"GeneDx"[submitter] AND "MAP3K1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1232144	NC_000005.10:g.56814857C>A	LOC129993917, MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 1238666	NC_000005.10:g.56815030G>C	MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 1280814	NC_000005.10:g.56815110G>A	MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 1243762	NC_000005.10:g.56815110G>C	MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 1236692	NC_000005.10:g.56815165G>T	MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 1295923	NC_000005.10:g.56815260A>C	MAP3K1	Single nucleotide variant	not provided	GBenign
Select item 2571698	NM_005921.2(MAP3K1):c.83G>T (p.Gly28Val)	LOC129993918, MAP3K1 (G28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435820	NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu)	LOC129993918, MAP3K1 (P153L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1280902	NM_005921.2(MAP3K1):c.482+45C>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281933	NM_005921.2(MAP3K1):c.482+63C>T	LOC129993919, MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518362	NM_005921.2(MAP3K1):c.483-11C>A	MAP3K1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2505821	NM_005921.2(MAP3K1):c.868G>T (p.Ala290Ser)	MAP3K1 (A290S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451623	NM_005921.2(MAP3K1):c.963G>T (p.Gln321His)	MAP3K1 (Q321H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518363	NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=)	MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1225269	NM_005921.2(MAP3K1):c.1301+171C>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 471689	NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1231698	NM_005921.2(MAP3K1):c.1687-46C>G	MAP3K1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267852	NM_005921.2(MAP3K1):c.1965+254G>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249695	NM_005921.2(MAP3K1):c.2087+298A>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264679	NM_005921.2(MAP3K1):c.2088-232T>C	LOC132089277, MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278375	NM_005921.2(MAP3K1):c.2088-92C>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243425	NM_005921.2(MAP3K1):c.2369+49A>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178571	NM_005921.2(MAP3K1):c.2370-28T>C	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518364	NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn)	MAP3K1 (D806N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1801925	NM_005921.2(MAP3K1):c.2668C>T (p.Pro890Ser)	MAP3K1 (P890S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451621	NM_005921.2(MAP3K1):c.3062C>T (p.Thr1021Ile)	MAP3K1 (T1021I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521343	NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln)	MAP3K1 (K1024Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170263	NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 518366	NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1258800	NM_005921.2(MAP3K1):c.3667-142C>T	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275342	NM_005921.2(MAP3K1):c.3667-13G>A	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1273098	NM_005921.2(MAP3K1):c.3820-11A>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1274525	NM_005921.2(MAP3K1):c.3982+264A>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277550	NM_005921.2(MAP3K1):c.4257+195C>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290794	NM_005921.2(MAP3K1):c.4257+290G>C	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251207	NM_005921.2(MAP3K1):c.4258-310T>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232052	NM_005921.2(MAP3K1):c.4258-112C>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245563	NM_005921.2(MAP3K1):c.4389+260T>C	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226621	NM_005921.2(MAP3K1):c.4390-327A>G	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273121	NM_005921.2(MAP3K1):c.4390-108C>T	MAP3K1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 40