"Ambry Genetics"[submitter] AND "MAP4K4"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2245455	NM_001395002.1(MAP4K4):c.140C>T (p.Thr47Met)	MAP4K4 (T38M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267409	NM_001395002.1(MAP4K4):c.436A>G (p.Ile146Val)	MAP4K4 (I146V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531587	NM_001395002.1(MAP4K4):c.458A>G (p.Asp153Gly)	MAP4K4 (D153G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220465	NM_001395002.1(MAP4K4):c.485C>G (p.Thr162Ser)	MAP4K4 (T153S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396035	NM_001395002.1(MAP4K4):c.757C>A (p.Leu253Met)	MAP4K4 (L253M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474274	NM_001395002.1(MAP4K4):c.881A>G (p.Asn294Ser)	MAP4K4 (N285S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541682	NM_001395002.1(MAP4K4):c.1000C>T (p.Pro334Ser)	MAP4K4 (P325S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340883	NM_001395002.1(MAP4K4):c.1280A>G (p.Gln427Arg)	MAP4K4 (Q153R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325654	NM_001395002.1(MAP4K4):c.1403T>G (p.Ile468Ser)	MAP4K4 (I468S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2600682	NM_001395002.1(MAP4K4):c.1441G>A (p.Val481Ile)	MAP4K4 (V472I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2363423	NM_001395002.1(MAP4K4):c.1592C>T (p.Pro531Leu)	MAP4K4 (P257L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599584	NM_001395002.1(MAP4K4):c.1594C>T (p.His532Tyr)	MAP4K4 (H258Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309910	NM_001395002.1(MAP4K4):c.1616C>T (p.Pro539Leu)	MAP4K4 (P501L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378790	NM_001395002.1(MAP4K4):c.1655A>G (p.His552Arg)	MAP4K4 (H278R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550755	NM_001395002.1(MAP4K4):c.1676A>G (p.His559Arg)	MAP4K4 (H521R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278458	NM_001395002.1(MAP4K4):c.1774T>A (p.Leu592Met)	MAP4K4 (L552M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475009	NM_001395002.1(MAP4K4):c.2413C>A (p.Pro805Thr)	MAP4K4 (P643T +29 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591735	NM_001395002.1(MAP4K4):c.2473G>T (p.Ala825Ser)	LOC122817718, MAP4K4 (A660S +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523443	NM_001395002.1(MAP4K4):c.2487G>T (p.Glu829Asp)	LOC122817718, MAP4K4 (E657D +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254439	NM_001395002.1(MAP4K4):c.2528C>T (p.Thr843Met)	LOC122817718, MAP4K4 (T515M +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327685	NM_001395002.1(MAP4K4):c.2561C>T (p.Thr854Met)	MAP4K4, LOC122817718 (T495M +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618975	NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr)	MAP4K4, LOC122817718 (A737T +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555065	NM_001395002.1(MAP4K4):c.2677G>C (p.Val893Leu)	MAP4K4 (V721L +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620717	NM_001395002.1(MAP4K4):c.2687T>C (p.Met896Thr)	MAP4K4 (M779T +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486854	NM_001395002.1(MAP4K4):c.2762G>A (p.Ser921Asn)	MAP4K4 (S562N +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401432	NM_001395002.1(MAP4K4):c.2858C>T (p.Ser953Phe)	MAP4K4 (S842F +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593695	NM_001395002.1(MAP4K4):c.2900C>T (p.Pro967Leu)	MAP4K4 (P608L +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306505	NM_001395002.1(MAP4K4):c.2953A>C (p.Thr985Pro)	MAP4K4 (T413P +51 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508464	NM_001395002.1(MAP4K4):c.3190C>T (p.Arg1064Cys)	MAP4K4 (R1061C +51 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304748	NM_001395002.1(MAP4K4):c.3232G>T (p.Ala1078Ser)	MAP4K4 (A851S +51 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370922	NM_001395002.1(MAP4K4):c.3262A>G (p.Thr1088Ala)	MAP4K4 (T1000A +51 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495543	NM_001395002.1(MAP4K4):c.3613G>T (p.Ala1205Ser)	MAP4K4 (A1024S +51 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315771	NM_001395002.1(MAP4K4):c.3826A>G (p.Met1276Val)	MAP4K4 (M1041V +52 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232370	NM_001395002.1(MAP4K4):c.4060C>T (p.Arg1354Cys)	MAP4K4 (R1158C +52 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34