ClinVar for Gene (Select 593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366431	NM_000709.4(BCKDHA):c.772T>C (p.Cys258Arg)	BCKDHA (C258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260623	NM_000709.4(BCKDHA):c.856G>A (p.Ala286Thr)	BCKDHA (A286T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260622	NM_000709.4(BCKDHA):c.686A>G (p.Asn229Ser)	BCKDHA (N229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248405	NC_000019.9:g.(?_41928059)_(41930736_?)del	BCKDHA	Deletion	Maple syrup urine disease	GPathogenic
Select item 3248404	NC_000019.9:g.(?_41925020)_(41929094_?)del	BCKDHA	Deletion	Maple syrup urine disease	GPathogenic
Select item 3248403	NC_000019.9:g.(?_41916522)_(41932683_?)del	B3GNT8, BCKDHA	Deletion	Maple syrup urine disease	GPathogenic
Select item 3240917	NM_000709.4(BCKDHA):c.1032_1035del (p.Tyr345fs)	BCKDHA (Y344fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240916	NM_000709.4(BCKDHA):c.118dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240915	NM_000709.4(BCKDHA):c.116_117insA (p.Arg40fs)	BCKDHA (R40fs)	Insertion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240914	NM_000709.4(BCKDHA):c.131_133dup (p.Phe45Ter)	BCKDHA (F45*)	Duplication (nonsense)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240913	NM_000709.4(BCKDHA):c.673del (p.Arg225fs)	BCKDHA (R225fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240912	NM_000709.4(BCKDHA):c.376-2A>C	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3232228	NM_000709.4(BCKDHA):c.841G>A (p.Gly281Ser)	BCKDHA (G281S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133366	NM_000709.4(BCKDHA):c.1289A>C (p.His430Pro)	BCKDHA (H430P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064967	NM_000709.4(BCKDHA):c.968C>A (p.Pro323His)	BCKDHA (P322H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A	GUncertain significance
Select item 3064557	NM_000709.4(BCKDHA):c.1137_1165del (p.Lys380fs)	BCKDHA (K379fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GUncertain significance
Select item 3023643	NM_000709.4(BCKDHA):c.376-12C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3019442	NM_000709.4(BCKDHA):c.996-8C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3018889	NM_000709.4(BCKDHA):c.996-11C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3017458	NM_000709.4(BCKDHA):c.995+17C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3017455	NM_000709.4(BCKDHA):c.995+18dup	BCKDHA	Duplication (intron variant)	Maple syrup urine disease	GBenign
Select item 3015667	NM_000709.4(BCKDHA):c.853+20C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3015144	NM_000709.4(BCKDHA):c.485-19T>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3010617	NM_000709.4(BCKDHA):c.995+16C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3003112	NM_000709.4(BCKDHA):c.357C>T (p.Leu119=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 3002537	NM_000709.4(BCKDHA):c.109-19C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3002398	NM_000709.4(BCKDHA):c.288+11G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3002225	NM_000709.4(BCKDHA):c.376-13T>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3001639	NM_000709.4(BCKDHA):c.646+20A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2998759	NM_000709.4(BCKDHA):c.84T>G (p.Pro28=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2998154	NM_000709.4(BCKDHA):c.288+16C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2996232	NM_000709.4(BCKDHA):c.996-13T>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2995937	NM_000709.4(BCKDHA):c.1311C>T (p.His437=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2994700	NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2994165	NM_000709.4(BCKDHA):c.108+15C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2994055	NM_000709.4(BCKDHA):c.484+13G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2993822	NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2991507	NM_000709.4(BCKDHA):c.647-19A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2987399	NM_000709.4(BCKDHA):c.289-12C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2984610	NM_000709.4(BCKDHA):c.995+15C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2982472	NM_000709.4(BCKDHA):c.108+14C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2973319	NM_000709.4(BCKDHA):c.853+13C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2972907	NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)	BCKDHA (Q19*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 2971942	NM_000709.4(BCKDHA):c.853+12G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2971831	NM_000709.4(BCKDHA):c.995+20T>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2965132	NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)	BCKDHA (E238K)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2963956	NM_000709.4(BCKDHA):c.995+18C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2962482	NM_000709.4(BCKDHA):c.485-7C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2959716	NM_000709.4(BCKDHA):c.485-10C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2957010	NM_000709.4(BCKDHA):c.288+19C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2920335	NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2919701	NM_000709.4(BCKDHA):c.484+12C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2919417	NM_000709.4(BCKDHA):c.1167+19G>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2917290	NM_000709.4(BCKDHA):c.289-17T>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2917168	NM_000709.4(BCKDHA):c.485-13C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2910714	NM_000709.4(BCKDHA):c.1168-15C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2909617	NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)	BCKDHA (D302N +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2906456	NM_000709.4(BCKDHA):c.995+18C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2904720	NM_000709.4(BCKDHA):c.108+17C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2903194	NM_000709.4(BCKDHA):c.288+19C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2900900	NM_000709.4(BCKDHA):c.484+7C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2896558	NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)	BCKDHA (Y135fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 2891941	NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)	BCKDHA (V232I)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 2887780	NM_000709.4(BCKDHA):c.288+15C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2887274	NM_000709.4(BCKDHA):c.1209C>G (p.Pro403=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2885668	NM_000709.4(BCKDHA):c.289-20A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2885516	NM_000709.4(BCKDHA):c.289-7C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2884953	NM_000709.4(BCKDHA):c.484+18T>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2883367	NM_000709.4(BCKDHA):c.288+19C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2878806	NM_000709.4(BCKDHA):c.198A>G (p.Glu66=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2874506	NM_000709.4(BCKDHA):c.111C>T (p.His37=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2873436	NM_000709.4(BCKDHA):c.646+13G>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2871398	NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2864513	NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2864507	NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2858789	NM_000709.4(BCKDHA):c.289-8A>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2858755	NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2858027	NM_000709.4(BCKDHA):c.375+17C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2857383	NM_000709.4(BCKDHA):c.996-21_996-14del	BCKDHA	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2857046	NM_000709.4(BCKDHA):c.1167+11C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2855950	NM_000709.4(BCKDHA):c.375+16A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2855085	NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2845912	NM_000709.4(BCKDHA):c.416del (p.Gly139fs)	BCKDHA (G139fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 2844691	NM_000709.4(BCKDHA):c.183T>C (p.Phe61=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2841446	NM_000709.4(BCKDHA):c.375+2T>G	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2838744	NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2837813	NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2833450	NM_000709.4(BCKDHA):c.109-14G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2831106	NM_000709.4(BCKDHA):c.918A>C (p.Val306=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2826260	NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)	BCKDHA (Y106*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 2825676	NM_000709.4(BCKDHA):c.228C>T (p.Ile76=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2825477	NM_000709.4(BCKDHA):c.376-15C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2825195	NM_000709.4(BCKDHA):c.646+15C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2822216	NM_000709.4(BCKDHA):c.1335G>A (p.Lys445=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2819556	NM_000709.4(BCKDHA):c.1168-10G>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2819200	NM_000709.4(BCKDHA):c.342C>T (p.Thr114=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2816767	NM_000709.4(BCKDHA):c.647-10T>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2815030	NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2814673	NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)	BCKDHA (W373* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 2812209	NM_000709.4(BCKDHA):c.484+19T>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign

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