ClinVar for Gene (Select 1737) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 343

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272200	NM_001931.5(DLAT):c.235G>T (p.Gly79Trp)	DLAT (G79W +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3272199	NM_001931.5(DLAT):c.1933A>G (p.Met645Val)	DLAT, PIH1D2 (M518V +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272198	NM_001931.5(DLAT):c.1426G>A (p.Val476Ile)	DLAT (V322I +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272197	NM_001931.5(DLAT):c.20G>T (p.Arg7Leu)	DLAT (R7L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3272196	NM_001931.5(DLAT):c.523G>C (p.Ala175Pro)	DLAT (A175P +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3272195	NM_001931.5(DLAT):c.1096G>A (p.Val366Ile)	DLAT (V261I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3234969	NM_001931.5(DLAT):c.476del (p.Ile159fs)	DLAT (I103fs +4 more)	Deletion (frameshift variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely pathogenic
Select item 3082663	NM_001931.5(DLAT):c.926C>T (p.Thr309Ile)	DLAT (T182I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082662	NM_001931.5(DLAT):c.1430A>G (p.Asn477Ser)	DLAT (N384S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082661	NM_001931.5(DLAT):c.1412G>T (p.Arg471Ile)	DLAT (R330I +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082660	NM_001931.5(DLAT):c.1401A>G (p.Ile467Met)	DLAT (I340M +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3082658	NM_001931.5(DLAT):c.1089G>C (p.Lys363Asn)	DLAT (K363N +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082657	NM_001931.5(DLAT):c.107C>G (p.Ser36Trp)	DLAT (S36W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3068980	NM_001931.5(DLAT):c.1515A>C (p.Gln505His)	PIH1D2, DLAT (Q351H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3033454	NM_001931.5(DLAT):c.1677+9T>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	DLAT-related disorder	GLikely benign
Select item 3020868	NM_001931.5(DLAT):c.810T>G (p.Gly270=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2986479	NM_001931.5(DLAT):c.1353T>C (p.Asp451=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2961729	NM_001931.5(DLAT):c.957A>G (p.Pro319=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2917833	NM_001931.5(DLAT):c.660+19G>C	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2916183	NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)	DLAT (Q190* +4 more)	Single nucleotide variant (nonsense +2 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2912903	NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)	DLAT (T49I)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2902631	NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)	DLAT (A198T +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2902164	NM_001931.5(DLAT):c.9C>T (p.Arg3=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2901662	NM_001931.5(DLAT):c.735G>A (p.Lys245=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2883921	NM_001931.5(DLAT):c.891G>A (p.Glu297=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2880716	NM_001931.5(DLAT):c.976-13T>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2876111	NM_001931.5(DLAT):c.1197+11T>A	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2847989	NM_001931.5(DLAT):c.1399-20A>C	DLAT	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2804546	NM_001931.5(DLAT):c.1695C>A (p.Ile565=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2793499	NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)	DLAT (R281* +8 more)	Single nucleotide variant (nonsense +2 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2782037	NM_001931.5(DLAT):c.381+1G>T	DLAT	Single nucleotide variant (splice donor variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely pathogenic
Select item 2778456	NM_001931.5(DLAT):c.723dup (p.Val242fs)	DLAT (V231fs +5 more)	Duplication (frameshift variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2764118	NM_001931.5(DLAT):c.802del (p.Glu268fs)	DLAT (E141fs +6 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2763842	NM_001931.5(DLAT):c.279+18C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2759792	NM_001931.5(DLAT):c.1291-8G>C	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2747232	NM_001931.5(DLAT):c.1515-13dup	DLAT, PIH1D2	Duplication (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 2739561	NM_001931.5(DLAT):c.629C>T (p.Ala210Val)	DLAT (A199V +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2722467	NM_001931.5(DLAT):c.507-16T>A	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2721239	NM_001931.5(DLAT):c.486C>G (p.Ile162Met)	DLAT (I120M +4 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2713767	NM_001931.5(DLAT):c.270G>C (p.Pro90=)	DLAT (A77P)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 2703744	NM_001931.5(DLAT):c.382-19C>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2663016	NM_001931.5(DLAT):c.757G>T (p.Ala253Ser)	DLAT (A126S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2642370	NM_001931.5(DLAT):c.477C>T (p.Ile159=)	DLAT (S4L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2642369	NM_001931.5(DLAT):c.231T>C (p.Leu77=)	DLAT (F64L)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2606927	NM_001931.5(DLAT):c.268C>G (p.Pro90Ala)	DLAT (P76R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2589372	NM_001931.5(DLAT):c.1774G>A (p.Ala592Thr)	DLAT, PIH1D2 (A487T +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582372	NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)	DLAT (T185I +7 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2548415	NM_001931.5(DLAT):c.481G>A (p.Ala161Thr)	DLAT (A119T +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2508590	NM_001931.5(DLAT):c.658C>G (p.Gln220Glu)	DLAT (Q178E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2482267	