MAP4K4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 127

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 1240597	NC_000002.12:g.101697473C>T	MAP4K4	Single nucleotide variant	not provided	GBenign
Select item 1225314	NM_001395002.1(MAP4K4):c.-363_-362dup	MAP4K4	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1238946	NM_001395002.1(MAP4K4):c.-149GCC[5]	MAP4K4	Microsatellite (5 prime UTR variant +1 more)	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 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 2443781	NM_001395002.1(MAP4K4):c.57+1del	MAP4K4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1183785	NM_001395002.1(MAP4K4):c.57+19G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231613	NM_001395002.1(MAP4K4):c.57+35GGCAGCC[4]	MAP4K4	Microsatellite (intron variant)	not provided	GBenign
Select item 1221787	NM_001395002.1(MAP4K4):c.57+38del	MAP4K4	Deletion (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 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 2580529	NM_001395002.1(MAP4K4):c.106dup (p.Tyr36fs)	MAP4K4 (Y27fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1243012	NM_001395002.1(MAP4K4):c.123+57A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 1231427	NM_001395002.1(MAP4K4):c.124-148A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514744	NM_001395002.1(MAP4K4):c.124-3C>T	MAP4K4	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1281319	NM_001395002.1(MAP4K4):c.180+172C>T	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 711192	NM_001395002.1(MAP4K4):c.255T>C (p.Tyr85=)	MAP4K4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1279855	NM_001395002.1(MAP4K4):c.306+208G>A	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 1183615	NM_001395002.1(MAP4K4):c.418-73A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 1246242	NM_001395002.1(MAP4K4):c.640-174_640-167dup	MAP4K4	Duplication (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 711799	NM_001395002.1(MAP4K4):c.640-4G>A	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 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 1232430	NM_001395002.1(MAP4K4):c.773+92C>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1240478	NM_001395002.1(MAP4K4):c.1022+125A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1235486	NM_001395002.1(MAP4K4):c.1234-214G>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294846	NM_001395002.1(MAP4K4):c.1234-81C>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183614	NM_001395002.1(MAP4K4):c.1254A>G (p.Glu418=)	MAP4K4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 732720	NM_001395002.1(MAP4K4):c.1599G>A (p.Pro533=)	MAP4K4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 545107	NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)	MAP4K4 (R565Q +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
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 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 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 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 1259509	NM_001395002.1(MAP4K4):c.1866+5C>T	MAP4K4	Single nucleotide variant (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 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 1266615	NM_001395002.1(MAP4K4):c.2356+136A>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1181526	NM_001395002.1(MAP4K4):c.2454+112T>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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)	LOC122817718, MAP4K4 (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)	LOC122817718, MAP4K4 (A737T +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1236114	NM_001395002.1(MAP4K4):c.2639+66C>T	LOC122817718, MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239400	NM_001395002.1(MAP4K4):c.2639+174A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235514	NM_001395002.1(MAP4K4):c.2639+176A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1252560	NM_001395002.1(MAP4K4):c.2761-94A>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 1234914	NM_001395002.1(MAP4K4):c.3071-78C>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1251009	NM_001395002.1(MAP4K4):c.3241+38G>C	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 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 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 1279640	NM_001395002.1(MAP4K4):c.3521-137G>C	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225502	NM_001395002.1(MAP4K4):c.3521-60T>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1269280	NM_001395002.1(MAP4K4):c.3621+142A>G	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2