Related gene-specific medical variations for Gene (Select 389840) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 disorder	GLikely benign
Select item 2689398	NM_001001671.4(MAP3K15):c.2575G>A (p.Ala859Thr)	MAP3K15 (A859T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 disorder	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 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 1309696	NM_000284.4(PDHA1):c.*1721C>G	MAP3K15, PDHA1 (E1274D)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Pyruvate dehydrogenase E1-alpha deficiency +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)	Pyruvate dehydrogenase E1-alpha deficiency +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)	Pyruvate dehydrogenase E1-alpha deficiency +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 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)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign

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Links from Gene

Items: 45