ClinVar for Gene (Select 9448) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343780	NM_001395002.1(MAP4K4):c.2454+2T>A	MAP4K4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3343362	NM_001395002.1(MAP4K4):c.4055G>A (p.Cys1352Tyr)	MAP4K4 (C1117Y +48 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343162	NM_001395002.1(MAP4K4):c.940G>A (p.Gly314Ser)	MAP4K4 (G305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340992	NM_001395002.1(MAP4K4):c.52del (p.Leu18fs)	MAP4K4 (L18fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3293135	NM_001395002.1(MAP4K4):c.877C>G (p.Pro293Ala)	MAP4K4 (P284A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293134	NM_001395002.1(MAP4K4):c.2465A>T (p.Asp822Val)	MAP4K4 (D650V +38 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293133	NM_001395002.1(MAP4K4):c.2969G>A (p.Ser990Asn)	MAP4K4 (S761N +47 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293132	NM_001395002.1(MAP4K4):c.2944G>A (p.Ala982Thr)	MAP4K4 (A848T +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3293131	NM_001395002.1(MAP4K4):c.2153T>G (p.Leu718Arg)	MAP4K4 (L601R +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293130	NM_001395002.1(MAP4K4):c.3551T>C (p.Ile1184Thr)	MAP4K4 (I1028T +47 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293129	NM_001395002.1(MAP4K4):c.2773C>A (p.Gln925Lys)	MAP4K4 (Q831K +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293128	NM_001395002.1(MAP4K4):c.3049G>A (p.Gly1017Arg)	MAP4K4 (G790R +47 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253066	NM_001395002.1(MAP4K4):c.3268A>T (p.Ser1090Cys)	MAP4K4 (S1001C +47 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252352	NM_001395002.1(MAP4K4):c.131A>T (p.His44Leu)	MAP4K4 (H35L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3123124	NM_001395002.1(MAP4K4):c.3998C>T (p.Thr1333Ile)	MAP4K4 (T1098I +52 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123123	NM_001395002.1(MAP4K4):c.3880A>G (p.Arg1294Gly)	MAP4K4 (R1098G +52 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123122	NM_001395002.1(MAP4K4):c.3781A>G (p.Ser1261Gly)	MAP4K4 (S1105G +52 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123121	NM_001395002.1(MAP4K4):c.31G>A (p.Val11Met)	MAP4K4 (V11M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123120	NM_001395002.1(MAP4K4):c.2812G>A (p.Gly938Ser)	MAP4K4 (G804S +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3123119	NM_001395002.1(MAP4K4):c.2792A>G (p.His931Arg)	MAP4K4 (H797R +22 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3123118	NM_001395002.1(MAP4K4):c.2786G>A (p.Ser929Asn)	MAP4K4 (S851N +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3123116	NM_001395002.1(MAP4K4):c.2208T>C (p.Ser736=)	MAP4K4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3123115	NM_001395002.1(MAP4K4):c.1840G>A (p.Ala614Thr)	MAP4K4 (A605T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123114	NM_001395002.1(MAP4K4):c.1697C>T (p.Ala566Val)	MAP4K4 (A292V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123112	NM_001395002.1(MAP4K4):c.1111C>T (p.Arg371Trp)	MAP4K4 (R362W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123111	NM_001395002.1(MAP4K4):c.1051A>G (p.Thr351Ala)	MAP4K4 (T77A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2663097	NM_001395002.1(MAP4K4):c.571A>C (p.Thr191Pro)	MAP4K4 (T182P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2618975	NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr)	LOC122817718, MAP4K4 (A737T +41 more)	Single nucleotide variant (missense variant +1 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 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 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 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 2580529	NM_001395002.1(MAP4K4):c.106dup (p.Tyr36fs)	MAP4K4 (Y27fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2580438	NM_001395002.1(MAP4K4):c.584T>A (p.Met195Lys)	MAP4K4 (M186K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578366	NM_001395002.1(MAP4K4):c.583A>G (p.Met195Val)	MAP4K4 (M186V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2573811	NM_001395002.1(MAP4K4):c.1853C>G (p.Pro618Arg)	MAP4K4 (P578R +3 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2573809	NM_001395002.1(MAP4K4):c.68G>C (p.Gly23Ala)	MAP4K4 (G14A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 2443781	NM_001395002.1(MAP4K4):c.57+1del	MAP4K4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2443780	NM_001395002.1(MAP4K4):c.1570_1571del (p.Leu524fs)	MAP4K4 (L486fs +3 more)	Microsatellite (frameshift variant +2 more)	not provided	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 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 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 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 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 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 2327685	NM_001395002.1(MAP4K4):c.2561C>T (p.Thr854Met)	LOC122817718, MAP4K4 (T495M +41 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 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 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 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 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 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 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 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 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 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
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 1809233	GRCh37/hg19 2q11.2-12.1(chr2:102443532-105019078)x1	IL18R1, IL18RAP +9 more	Copy number loss	not provided	GUncertain significance
Select item 1804004	NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs)	MAP4K4 (V1003fs +47 more)	Deletion (frameshift variant +1 more)	Renal dysplasia +1 more	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340839	GRCh37/hg19 2q11.2(chr2:102328409-102561184)x3	MAP4K4	Copy number gain	not provided	GUncertain significance
Select item 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1294846	NM_001395002.1(MAP4K4):c.1234-81C>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291904	NM_001395002.1(MAP4K4):c.3931+164T>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286171	NM_001395002.1(MAP4K4):c.3931+40G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284142	NM_001395002.1(MAP4K4):c.3932-130T>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283903	NM_001395002.1(MAP4K4):c.57+163C>T	MAP4K4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1282830	NM_001395002.1(MAP4K4):c.3622-45_3622-44del	MAP4K4	Deletion (intron variant)	not provided	GBenign
Select item 1281319	NM_001395002.1(MAP4K4):c.180+172C>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279855	NM_001395002.1(MAP4K4):c.306+208G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279640	NM_001395002.1(MAP4K4):c.3521-137G>C	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279328	NM_001395002.1(MAP4K4):c.640-140C>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269539	NM_001395002.1(MAP4K4):c.181-224G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269280	NM_001395002.1(MAP4K4):c.3621+142A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266615	NM_001395002.1(MAP4K4):c.2356+136A>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265639	NM_001395002.1(MAP4K4):c.3242-13G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259880	NM_001395002.1(MAP4K4):c.-106T>C	MAP4K4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259509	NM_001395002.1(MAP4K4):c.1866+5C>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259339	NM_001395002.1(MAP4K4):c.418-161T>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256760	NM_001395002.1(MAP4K4):c.694+143G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252560	NM_001395002.1(MAP4K4):c.2761-94A>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251009	NM_001395002.1(MAP4K4):c.3241+38G>C	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247051	NM_001395002.1(MAP4K4):c.4071+37A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246242	NM_001395002.1(MAP4K4):c.640-174_640-167dup	MAP4K4	Duplication (intron variant)	not provided	GBenign
Select item 1243043	NM_001395002.1(MAP4K4):c.1866+210G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243012	NM_001395002.1(MAP4K4):c.123+57A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign

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