ClinVar for MedGen (Select 6217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335960	NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly)	BCKDHB (R113G +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
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 3247645	NC_000001.10:g.(?_100661892)_(100681288_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247644	NC_000001.11:g.(?_100240741)_(100240904_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247643	NC_000001.10:g.(?_100661811)_(100661998_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247642	NC_000001.10:g.(?_100715306)_(100715376_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245955	NC_000006.11:g.(?_80982832)_(81053521_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245954	NC_000006.11:g.(?_80910631)_(80912949_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245953	NC_000006.11:g.(?_80837244)_(80838966_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245952	NC_000006.11:g.(?_80816411)_(80912949_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245951	NC_000006.11:g.(?_80816411)_(80837361_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245950	NC_000006.11:g.(?_81053361)_(81053521_?)del	BCKDHB	Deletion	Maple syrup urine disease	GPathogenic
Select item 3245949	NC_000006.11:g.(?_79650410)_(81053521_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	GPathogenic
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 3022645	NM_001918.5(DBT):c.1282-13T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3022597	NM_001918.5(DBT):c.1017+15G>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3021060	NM_001918.5(DBT):c.772+19A>G	DBT	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 3018334	NM_183050.4(BCKDHB):c.634-16A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3018103	NM_183050.4(BCKDHB):c.634-13T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3018102	NM_183050.4(BCKDHB):c.634-14del	BCKDHB	Deletion (intron variant)	Maple syrup urine disease	GBenign
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 3016065	NM_001918.5(DBT):c.849C>T (p.Asp283=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
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 3012642	NM_001918.5(DBT):c.903T>C (p.Arg301=)	DBT	Single nucleotide variant (synonymous variant +1 more)	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 3009247	NM_001918.5(DBT):c.783del (p.Ala262fs)	DBT (A262fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 3006383	NM_183050.4(BCKDHB):c.343+17A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3006299	NM_001918.5(DBT):c.773-14T>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3005783	NM_001918.5(DBT):c.876A>G (p.Glu292=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 3004088	NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)	BCKDHB (D311V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GPathogenic
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 3001890	NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	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 3000411	NM_183050.4(BCKDHB):c.743-15C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3000410	NM_001918.5(DBT):c.1210-12T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2999875	NM_001918.5(DBT):c.528A>G (p.Ala176=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	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 2998388	NM_183050.4(BCKDHB):c.274+13T>C	BCKDHB	Single nucleotide variant (non-coding transcript variant +1 more)	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 2994495	NM_183050.4(BCKDHB):c.634-4G>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2994195	NM_183050.4(BCKDHB):c.478-17T>C	BCKDHB	Single nucleotide variant (intron 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 2993405	NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2992492	NM_183050.4(BCKDHB):c.841-1G>T	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
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 2989842	NM_183050.4(BCKDHB):c.274+8T>C	BCKDHB	Single nucleotide variant (intron variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2989113	NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2988581	NM_001918.5(DBT):c.42G>C (p.Ala14=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2988460	NM_001918.5(DBT):c.501G>A (p.Lys167=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2987726	NM_183050.4(BCKDHB):c.1039-17C>A	BCKDHB	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 2983436	NM_001918.5(DBT):c.243T>G (p.Val81=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	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 2982268	NM_183050.4(BCKDHB):c.75del (p.Leu26fs)	BCKDHB (L26fs)	Deletion (frameshift variant +3 more)	Maple syrup urine disease	GPathogenic
Select item 2980019	NM_001918.5(DBT):c.1282-10_1282-9dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2979256	NM_001918.5(DBT):c.645T>G (p.Ala215=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2978650	NM_183050.4(BCKDHB):c.478-16T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2977697	NM_001918.5(DBT):c.1018-17A>G	DBT	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 2971936	NM_183050.4(BCKDHB):c.840+20A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2971894	NM_001918.5(DBT):c.556-14A>G	DBT	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 2969992	NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2969955	NM_183050.4(BCKDHB):c.951+11A>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2969317	NM_183050.4(BCKDHB):c.478-13_478-10del	BCKDHB	Microsatellite (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2967881	NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2967284	NM_183050.4(BCKDHB):c.478-15C>G	BCKDHB	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 2959458	NM_001918.5(DBT):c.1281+8_1281+20del	DBT	Deletion (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 2955837	NM_183050.4(BCKDHB):c.840+15dup	BCKDHB	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2955105	NM_001918.5(DBT):c.45G>T (p.Gly15=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
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 2920019	NM_183050.4(BCKDHB):c.743-19T>C	BCKDHB	Single nucleotide variant (intron 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 2919327	NM_001918.5(DBT):c.772+8TAA[2]	DBT	Microsatellite (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2918262	NM_001918.5(DBT):c.913C>T (p.Leu305Phe)	DBT (L305F +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2918041	NM_001918.5(DBT):c.1282-18T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2917683	NM_183050.4(BCKDHB):c.477+19C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign

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