"Ambry Genetics"[submitter] AND "MAP3K1"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2571698	NM_005921.2(MAP3K1):c.83G>T (p.Gly28Val)	LOC129993918, MAP3K1 (G28V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 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 3292984	NM_005921.2(MAP3K1):c.203T>G (p.Val68Gly)	LOC129993918, MAP3K1 (V68G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 430731	NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)	MAP3K1 (L189Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 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 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 3122792	NM_005921.2(MAP3K1):c.1006A>T (p.Asn336Tyr)	MAP3K1 (N336Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249264	NM_005921.2(MAP3K1):c.1117C>G (p.Pro373Ala)	MAP3K1 (P373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536716	NM_005921.2(MAP3K1):c.1418C>T (p.Ser473Leu)	MAP3K1 (S473L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608499	NM_005921.2(MAP3K1):c.1661A>G (p.Lys554Arg)	MAP3K1 (K554R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323156	NM_005921.2(MAP3K1):c.1744A>G (p.Met582Val)	MAP3K1 (M582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122794	NM_005921.2(MAP3K1):c.1780G>T (p.Ala594Ser)	MAP3K1 (A594S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606164	NM_005921.2(MAP3K1):c.1823G>A (p.Gly608Asp)	MAP3K1 (G608D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122795	NM_005921.2(MAP3K1):c.1870C>G (p.Gln624Glu)	MAP3K1 (Q624E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480635	NM_005921.2(MAP3K1):c.1892T>C (p.Val631Ala)	MAP3K1 (V631A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247119	NM_005921.2(MAP3K1):c.1924G>A (p.Val642Ile)	MAP3K1 (V642I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465383	NM_005921.2(MAP3K1):c.1954G>A (p.Val652Ile)	MAP3K1 (V652I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521104	NM_005921.2(MAP3K1):c.2291T>G (p.Leu764Arg)	MAP3K1 (L764R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122798	NM_005921.2(MAP3K1):c.2332A>C (p.Ser778Arg)	MAP3K1 (S778R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122799	NM_005921.2(MAP3K1):c.2380C>G (p.Leu794Val)	MAP3K1 (L794V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279046	NM_005921.2(MAP3K1):c.2401G>T (p.Ala801Ser)	MAP3K1 (A801S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122800	NM_005921.2(MAP3K1):c.2413A>C (p.Ile805Leu)	MAP3K1 (I805L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364200	NM_005921.2(MAP3K1):c.2435T>C (p.Val812Ala)	MAP3K1 (V812A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122801	NM_005921.2(MAP3K1):c.2615G>T (p.Gly872Val)	MAP3K1 (G872V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292982	NM_005921.2(MAP3K1):c.2672A>T (p.Asn891Ile)	MAP3K1 (N891I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2263090	NM_005921.2(MAP3K1):c.2702C>T (p.Ser901Phe)	MAP3K1 (S901F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252139	NM_005921.2(MAP3K1):c.3028A>T (p.Ile1010Phe)	MAP3K1 (I1010F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490244	NM_005921.2(MAP3K1):c.3107A>T (p.Asn1036Ile)	MAP3K1 (N1036I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122803	NM_005921.2(MAP3K1):c.3115T>C (p.Ser1039Pro)	MAP3K1 (S1039P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122804	NM_005921.2(MAP3K1):c.3122A>T (p.Lys1041Ile)	MAP3K1 (K1041I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2330961	NM_005921.2(MAP3K1):c.3313G>A (p.Val1105Ile)	LOC126807392, MAP3K1 (V1105I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279261	NM_005921.2(MAP3K1):c.3320C>T (p.Pro1107Leu)	LOC126807392, MAP3K1 (P1107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254271	NM_005921.2(MAP3K1):c.3377C>T (p.Thr1126Ile)	LOC126807392, MAP3K1 (T1126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477937	NM_005921.2(MAP3K1):c.3386A>G (p.Asn1129Ser)	LOC126807392, MAP3K1 (N1129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410270	NM_005921.2(MAP3K1):c.3419T>C (p.Met1140Thr)	LOC126807392, MAP3K1 (M1140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122807	NM_005921.2(MAP3K1):c.3428G>A (p.Ser1143Asn)	LOC126807392, MAP3K1 (S1143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122808	NM_005921.2(MAP3K1):c.3434C>G (p.Thr1145Arg)	LOC126807392, MAP3K1 (T1145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465886	NM_005921.2(MAP3K1):c.3555A>C (p.Glu1185Asp)	LOC126807392, MAP3K1 (E1185D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271054	NM_005921.2(MAP3K1):c.3574G>T (p.Ala1192Ser)	LOC126807392, MAP3K1 (A1192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274843	NM_005921.2(MAP3K1):c.3721A>G (p.Thr1241Ala)	MAP3K1 (T1241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445319	NM_005921.2(MAP3K1):c.4036G>A (p.Val1346Ile)	MAP3K1 (V1346I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3122811	NM_005921.2(MAP3K1):c.4069C>A (p.Leu1357Ile)	MAP3K1 (L1357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310348	NM_005921.2(MAP3K1):c.4091A>G (p.Gln1364Arg)	MAP3K1 (Q1364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122812	NM_005921.2(MAP3K1):c.4523T>A (p.Phe1508Tyr)	MAP3K1 (F1508Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 73