ClinVar for MedGen (Select 462414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234103	NM_005921.2(MAP3K1):c.1903T>C (p.Cys635Arg)	MAP3K1 (C635R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 3011067	NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)	MAP3K1 (R179H)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2992813	NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2917398	NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)	MAP3K1 (I674M)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2913716	NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)	MAP3K1 (K167E)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2899991	NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2864912	NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 2855528	NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)	MAP3K1 (R1482Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2853550	NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2852904	NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)	MAP3K1 (A671V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 2850638	NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6 +1 more	GBenign/Likely benign
Select item 2831933	NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)	LOC129993918, MAP3K1 (G121S)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2821577	NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)	LOC129993918, MAP3K1 (G104D)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2813233	NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)	MAP3K1 (T847A)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2801897	NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)	LOC129993918, MAP3K1 (Q76H)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GBenign
Select item 2800691	NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)	LOC126807392, MAP3K1 (S1139F)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2799721	NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2788949	NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)	MAP3K1 (N807S)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2778164	NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)	LOC126807392, MAP3K1 (S1071I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2745804	NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)	MAP3K1 (M450V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GPathogenic
Select item 2729777	NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)	LOC129993918, MAP3K1 (A116V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 2728000	NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)	MAP3K1 (S901C)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2723844	NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)	LOC129993918, MAP3K1 (P111S)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2712419	NM_005921.2(MAP3K1):c.4114+10C>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GLikely benign
Select item 2706135	NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)	MAP3K1 (Q1248R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2507001	NM_005921.2(MAP3K1):c.3964T>G (p.Phe1322Val)	MAP3K1 (F1322V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely pathogenic
Select item 2417555	NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)	LOC129993918, MAP3K1 (A98G)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GBenign
Select item 2414841	NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2343812	NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)	MAP3K1 (Q320R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 2219751	NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)	LOC126807392, MAP3K1 (D1092G)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GUncertain significance
Select item 2203650	NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)	MAP3K1 (R306C)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 2198823	NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)	MAP3K1 (I1440V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2194123	NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2174328	NM_005921.2(MAP3K1):c.3819+9C>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GLikely benign
Select item 2152000	NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)	MAP3K1 (E601K)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 2134607	NM_005921.2(MAP3K1):c.2370-17A>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GLikely benign
Select item 2132324	NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)	MAP3K1 (V1045L)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2095374	NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)	MAP3K1 (V638G)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2094810	NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)	LOC126807392, MAP3K1 (P1203R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2063183	NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)	MAP3K1 (P159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2046774	NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)	LOC129993918, MAP3K1 (R54Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 2009771	NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1982528	NM_005921.2(MAP3K1):c.786G>T (p.Val262=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1974620	NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)	MAP3K1 (Y544F)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1954893	NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)	MAP3K1	Microsatellite (inframe_insertion)	46,XY sex reversal 6	GLikely benign
Select item 1954822	NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)	LOC129993918, MAP3K1	Microsatellite (inframe_insertion +1 more)	46,XY sex reversal 6	GUncertain significance
Select item 1951831	NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)	MAP3K1 (M955T)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GBenign
Select item 1929366	NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)	MAP3K1 (L662P)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1917474	NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)	LOC129993918, MAP3K1 (A5P)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GUncertain significance
Select item 1720193	NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)	LOC129993918, MAP3K1 (E46D)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1662083	NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 1655430	NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1652628	NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile)	MAP3K1 (V827I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1631059	NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile)	MAP3K1 (V873I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1630273	NM_005921.2(MAP3K1):c.835-11dup	MAP3K1	Duplication (intron variant)	46,XY sex reversal 6	GBenign/Likely benign
Select item 1620438	NM_005921.2(MAP3K1):c.576C>T (p.Thr192=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1612863	NM_005921.2(MAP3K1):c.15G>A (p.Ala5=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1610037	NM_005921.2(MAP3K1):c.1035+12C>T	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GLikely benign
Select item 1601738	NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup)	LOC129993918, MAP3K1	Microsatellite (inframe_insertion +1 more)	46,XY sex reversal 6 +1 more	GBenign
Select item 1599911	NM_005921.2(MAP3K1):c.482+10462A>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GBenign
Select item 1598785	NM_005921.2(MAP3K1):c.633+815T>C	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GBenign
Select item 1547011	NM_005921.2(MAP3K1):c.381G>T (p.Ser127=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 1545388	NM_005921.2(MAP3K1):c.1926C>A (p.Val642=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1521343	NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln)	MAP3K1 (K1024Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 1478607	NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys)	LOC126807392, MAP3K1 (M1081K)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1464719	NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp)	LOC129993918, MAP3K1 (A30D)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1448217	NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala)	MAP3K1 (V1435A)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1440880	NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup)	LOC129993918, MAP3K1	Microsatellite (inframe_insertion)	46,XY sex reversal 6	GUncertain significance
Select item 1427817	NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile)	MAP3K1 (M857I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1422644	NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr)	LOC129993918, MAP3K1 (A55T)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1409129	NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup)	MAP3K1	Microsatellite (inframe_insertion)	46,XY sex reversal 6	GUncertain significance
Select item 1399953	NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val)	MAP3K1 (M641V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1383329	NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys)	LOC126807392, MAP3K1 (S1089C)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GUncertain significance
Select item 1364305	NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu)	MAP3K1 (S1472L)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1337865	NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala)	MAP3K1 (V863A)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1337701	NM_005921.2(MAP3K1):c.3667-4G>T	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6 +1 more	GBenign/Likely benign
Select item 1275342	NM_005921.2(MAP3K1):c.3667-13G>A	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	not provided +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 1231698	NM_005921.2(MAP3K1):c.1687-46C>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1172841	NM_005921.2(MAP3K1):c.1666T>G (p.Leu556Val)	MAP3K1 (L556V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1170263	NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=)	MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168726	NM_005921.2(MAP3K1):c.45G>A (p.Pro15=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167651	NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg)	LOC129993918, MAP3K1 (G102R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1167482	NM_005921.2(MAP3K1):c.3667-7T>C	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GBenign
Select item 1158378	NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1147868	NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln)	MAP3K1 (R248Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1140005	NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1132517	NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1125541	NM_005921.2(MAP3K1):c.917G>A (p.Arg306His)	MAP3K1 (R306H)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 1120829	NM_005921.2(MAP3K1):c.429C>T (p.Pro143=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1093841	NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 1049556	NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp)	MAP3K1 (R339W)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 1033045	NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)	LOC129993918, MAP3K1 (P15R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 982900	NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val)	MAP3K1 (E1286V)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 959411	NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile)	MAP3K1 (T379I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 931588	NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys)	MAP3K1 (E504K)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 842507	NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del)	MAP3K1 (S928del)	Deletion (inframe_deletion)	46,XY sex reversal 6	GUncertain significance
Select item 833940	NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser)	MAP3K1 (N538S)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 833601	NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser)	MAP3K1 (N899S)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
Select item 790952	NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign

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