MAP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 3041281	NM_001385682.1(MAP4):c.*138A>G	MAP4 (H1094R +2 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 2653784	NM_001385682.1(MAP4):c.*69G>A	MAP4 (R1071H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3043744	NM_001385682.1(MAP4):c.*44G>A	MAP4 (D1063N +2 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2544122	NM_001385682.1(MAP4):c.6800C>T (p.Ala2267Val)	MAP4 (A1000V +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053586	NM_001385682.1(MAP4):c.6792C>T (p.Pro2264=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2470328	NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu)	MAP4 (P1000L +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3123062	NM_001385682.1(MAP4):c.6736C>G (p.Pro2246Ala)	MAP4 (P1009A +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039620	NM_001385682.1(MAP4):c.6726G>A (p.Leu2242=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2516658	NM_001385682.1(MAP4):c.6721C>T (p.Pro2241Ser)	MAP4 (P1004S +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123061	NM_001385682.1(MAP4):c.6715G>A (p.Glu2239Lys)	MAP4 (E987K +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475761	NM_001385682.1(MAP4):c.6706G>C (p.Gly2236Arg)	MAP4 (G1007R +74 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309206	NM_001385682.1(MAP4):c.6658G>A (p.Asp2220Asn)	MAP4 (D1003N +72 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209088	NM_001385682.1(MAP4):c.6496G>C (p.Gly2166Arg)	MAP4 (G1018R +49 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039009	NM_001385682.1(MAP4):c.6422C>T (p.Ser2141Phe)	MAP4 (S1008F +49 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GLikely benign
Select item 57728	GRCh38/hg38 3p21.31(chr3:47867990-48259991)x3	CAMP, CDC25A +19 more	Copy number gain	See cases	GUncertain significance
Select item 3032804	NM_001385682.1(MAP4):c.6402G>A (p.Ala2134=)	MAP4	Single nucleotide variant (intron variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2313283	NM_001385682.1(MAP4):c.6401C>A (p.Ala2134Glu)	MAP4 (A461E +39 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057412	NM_001385682.1(MAP4):c.6384T>C (p.Ser2128=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2459998	NM_001385682.1(MAP4):c.6374C>T (p.Pro2125Leu)	MAP4 (P1009L +39 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043041	NM_001385682.1(MAP4):c.6369C>T (p.Ala2123=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2613196	NM_001385682.1(MAP4):c.6335G>A (p.Arg2112Gln)	MAP4 (R518Q +39 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541629	NM_001385682.1(MAP4):c.6328A>G (p.Thr2110Ala)	MAP4 (T2110A +39 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604021	NM_001385682.1(MAP4):c.6311A>C (p.Lys2104Thr)	MAP4 (K510T +39 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229615	NM_001385682.1(MAP4):c.6237T>A (p.Asn2079Lys)	MAP4 (N2039K +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274127	NM_001385682.1(MAP4):c.6220G>A (p.Ala2074Thr)	MAP4 (A2050T +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318484	NM_001385682.1(MAP4):c.6125G>C (p.Arg2042Pro)	MAP4 (R2042P +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516057	NM_001385682.1(MAP4):c.6085G>A (p.Val2029Met)	MAP4 (V1989M +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123059	NM_001385682.1(MAP4):c.6065G>A (p.Gly2022Glu)	MAP4 (G1998E +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327093	NM_001385682.1(MAP4):c.6004G>A (p.Asp2002Asn)	MAP4 (D2002N +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275211	NM_001385682.1(MAP4):c.5885C>A (p.Ala1962Asp)	MAP4 (A1938D +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219376	NM_001385682.1(MAP4):c.5884G>C (p.Ala1962Pro)	MAP4 (A327P +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302662	NM_001385682.1(MAP4):c.5876C>G (p.Ala1959Gly)	MAP4 (A1919G +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515420	NM_001385682.1(MAP4):c.5851A>C (p.Thr1951Pro)	MAP4 (T326P +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781710	NM_001385682.1(MAP4):c.5850G>A (p.Gln1950=)	MAP4	Single nucleotide variant (synonymous variant)	MAP4-related disorder +1 more	GBenign
Select item 1810418	NM_001385682.1(MAP4):c.5800_5820del (p.Ser1934_Pro1940del)	MAP4	Deletion (inframe deletion +1 more)	Kleine-Levin syndrome	GUncertain significance
Select item 2265131	NM_001385682.1(MAP4):c.5789G>A (p.Arg1930Gln)	MAP4 (R1906Q +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123057	NM_001385682.1(MAP4):c.5762T>C (p.Ile1921Thr)	MAP4 (I263T +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040424	NM_001385682.1(MAP4):c.5760C>T (p.Pro1920=)	MAP4	Single nucleotide variant (synonymous variant)	MAP4-related disorder	GLikely benign
Select item 2302151	NM_001385682.1(MAP4):c.5681C>A (p.Pro1894Gln)	MAP4 (P642Q +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123056	NM_001385682.1(MAP4):c.5672G>C (p.Gly1891Ala)	MAP4 (G256A +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402731	NM_001385682.1(MAP4):c.5588A>C (p.Lys1863Thr)	MAP4 (K205T +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271588	NM_001385682.1(MAP4):c.5474G>C (p.Gly1825Ala)	MAP4 (G167A +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039645	NM_001385682.1(MAP4):c.5466G>C (p.Val1822=)	MAP4	Single nucleotide variant (synonymous variant)	MAP4-related disorder	GBenign
