083-18C>G	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3016397	NM_000159.4(GCDH):c.92-18C>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3016259	NM_000159.4(GCDH):c.506-13C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3015902	NM_000159.4(GCDH):c.367T>C (p.Tyr123His)	GCDH (Y123H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 3011627	NM_000159.4(GCDH):c.956+18T>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3009591	NM_000159.4(GCDH):c.57C>T (p.Val19=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 3007625	NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)	GCDH, LOC117125594 (L56P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 3007308	NM_000159.4(GCDH):c.624G>A (p.Gly208=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 3005103	NM_000159.4(GCDH):c.1243+19A>G	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3004982	NM_000159.4(GCDH):c.636-7T>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3002933	NM_000159.4(GCDH):c.1244-11A>C	LOC126862860, SYCE2 +1 more	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 3000750	NM_000159.4(GCDH):c.858C>T (p.Pro286=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2996415	NM_000159.4(GCDH):c.1251T>C (p.His417=)	GCDH, LOC126862860 +1 more	Single nucleotide variant (synonymous variant +2 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2994147	NM_000159.4(GCDH):c.505+14C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2983126	NM_000159.4(GCDH):c.505+11G>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2981488	NM_000159.4(GCDH):c.445A>G (p.Met149Val)	GCDH (M149V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2978754	NM_000159.4(GCDH):c.852+18T>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2976843	NM_000159.4(GCDH):c.156C>T (p.Asp52=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2972904	NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)	GCDH (G185E)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2968381	NM_000159.4(GCDH):c.1083-14T>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2966453	NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)	GCDH (Q359*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2966396	NM_000159.4(GCDH):c.128-12dup	GCDH, LOC117125594	Duplication (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2965255	NM_000159.4(GCDH):c.506-18T>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2962262	NM_000159.4(GCDH):c.272-17C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2955780	NM_000159.4(GCDH):c.334+17C>G	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2954571	NM_000159.4(GCDH):c.1128G>A (p.Gly376=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2920379	NM_000159.4(GCDH):c.956+14G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2919343	NM_000159.4(GCDH):c.506-7C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2918619	NM_000159.4(GCDH):c.91+15G>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2918289	NM_000159.4(GCDH):c.636-17G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2918286	NM_000159.4(GCDH):c.1290A>T (p.Gly430=)	GCDH, LOC126862860 +1 more	Single nucleotide variant (synonymous variant +2 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2918235	NM_000159.4(GCDH):c.1082+20G>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2917259	NM_000159.4(GCDH):c.714G>A (p.Leu238=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2917100	NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)	GCDH (I381V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2915960	NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)	GCDH (S255P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2915679	NM_000159.4(GCDH):c.957-16G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2914997	NM_000159.4(GCDH):c.636-17G>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2914619	NM_000159.4(GCDH):c.271+16G>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2914613	NM_000159.4(GCDH):c.506-16T>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2913855	NM_000159.4(GCDH):c.506-19C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2911388	NM_000159.4(GCDH):c.1243+20G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2911019	NM_000159.4(GCDH):c.765G>T (p.Ser255=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2910966	NM_000159.4(GCDH):c.957-20C>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2910453	NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)	GCDH (S255W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2909178	NM_000159.4(GCDH):c.635+19G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2909143	NM_000159.4(GCDH):c.272-20G>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2907540	NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)	GCDH (G354C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2906270	NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)	GCDH (R402G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2905055	NM_000159.4(GCDH):c.597A>G (p.Ser199=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2904046	NM_000159.4(GCDH):c.505+12C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2903985	NM_000159.4(GCDH):c.543G>A (p.Glu181=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2896774	NM_000159.4(GCDH):c.334+8C>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2896089	NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)	GCDH (K170N)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2892258	NM_000159.4(GCDH):c.956+11G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2891970	NM_000159.4(GCDH):c.335-13C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2890010	NM_000159.4(GCDH):c.363G>A (p.Val121=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2885842	NM_000159.4(GCDH):c.127+20C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2882318	NM_000159.4(GCDH):c.272-13G>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2881073	NM_000159.4(GCDH):c.681G>A (p.Arg227=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2865578	NM_000159.4(GCDH):c.1135C>T (p.Leu379=)	GCDH	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2865577	NM_000159.4(GCDH):c.120_123del (p.Ala41fs)	GCDH, LOC117125594 (A41fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2864675	NM_000159.4(GCDH):c.878C>T (p.Ala293Val)	GCDH (A293V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2863140	NM_000159.4(GCDH):c.334+1G>A	GCDH	Single nucleotide variant (splice donor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2862906	NM_000159.4(GCDH):c.1243+9T>G	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2858475	NM_000159.4(GCDH):c.381C>T (p.Ala127=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2858220	NM_000159.4(GCDH):c.335-6del	GCDH	Deletion (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2855811	NM_000159.4(GCDH):c.251del (p.Leu84fs)	GCDH (L84fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2852523	NM_000159.4(GCDH):c.506-13C>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2847144	NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)	GCDH (D187N)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2846981	NM_000159.4(GCDH):c.334+20C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2846028	NM_000159.4(GCDH):c.505+19G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2845878	NM_000159.4(GCDH):c.138C>G (p.Pro46=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2845719	NM_000159.4(GCDH):c.1167G>T (p.Leu389=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2843655	NM_000159.4(GCDH):c.381C>G (p.Ala127=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2843207	NM_000159.4(GCDH):c.198C>T (p.Leu66=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2841714	NM_000159.4(GCDH):c.334+12T>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2841113	NM_000159.4(GCDH):c.1179G>A (p.Gly393=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2840730	NM_000159.4(GCDH):c.459T>C (p.Tyr153=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2839512	NM_000159.4(GCDH):c.1243+13C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2836787	NM_000159.4(GCDH):c.1082+12G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign

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