"Ambry Genetics"[submitter] AND "LOC126807392"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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