NM_001931.5(DLAT):c.979G>T (p.Ala327Ser)	DLAT (A271S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474034	NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	DLAT, PIH1D2 (H389N +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446262	NM_001931.5(DLAT):c.428G>T (p.Cys143Phe)	DLAT (C101F +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2443631	NM_001931.5(DLAT):c.524C>G (p.Ala175Gly)	DLAT (A119G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2440799	NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)	DLAT, PIH1D2 (I377V +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2440798	NM_001931.5(DLAT):c.900A>G (p.Ile300Met)	DLAT (I146M +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2440797	NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)	DLAT (P89T +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2426878	NC_000011.9:g.(?_111657121)_(111922093_?)del	ALG9, C11orf52 +6 more	Deletion	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424324	NC_000011.9:g.(?_111896197)_(111899689_?)del	DLAT	Deletion	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	BCO2, ALG9 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 2403478	NM_001931.5(DLAT):c.1045G>C (p.Ala349Pro)	DLAT (A195P +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370297	NM_001082619.2(PIH1D2):c.839C>T (p.Ala280Val)	DLAT, PIH1D2 (A280V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342392	NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	DLAT, PIH1D2 (V572F +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330340	NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	DLAT, PIH1D2 (R467W +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327344	NM_001931.5(DLAT):c.280G>C (p.Val94Leu)	DLAT (V38L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2324405	NM_001931.5(DLAT):c.412G>A (p.Glu138Lys)	DLAT (E127K +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2296693	NM_001931.5(DLAT):c.1208C>G (p.Ala403Gly)	DLAT (A298G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289838	NM_001931.5(DLAT):c.131G>T (p.Arg44Leu)	DLAT (R44L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2265347	NM_001931.5(DLAT):c.1486T>G (p.Ser496Ala)	DLAT (S403A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238101	NM_001931.5(DLAT):c.1351G>C (p.Asp451His)	DLAT (D358H +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2201490	NM_001931.5(DLAT):c.1677+21_1677+24del	DLAT, PIH1D2	Deletion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2196317	NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	DLAT (E138* +3 more)	Single nucleotide variant (nonsense +3 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 2189606	NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)	DLAT (G264D +8 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2189345	NM_001931.5(DLAT):c.1677+9T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2185743	NM_001931.5(DLAT):c.856C>G (p.Leu286Val)	DLAT (L275V +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2179322	NM_001931.5(DLAT):c.1291-10T>C	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2160379	NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)	DLAT (P63L)	Single nucleotide variant (missense variant +4 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2151891	NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)	DLAT (S160L +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GUncertain significance
Select item 2151252	NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)	DLAT (G118R +3 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GUncertain significance
Select item 2149923	NM_001931.5(DLAT):c.1515-7T>A	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2147473	NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)	DLAT (T177N +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2145626	NM_001931.5(DLAT):c.1851T>C (p.Ser617=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2145270	NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)	DLAT	Deletion (inframe_deletion +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GUncertain significance
Select item 2140919	NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)	DLAT	Duplication (inframe_insertion +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2134623	NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)	DLAT (T408A +11 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2120184	NM_001931.5(DLAT):c.1130-6T>G	DLAT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2096432	NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)	DLAT (A57S +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2092683	NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)	DLAT (S298I +8 more)	Indel (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2087717	NM_001931.5(DLAT):c.975+4G>A	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2085343	NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)	DLAT (V306L +8 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2085130	NM_001931.5(DLAT):c.1146T>A (p.Gly382=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2074455	NM_001931.5(DLAT):c.489C>T (p.Ile163=)	DLAT (S8F)	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2072269	NM_001931.5(DLAT):c.382-16C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2069549	NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)	DLAT (G201D +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2058612	NM_001931.5(DLAT):c.1287T>G (p.Arg429=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2047177	NM_001931.5(DLAT):c.279+18dup	DLAT	Duplication (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 2043362	NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)	DLAT (T219A +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance

<< First< Prev

Page of 4