ClinVar for Gene (Select 1629) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241278	NM_001918.5(DBT):c.939+2del	DBT	Deletion (splice donor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3241277	NM_001918.5(DBT):c.713del (p.Pro238fs)	DBT (P238fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A	GPathogenic
Select item 3241276	NM_001918.5(DBT):c.917_918delinsT (p.Ser306fs)	DBT (S125fs +1 more)	Indel (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3239660	NM_001918.5(DBT):c.176-1G>A	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3239659	NM_001918.5(DBT):c.881T>G (p.Leu294Ter)	DBT (L113* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3233387	NM_001918.5(DBT):c.1281+3A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease type 2	GUncertain significance
Select item 3233363	NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)	DBT (S244* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3080220	NM_001918.5(DBT):c.641G>A (p.Gly214Glu)	DBT (G214E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080218	NM_001918.5(DBT):c.1168G>C (p.Asp390His)	DBT (D209H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065883	NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)	DBT (S268* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3065184	NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)	DBT (N219S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3064163	NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	DBT (W10*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3032660	NM_001918.5(DBT):c.1282-8A>C	DBT	Single nucleotide variant (intron variant)	DBT-related disorder	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 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 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 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 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 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 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 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 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 2977697	NM_001918.5(DBT):c.1018-17A>G	DBT	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 2959458	NM_001918.5(DBT):c.1281+8_1281+20del	DBT	Deletion (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 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 2911129	NM_001918.5(DBT):c.176-15C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2907289	NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)	DBT (I232T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2906606	NM_001918.5(DBT):c.772+8T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2904467	NM_001918.5(DBT):c.881T>A (p.Leu294Ter)	DBT (L113* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GPathogenic
Select item 2904402	NM_001918.5(DBT):c.251+15A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2900438	NM_001918.5(DBT):c.1017+16T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2899300	NM_001918.5(DBT):c.772+17C>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2898983	NM_001918.5(DBT):c.1281+18C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2897592	NM_001918.5(DBT):c.433+13T>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2883583	NM_001918.5(DBT):c.1282-16T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2883167	NM_001918.5(DBT):c.735G>A (p.Pro245=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2881847	NM_001918.5(DBT):c.940-17C>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2875993	NM_001918.5(DBT):c.1018-15T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2874256	NM_001918.5(DBT):c.676A>G (p.Met226Val)	DBT (M226V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2873461	NM_001918.5(DBT):c.630A>G (p.Glu210=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2865341	NM_001918.5(DBT):c.1215T>C (p.Gly405=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2864454	NM_001918.5(DBT):c.52-5T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2863744	NM_001918.5(DBT):c.556-12A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2863331	NM_001918.5(DBT):c.940-9G>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2861200	NM_001918.5(DBT):c.246A>G (p.Lys82=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2858044	NM_001918.5(DBT):c.1018-4T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2853645	NM_001918.5(DBT):c.1209+9T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2852195	NM_001918.5(DBT):c.947_950del (p.Ser316fs)	DBT (S316fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2844810	NM_001918.5(DBT):c.1419C>T (p.Asn473=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2840742	NM_001918.5(DBT):c.772+7A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2836652	NM_001918.5(DBT):c.1017+1G>A	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2836218	NM_001918.5(DBT):c.1221C>T (p.Thr407=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2836139	NM_001918.5(DBT):c.175+16A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2830737	NM_001918.5(DBT):c.1017+1G>T	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2830360	NM_001918.5(DBT):c.1173T>C (p.Leu391=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2829485	NM_001918.5(DBT):c.939+7T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2827369	NM_001918.5(DBT):c.433+8A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 2826933	NM_001918.5(DBT):c.433+17A>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2822829	NM_001918.5(DBT):c.1227C>T (p.Ala409=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2822401	NM_001918.5(DBT):c.280C>T (p.Gln94Ter)	DBT (Q94*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 2820071	NM_001918.5(DBT):c.1210-12T>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2819848	NM_001918.5(DBT):c.1017+11C>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2811927	NM_001918.5(DBT):c.434-4C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2810005	NM_001918.5(DBT):c.1212T>C (p.Ile404=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2799778	NM_001918.5(DBT):c.1281+13G>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2790007	NM_001918.5(DBT):c.51+7A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2788043	NM_001918.5(DBT):c.855T>C (p.Thr285=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2783367	NM_001918.5(DBT):c.434-11C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2779291	NM_001918.5(DBT):c.666A>G (p.Lys222=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2772684	NM_001918.5(DBT):c.437C>A (p.Ser146Ter)	DBT (S146*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 2770079	NM_001918.5(DBT):c.228T>C (p.Ile76=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2768960	NM_001918.5(DBT):c.1018-2A>T	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2766435	NM_001918.5(DBT):c.894A>C (p.Ala298=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2766387	NM_001918.5(DBT):c.51+18G>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2764614	NM_001918.5(DBT):c.772+2T>G	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2763912	NM_001918.5(DBT):c.129T>G (p.Pro43=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2759896	NM_001918.5(DBT):c.258A>G (p.Val86=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2759646	NM_001918.5(DBT):c.176-15C>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2759133	NM_001918.5(DBT):c.642A>C (p.Gly214=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2757829	NM_001918.5(DBT):c.247del (p.Glu83fs)	DBT (E83fs)	Deletion (5 prime UTR variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 2757741	NM_001918.5(DBT):c.364dup (p.Tyr122fs)	DBT (Y122fs)	Duplication (5 prime UTR variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 2756098	NM_001918.5(DBT):c.84T>C (p.Asn28=)	DBT	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2755871	NM_001918.5(DBT):c.1209+9_1209+10dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2749000	NM_001918.5(DBT):c.1347A>G (p.Ser449=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2745357	NM_001918.5(DBT):c.555dup (p.Ile186fs)	DBT (I186fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2744482	NM_001918.5(DBT):c.939+13C>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2743816	NM_001918.5(DBT):c.741C>T (p.Phe247=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2743397	NM_001918.5(DBT):c.252-12T>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2743221	NM_001918.5(DBT):c.251+18A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2741596	NM_001918.5(DBT):c.1282-9dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign

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