Related gene-specific medical variations for Gene (Select 5160) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220928	NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 3122906	NM_001001671.4(MAP3K15):c.3856C>T (p.Arg1286Trp)	MAP3K15, PDHA1 (R1286W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122905	NM_001001671.4(MAP3K15):c.3808G>T (p.Asp1270Tyr)	MAP3K15, PDHA1 (D1270Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122904	NM_001001671.4(MAP3K15):c.3793G>A (p.Gly1265Ser)	MAP3K15, PDHA1 (G1265S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122903	NM_001001671.4(MAP3K15):c.3773T>C (p.Ile1258Thr)	MAP3K15, PDHA1 (I1258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060782	NM_000284.4(PDHA1):c.1089_1092dup	MAP3K15, PDHA1	Duplication (3 prime UTR variant)	PDHA1-related condition	GLikely benign
Select item 2689673	NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)	PDHA1	Deletion (inframe_deletion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2687841	NM_000284.4(PDHA1):c.1152_1171del (p.Lys385fs)	PDHA1 (K354fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2663792	NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)	PDHA1 (W352* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2660126	NM_001001671.4(MAP3K15):c.3750G>A (p.Leu1250=)	MAP3K15, PDHA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660125	NM_000284.4(PDHA1):c.*1302G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2636120	NM_001001671.4(MAP3K15):c.3686C>G (p.Thr1229Arg)	MAP3K15, PDHA1 (T1229R)	Single nucleotide variant (missense variant +1 more)	MAP3K15-related condition	GUncertain significance
Select item 2525337	NM_001001671.4(MAP3K15):c.3906G>C (p.Arg1302Ser)	MAP3K15, PDHA1 (R1302S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2434633	NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)	PDHA1 (Q122K +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2434632	NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)	PDHA1 (K40E +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2432551	NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)	PDHA1	Microsatellite (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2432545	NM_000284.4(PDHA1):c.195dup (p.Arg66fs)	PDHA1 (R104fs +1 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2235893	NM_001001671.4(MAP3K15):c.3690G>C (p.Glu1230Asp)	MAP3K15, PDHA1 (E1230D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696606	NM_001001671.4(MAP3K15):c.3781-7G>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 1678505	NM_000284.4(PDHA1):c.*1908G>A	MAP3K15, PDHA1 (Q1238*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1324870	NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	PDHA1 (S269fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1324869	NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	PDHA1 (M198L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1323430	NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	PDHA1 (R347fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 1320311	NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)	PDHA1 (M179I +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 1320310	NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	PDHA1 (Y177* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1309696	NM_000284.4(PDHA1):c.*1721C>G	MAP3K15, PDHA1 (E1274D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1252070	NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)	PDHA1 (Y212C +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 991386	NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)	PDHA1 (N350S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 991384	NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)	PDHA1 (I190V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986990	NM_000284.4(PDHA1):c.1025_1032del (p.Val342fs)	PDHA1 (V311fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 980282	GRCh37/hg19 Xp22.13-22.12(chrX:19212948-19369492)x2	PDHA1	Copy number gain	not provided	GUncertain significance
Select item 931995	NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 931659	NM_000284.4(PDHA1):c.57+2531T>C	PDHA1	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 931363	NM_000284.4(PDHA1):c.998_1008+20dup	PDHA1	Duplication (splice donor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 914977	NM_000284.4(PDHA1):c.*1347C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 914976	NM_000284.4(PDHA1):c.*1345A>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914975	NM_000284.4(PDHA1):c.*1306G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 914974	NM_000284.4(PDHA1):c.*1297G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 914973	NM_000284.4(PDHA1):c.*1208A>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914972	NM_000284.4(PDHA1):c.*1059G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914971	NM_000284.4(PDHA1):c.*1013C>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914970	NM_000284.4(PDHA1):c.*864G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914465	NM_000284.4(PDHA1):c.*857A>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914464	NM_000284.4(PDHA1):c.*844A>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914463	NM_000284.4(PDHA1):c.*729G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 914462	NM_000284.4(PDHA1):c.*728C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914461	NM_000284.4(PDHA1):c.*707G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914460	NM_000284.4(PDHA1):c.*614G>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 914459	NM_000284.4(PDHA1):c.*575T>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914458	NM_000284.4(PDHA1):c.*549A>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913386	NM_000284.4(PDHA1):c.*1926G>C	MAP3K15, PDHA1 (P1232A)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 913385	NM_000284.4(PDHA1):c.*1779A>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 913384	NM_000284.4(PDHA1):c.*1682T>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	MAP3K15-related condition +1 more	GBenign
Select item 913343	NM_000284.4(PDHA1):c.*525C>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913342	NM_000284.4(PDHA1):c.*432C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913021	NM_000284.4(PDHA1):c.*1624T>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 913020	NM_000284.4(PDHA1):c.*1598G>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913019	NM_000284.4(PDHA1):c.*1563C>G	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913018	NM_000284.4(PDHA1):c.*1458C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 913017	NM_000284.4(PDHA1):c.*1450C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913016	NM_000284.4(PDHA1):c.*1394C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913015	NM_000284.4(PDHA1):c.*1377G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 913014	NM_000284.4(PDHA1):c.*1376C>T	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 871398	NM_000284.4(PDHA1):c.831+2T>C	PDHA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 871396	NM_000284.4(PDHA1):c.624dup (p.Asn209fs)	PDHA1 (N216fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 807882	GRCh37/hg19 Xp22.12(chrX:19362156-19377771)x4	PDHA1	Copy number gain	not provided	GUncertain significance
Select item 445325	NM_000284.4(PDHA1):c.*1193CA[1]	MAP3K15, PDHA1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 376916	NM_000284.4(PDHA1):c.*1869G>C	MAP3K15, PDHA1 (Q1251E)	Single nucleotide variant (missense variant +1 more)	MAP3K15-related condition +2 more	GBenign
Select item 154868	GRCh38/hg38 Xp22.12(chrX:19346151-19351270)x3	PDHA1	Copy number gain	See cases	GUncertain significance
Select item 152618	GRCh38/hg38 Xp22.12(chrX:19346879-19351270)x3	PDHA1	Copy number gain	See cases	GUncertain significance

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Items: 70