GCDH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891415	NM_000159.4(GCDH):c.240G>C (p.Met80Ile)	GCDH (M80I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2581550	NM_000159.4(GCDH):c.242C>T (p.Pro81Leu)	GCDH (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 641879	NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)	GCDH (P81R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1974058	NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)	GCDH (R82C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 953920	NM_000159.4(GCDH):c.245G>C (p.Arg82Pro)	GCDH (R82P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1652118	NM_000159.4(GCDH):c.246C>A (p.Arg82=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1618233	NM_000159.4(GCDH):c.249C>T (p.Ile83=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1140471	NM_000159.4(GCDH):c.250C>T (p.Leu84=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	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 2029287	NM_000159.4(GCDH):c.252G>A (p.Leu84=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2169610	NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)	GCDH (A86G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1793765	NM_000159.4(GCDH):c.260A>G (p.Asn87Ser)	GCDH (N87S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1465690	NM_000159.4(GCDH):c.262C>G (p.Arg88Gly)	GCDH (R88G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 529444	NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	GCDH (R88S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 189150	NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	GCDH (R88C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 1012927	NM_000159.4(GCDH):c.263G>A (p.Arg88His)	GCDH (R88H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 459949	NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)	GCDH (E90K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 189030	NM_000159.4(GCDH):c.271+1G>A	GCDH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235597	NM_000159.4(GCDH):c.271+3G>A	GCDH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1569985	NM_000159.4(GCDH):c.271+8G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2762344	NM_000159.4(GCDH):c.271+11T>G	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 2022202	NM_000159.4(GCDH):c.271+17G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GUncertain significance
Select item 2418783	NM_000159.4(GCDH):c.271+19G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GUncertain significance
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 1993466	NM_000159.4(GCDH):c.272-20G>C	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 2695197	NM_000159.4(GCDH):c.272-15C>T	GCDH	Single nucleotide variant (intron variant)	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 2727800	NM_000159.4(GCDH):c.272-12G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GBenign
Select item 1996479	NM_000159.4(GCDH):c.272-9C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2675878	NM_000159.4(GCDH):c.272-2A>G	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 553365	NM_000159.4(GCDH):c.272-2A>C	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1459696	NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)	GCDH (F92C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2188492	NM_000159.4(GCDH):c.276T>C (p.Phe92=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1509760	NM_000159.4(GCDH):c.278A>T (p.His93Leu)	GCDH (H93L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 92530	NM_000159.4(GCDH):c.278A>G (p.His93Arg)	GCDH (H93R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GUncertain significance
Select item 2124044	NM_000159.4(GCDH):c.279T>C (p.His93=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 459950	NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)	GCDH (R94W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 529446	NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	GCDH (R94L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 418224	NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	GCDH (R94Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2150643	NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)	GCDH (E95Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 387991	NM_000159.4(GCDH):c.285G>A (p.Glu95=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1529397	NM_000159.4(GCDH):c.288C>T (p.Ile96=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1666987	NM_000159.4(GCDH):c.291T>C (p.Ile97=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1125999	NM_000159.4(GCDH):c.294G>A (p.Ser98=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 625292	NM_000159.4(GCDH):c.296A>G (p.Glu99Gly)	GCDH (E99G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1108764	NM_000159.4(GCDH):c.297G>A (p.Glu99=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2788416	NM_000159.4(GCDH):c.304del (p.Glu102fs)	GCDH (E102fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 1011761	NM_000159.4(GCDH):c.300G>A (p.Met100Ile)	GCDH (M100I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 550735	NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	GCDH (G101R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2139480	NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)	GCDH (E102Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 984311	NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)	GCDH (E102*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2109450	NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)	GCDH (G104A)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2003744	NM_000159.4(GCDH):c.316C>T (p.Leu106=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2581398	NM_000159.4(GCDH):c.319G>A (p.Gly107Ser)	GCDH (G107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 958377	NM_000159.4(GCDH):c.325A>G (p.Thr109Ala)	GCDH (T109A)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GUncertain significance
Select item 1649180	NM_000159.4(GCDH):c.327C>G (p.Thr109=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1729815	NM_000159.4(GCDH):c.328A>G (p.Ile110Val)	GCDH (I110V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 495686	NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	GCDH (I110fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1638823	NM_000159.4(GCDH):c.330C>A (p.Ile110=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1162077	NM_000159.4(GCDH):c.330C>T (p.Ile110=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 554548	NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	GCDH (G112*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
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 1534577	NM_000159.4(GCDH):c.334+7A>G	GCDH	Single nucleotide variant (intron variant)	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 2740344	NM_000159.4(GCDH):c.334+8C>T	GCDH	Single nucleotide variant (intron variant)	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 2126716	NM_000159.4(GCDH):c.334+14T>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1594188	NM_000159.4(GCDH):c.334+15C>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 2846981	NM_000159.4(GCDH):c.334+20C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1277488	NM_000159.4(GCDH):c.334+121C>A	GCDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302868	NM_000159.4(GCDH):c.334+161_334+162dup	GCDH	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1216172	NM_000159.4(GCDH):c.334+247G>A	GCDH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2062429	NM_000159.4(GCDH):c.335-18C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 388893	NM_000159.4(GCDH):c.335-14C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +1 more	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 2750037	NM_000159.4(GCDH):c.335-10C>T	GCDH	Single nucleotide variant (intron variant)	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 1566799	NM_000159.4(GCDH):c.335-7C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2823120	NM_000159.4(GCDH):c.335-5A>C	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 557526	NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	GCDH (Y113H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1469596	NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)	GCDH (Y113C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2800084	NM_000159.4(GCDH):c.339T>C (p.Tyr113=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2675871	NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)	GCDH (Y113*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 370280	NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)	GCDH (Y113*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2101129	NM_000159.4(GCDH):c.345_349del (p.Cys115fs)	GCDH (C115fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1088610	NM_000159.4(GCDH):c.342C>T (p.Gly114=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 863301	NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	GCDH (C115Y)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2814646	NM_000159.4(GCDH):c.348T>G (p.Ala116=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2780431	NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)	GCDH (G117R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 1130306	NM_000159.4(GCDH):c.351G>A (p.Gly117=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 288248	NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	GCDH (S119L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1090369	NM_000159.4(GCDH):c.357G>A (p.Ser119=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	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 557982	NM_000159.4(GCDH):c.365C>T (p.Ala122Val)	GCDH (A122V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 1669321	NM_000159.4(GCDH):c.366C>T (p.Ala122=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1403255	NM_000159.4(GCDH):c.366C>G (p.Ala122=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GUncertain significance

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