MAP3K1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 147801	GRCh38/hg38 5q11.2(chr5:56717311-57029532)x1	LOC105378979, LOC123493312 +22 more	Copy number loss	See cases	GUncertain significance
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 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 1601738	NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup)	LOC129993918, MAP3K1	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign
Select item 2391678	NM_005921.2(MAP3K1):c.11C>T (p.Ala4Val)	LOC129993918, MAP3K1 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3122805	NM_005921.2(MAP3K1):c.32C>T (p.Ser11Leu)	LOC129993918, MAP3K1 (S11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1168726	NM_005921.2(MAP3K1):c.45G>A (p.Pro15=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 2569384	NM_005921.2(MAP3K1):c.52A>G (p.Arg18Gly)	LOC129993918, MAP3K1 (R18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569385	NM_005921.2(MAP3K1):c.58A>G (p.Thr20Ala)	LOC129993918, MAP3K1 (T20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252945	NM_005921.2(MAP3K1):c.65C>T (p.Pro22Leu)	LOC129993918, MAP3K1 (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 471696	NM_005921.2(MAP3K1):c.81C>T (p.Gly27=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	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 645040	NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu)	LOC129993918, MAP3K1 (G29E)	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 2569383	NM_005921.2(MAP3K1):c.100A>G (p.Ser34Gly)	LOC129993918, MAP3K1 (S34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 767582	NM_005921.2(MAP3K1):c.138G>A (p.Glu46=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 3122793	NM_005921.2(MAP3K1):c.143G>A (p.Gly48Asp)	LOC129993918, MAP3K1 (G48D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 707218	NM_005921.2(MAP3K1):c.165G>A (p.Ala55=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
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 2546546	NM_005921.2(MAP3K1):c.185T>G (p.Leu62Arg)	LOC129993918, MAP3K1 (L62R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240372	NM_005921.2(MAP3K1):c.194T>G (p.Val65Gly)	LOC129993918, MAP3K1 (V65G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629377	NM_005921.2(MAP3K1):c.196C>A (p.Arg66=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	MAP3K1-related condition	GUncertain significance
Select item 3122797	NM_005921.2(MAP3K1):c.197G>A (p.Arg66Gln)	LOC129993918, MAP3K1 (R66Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310662	NM_005921.2(MAP3K1):c.199A>G (p.Ser67Gly)	LOC129993918, MAP3K1 (S67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 771372	NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro)	LOC129993918, MAP3K1 (L78P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 539064	NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro)	LOC129993918, MAP3K1 (L78P)	Indel (missense variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 771373	NM_005921.2(MAP3K1):c.234C>T (p.Leu78=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1337049	NM_005921.2(MAP3K1):c.248C>T (p.Ser83Leu)	LOC129993918, MAP3K1 (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655468	NM_005921.2(MAP3K1):c.249A>T (p.Ser83=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271911	NM_005921.2(MAP3K1):c.254C>T (p.Pro85Leu)	LOC129993918, MAP3K1 (P85L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3122802	NM_005921.2(MAP3K1):c.272C>T (p.Pro91Leu)	LOC129993918, MAP3K1 (P91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879623	NM_005921.2(MAP3K1):c.273G>A (p.Pro91=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412327	NM_005921.2(MAP3K1):c.277C>T (p.Pro93Ser)	LOC129993918, MAP3K1 (P93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305172	NM_005921.2(MAP3K1):c.287C>G (p.Ala96Gly)	LOC129993918, MAP3K1 (A96G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2255144	NM_005921.2(MAP3K1):c.308C>G (p.Thr103Ser)	LOC129993918, MAP3K1 (T103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2614728	NM_005921.2(MAP3K1):c.310G>C (p.Gly104Arg)	LOC129993918, MAP3K1 (G104R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2409324	NM_005921.2(MAP3K1):c.332C>T (p.Pro111Leu)	LOC129993918, MAP3K1 (P111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 518361	NM_005921.2(MAP3K1):c.351G>C (p.Ala117=)	LOC129993918, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
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 1342169	NM_005921.2(MAP3K1):c.374C>G (p.Thr125Ser)	LOC129993918, MAP3K1 (T125S)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 3122809	NM_005921.2(MAP3K1):c.376G>A (p.Glu126Lys)	LOC129993918, MAP3K1 (E126K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 767288	NM_005921.2(MAP3K1):c.394G>C (p.Asp132His)	LOC129993918, MAP3K1 (D132H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 2264317	NM_005921.2(MAP3K1):c.458C>A (p.Pro153Gln)	LOC129993918, MAP3K1 (P153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2063183	NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)	MAP3K1 (P159L)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 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 1599911	NM_005921.2(MAP3K1):c.482+10462A>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GBenign
Select item 539066	NM_005921.2(MAP3K1):c.483-18151A>G	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	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 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 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 590937	NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)	MAP3K1 (R183Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 649338	NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly)	MAP3K1 (R186G)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely pathogenic
Select item 430731	NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)	MAP3K1 (L189Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 30147	NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg)	MAP3K1 (L189R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GPathogenic
Select item 30146	NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro)	MAP3K1 (L189P)	Single nucleotide variant (missense variant)	MAP3K1-related condition	GPathogenic
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 932618	NM_005921.2(MAP3K1):c.597C>T (p.His199=)	MAP3K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 471694	NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys)	MAP3K1 (R205K)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
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 30144	NM_005921.2(MAP3K1):c.634-8T>A	MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GPathogenic
Select item 2326053	NM_005921.2(MAP3K1):c.643C>G (p.Pro215Ala)	MAP3K1 (P215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122813	NM_005921.2(MAP3K1):c.658G>A (p.Gly220Arg)	MAP3K1 (G220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556171	NM_005921.2(MAP3K1):c.662A>G (p.Asp221Gly)	MAP3K1 (D221G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122814	NM_005921.2(MAP3K1):c.686C>T (p.Ala229Val)	MAP3K1 (A229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 252655	NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg)	MAP3K1 (Q237R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 772120	NM_005921.2(MAP3K1):c.720G>A (p.Ala240=)	MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 2655469	NM_005921.2(MAP3K1):c.739G>A (p.Gly247Ser)	MAP3K1 (G247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 772571	NM_005921.2(MAP3K1):c.762C>T (p.Gly254=)	MAP3K1	Single nucleotide variant (synonymous variant)	MAP3K1-related condition +1 more	GBenign/Likely benign
Select item 471695	NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser)	MAP3K1 (N255S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 216959	NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)	MAP3K1 (P257L)	Single nucleotide variant (missense variant)	46,XY sex reversal 6 +1 more	GConflicting classifications of pathogenicity
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 772572	NM_005921.2(MAP3K1):c.834+9A>G	MAP3K1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1630273	NM_005921.2(MAP3K1):c.835-11dup	MAP3K1	Duplication (intron variant)	46,XY sex reversal 6	GBenign/Likely benign

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