MAP4K4[gene] - ClinVar - NCBI

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	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	LOC129934533, LOC129934534 +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934397, LOC129934398 +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 3392963	NM_001395002.1(MAP4K4):c.40G>T (p.Asp14Tyr)	MAP4K4 (D14Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368185	NM_001395002.1(MAP4K4):c.40G>A (p.Asp14Asn)	MAP4K4 (D14N)	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 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 3543001	NM_001395002.1(MAP4K4):c.58-2A>C	MAP4K4 (Q10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3368650	NM_001395002.1(MAP4K4):c.60T>G (p.Asp20Glu)	MAP4K4 (D11E +1 more)	Single nucleotide variant (missense 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 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	IL1R2, IL1RL1 +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 provided +1 more	GLikely benign
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 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 3776517	NM_001395002.1(MAP4K4):c.163G>A (p.Val55Ile)	MAP4K4 (V46I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367956	NM_001395002.1(MAP4K4):c.180G>A (p.Glu60=)	MAP4K4	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3393852	NM_001395002.1(MAP4K4):c.281C>T (p.Pro94Leu)	MAP4K4 (P85L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1279855	NM_001395002.1(MAP4K4):c.306+208G>A	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364967	NM_001395002.1(MAP4K4):c.307-2A>G	MAP4K4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3359351	NM_001395002.1(MAP4K4):c.347T>C (p.Leu116Pro)	MAP4K4 (L107P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3543010	NM_001395002.1(MAP4K4):c.371C>T (p.Thr124Ile)	MAP4K4 (T124I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3543006	NM_001395002.1(MAP4K4):c.375del (p.Glu127fs)	MAP4K4 (E127fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 3374718	NM_001395002.1(MAP4K4):c.514T>A (p.Phe172Ile)	MAP4K4 (F163I +1 more)	Single nucleotide variant (missense variant +1 more)	MAP4K4-related neurodevelopmental delay	GLikely pathogenic
Select item 3543008	NM_001395002.1(MAP4K4):c.518G>A (p.Gly173Asp)	MAP4K4 (G173D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3542998	NM_001395002.1(MAP4K4):c.560C>T (p.Thr187Met)	MAP4K4 (T178M +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 3543005	NM_001395002.1(MAP4K4):c.629A>G (p.Tyr210Cys)	MAP4K4 (Y201C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
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 3898687	NM_001395002.1(MAP4K4):c.770A>G (p.Lys257Arg)	MAP4K4 (K248R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232430	NM_001395002.1(MAP4K4):c.773+92C>T	MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3870336	NM_001395002.1(MAP4K4):c.799G>A (p.Glu267Lys)	MAP4K4 (E267K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3897096	NM_001395002.1(MAP4K4):c.1011A>T (p.Glu337Asp)	MAP4K4 (E328D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370257	NM_001395002.1(MAP4K4):c.1013G>C (p.Gly338Ala)	MAP4K4 (G329A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3764321	NM_001395002.1(MAP4K4):c.1060C>T (p.Arg354Ter)	MAP4K4 (R345* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3900101	NM_001395002.1(MAP4K4):c.1091A>G (p.Lys364Arg)	MAP4K4 (K355R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3870330	NM_001395002.1(MAP4K4):c.1130A>G (p.Gln377Arg)	MAP4K4 (Q368R +1 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 3543004	NM_001395002.1(MAP4K4):c.1247A>G (p.Glu416Gly)	MAP4K4 (E407G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3371211	NM_001395002.1(MAP4K4):c.1298A>G (p.Glu433Gly)	MAP4K4 (E424G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3870329	NM_001395002.1(MAP4K4):c.1301A>G (p.Glu434Gly)	MAP4K4 (E425G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3393625	NM_001395002.1(MAP4K4):c.1306_1308del (p.Arg437del)	MAP4K4 (R437del +1 more)	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 3767494	NM_001395002.1(MAP4K4):c.1316A>G (p.Glu439Gly)	MAP4K4 (E430G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3543002	NM_001395002.1(MAP4K4):c.1320G>T (p.Glu440Asp)	MAP4K4 (E431D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3910202	NM_001395002.1(MAP4K4):c.1544A>G (p.Gln515Arg)	MAP4K4 (Q477R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
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)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3373551	NM_001395002.1(MAP4K4):c.1752G>T (p.Gln584His)	MAP4K4 (Q544H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3602536	NM_001395002.1(MAP4K4):c.1807T>C (p.Phe603Leu)	MAP4K4 (F563L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 (missense variant +1 more)	not provided	GUncertain significance

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