"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAP3K15"[ - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060782	NM_000284.4(PDHA1):c.1089_1092dup	MAP3K15, PDHA1	Duplication (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
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 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
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 3048237	NM_001001671.4(MAP3K15):c.3599_3600del (p.Glu1200fs)	MAP3K15 (E1200fs)	Microsatellite (frameshift variant)	MAP3K15-related disorder	GLikely benign
Select item 3040537	NM_001001671.4(MAP3K15):c.3567-13_3567-8del	MAP3K15	Deletion (intron variant)	MAP3K15-related disorder	GLikely benign
Select item 3048204	NM_001001671.4(MAP3K15):c.3295-4_3295-3dup	MAP3K15	Duplication (intron variant)	MAP3K15-related disorder	GLikely benign
Select item 3039349	NM_001001671.4(MAP3K15):c.3295-4_3295-3del	MAP3K15	Deletion (intron variant)	MAP3K15-related disorder	GBenign
Select item 3037357	NM_001001671.4(MAP3K15):c.2978C>T (p.Ser993Leu)	MAP3K15 (S993L)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3047385	NM_001001671.4(MAP3K15):c.2868C>T (p.Asp956=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3045401	NM_001001671.4(MAP3K15):c.2865C>T (p.Ser955=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3048709	NM_001001671.4(MAP3K15):c.2790C>T (p.Val930=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3035324	NM_001001671.4(MAP3K15):c.2627C>G (p.Ala876Gly)	MAP3K15 (A876G)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 2255530	NM_001001671.4(MAP3K15):c.2549C>T (p.Pro850Leu)	MAP3K15 (P850L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3053533	NM_001001671.4(MAP3K15):c.2512G>A (p.Gly838Ser)	MAP3K15 (G838S)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3038332	NM_001001671.4(MAP3K15):c.2466C>T (p.Asp822=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3035184	NM_001001671.4(MAP3K15):c.2356G>A (p.Gly786Arg)	MAP3K15 (G786R)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3038199	NM_001001671.4(MAP3K15):c.2328C>T (p.Gly776=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3037954	NM_001001671.4(MAP3K15):c.2085C>T (p.His695=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3034999	NM_001001671.4(MAP3K15):c.2076G>A (p.Gln692=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3033464	NM_001001671.4(MAP3K15):c.1971C>T (p.Val657=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3041213	NM_001001671.4(MAP3K15):c.1926C>T (p.Thr642=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3052568	NM_001001671.4(MAP3K15):c.1893G>A (p.Thr631=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3038873	NM_001001671.4(MAP3K15):c.1710C>T (p.His570=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3043053	NM_001001671.4(MAP3K15):c.1509G>A (p.Ser503=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3044852	NM_001001671.4(MAP3K15):c.1480C>T (p.Arg494Cys)	MAP3K15 (R494C)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3033732	NM_001001671.4(MAP3K15):c.1440-1G>T	MAP3K15	Single nucleotide variant (splice acceptor variant)	MAP3K15-related disorder	GLikely benign
Select item 3051996	NM_001001671.4(MAP3K15):c.1369A>G (p.Met457Val)	MAP3K15 (M457V)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3033963	NM_001001671.4(MAP3K15):c.1369A>C (p.Met457Leu)	MAP3K15 (M457L)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3042136	NM_001001671.4(MAP3K15):c.1366A>G (p.Ser456Gly)	MAP3K15 (S456G)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 788841	NM_001001671.4(MAP3K15):c.1363G>A (p.Val455Ile)	MAP3K15 (V455I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2628808	NM_001001671.4(MAP3K15):c.884T>G (p.Ile295Ser)	MAP3K15 (I295S)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GUncertain significance
Select item 3052142	NM_001001671.4(MAP3K15):c.791C>T (p.Ala264Val)	MAP3K15 (A264V)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3037530	NM_001001671.4(MAP3K15):c.719+9C>T	MAP3K15	Single nucleotide variant (intron variant)	MAP3K15-related disorder	GBenign
Select item 770825	NM_001001671.4(MAP3K15):c.596G>A (p.Ser199Asn)	MAP3K15 (S199N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3060122	NM_001001671.4(MAP3K15):c.574G>A (p.Ala192Thr)	MAP3K15 (A192T)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3035889	NM_001001671.4(MAP3K15):c.552C>T (p.Ile184=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 2237635	NM_001001671.4(MAP3K15):c.462G>T (p.Leu154Phe)	MAP3K15 (L154F)	Single nucleotide variant (missense variant)	MAP3K15-related disorder +1 more	GUncertain significance
Select item 2634078	NM_001001671.4(MAP3K15):c.233del (p.Gly78fs)	MAP3K15 (G78fs)	Deletion (frameshift variant)	MAP3K15-related disorder	GUncertain significance

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Items: 39