Select item 3123055	NM_001385682.1(MAP4):c.5456G>A (p.Gly1819Glu)	MAP4 (G266E +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516578	NM_001385682.1(MAP4):c.5438T>A (p.Ile1813Lys)	MAP4 (I457K +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123054	NM_001385682.1(MAP4):c.1956A>C (p.Lys652Asn)	MAP4 (K203N +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545986	NM_001385682.1(MAP4):c.1922A>G (p.Glu641Gly)	MAP4 (E192G +19 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256509	NM_001385682.1(MAP4):c.1892C>G (p.Thr631Arg)	MAP4 (T420R +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040872	NM_001385682.1(MAP4):c.1884C>G (p.Val628=)	MAP4 (I587M +1 more)	Single nucleotide variant (synonymous variant +2 more)	MAP4-related disorder	GLikely benign
Select item 3123053	NM_001385682.1(MAP4):c.1883T>C (p.Val628Ala)	MAP4 (V417A +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060070	NM_001385682.1(MAP4):c.1882G>A (p.Val628Ile)	MAP4 (V179I +19 more)	Single nucleotide variant (missense variant +2 more)	MAP4-related disorder	GBenign
Select item 2399193	NM_001385682.1(MAP4):c.1855C>T (p.Pro619Ser)	MAP4 (P578S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034981	NM_001385682.1(MAP4):c.1837G>A (p.Val613Met)	MAP4 (V402M +17 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2620839	NM_001385682.1(MAP4):c.1793A>C (p.Gln598Pro)	MAP4 (Q450P +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033770	NM_001385682.1(MAP4):c.1707T>C (p.Asn569=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 3123052	NM_001385682.1(MAP4):c.1649C>T (p.Pro550Leu)	MAP4 (P402L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035749	NM_001385682.1(MAP4):c.1647C>T (p.Val549=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 2341192	NM_001385682.1(MAP4):c.1591A>G (p.Ile531Val)	MAP4 (I429V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714945	NM_001385682.1(MAP4):c.1548G>A (p.Leu516=)	MAP4	Single nucleotide variant (intron variant +1 more)	MAP4-related disorder +1 more	GLikely benign
Select item 2353105	NM_001385682.1(MAP4):c.1481C>T (p.Pro494Leu)	MAP4 (P392L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2295400	NM_001385682.1(MAP4):c.1472A>T (p.Asp491Val)	MAP4 (D280V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368136	NM_001385682.1(MAP4):c.1463C>T (p.Pro488Leu)	MAP4 (P277L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1810419	NM_001385682.1(MAP4):c.1370A>G (p.Asn457Ser)	MAP4 (N444S +17 more)	Single nucleotide variant (missense variant +1 more)	Kleine-Levin syndrome	GUncertain significance
Select item 2271359	NM_001385682.1(MAP4):c.1361C>T (p.Pro454Leu)	MAP4 (P243L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055750	NM_001385682.1(MAP4):c.1321G>C (p.Glu441Gln)	MAP4 (E230Q +17 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 3048980	NM_001385682.1(MAP4):c.1311T>C (p.Ala437=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 3059551	NM_001385682.1(MAP4):c.1280C>A (p.Ser427Tyr)	MAP4 (S279Y +16 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 2288106	NM_001385682.1(MAP4):c.1184A>C (p.Asp395Ala)	MAP4 (D316A +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 372136	NM_001385682.1(MAP4):c.1171G>A (p.Ala391Thr)	MAP4 (A391T +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3035104	NM_001385682.1(MAP4):c.1156A>G (p.Ile386Val)	MAP4 (I238V +16 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 2363775	NM_001385682.1(MAP4):c.1093G>T (p.Ala365Ser)	MAP4 (A301S +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284072	NM_001385682.1(MAP4):c.1078A>G (p.Ile360Val)	MAP4 (I330V +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406510	NM_001385682.1(MAP4):c.980A>T (p.Asp327Val)	MAP4 (D179V +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254825	NM_001385682.1(MAP4):c.931G>A (p.Glu311Lys)	MAP4 (E204K +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123067	NM_001385682.1(MAP4):c.853G>A (p.Asp285Asn)	MAP4 (D137N +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609404	NM_001385682.1(MAP4):c.852A>T (p.Leu284Phe)	MAP4 (L136F +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123066	NM_001385682.1(MAP4):c.833T>C (p.Met278Thr)	MAP4 (M255T +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123065	NM_001385682.1(MAP4):c.811G>A (p.Glu271Lys)	MAP4 (E123K +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494033	NM_001385682.1(MAP4):c.742A>G (p.Thr248Ala)	MAP4 (T184A +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3044324	NM_001385682.1(MAP4):c.647C>T (p.Thr216Met)	MAP4 (T109M +10 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 3123064	NM_001385682.1(MAP4):c.634C>A (p.Pro212Thr)	MAP4 (P105T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123063	NM_001385682.1(MAP4):c.593C>T (p.Pro198Leu)	MAP4 (P119L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259398	NM_001385682.1(MAP4):c.427A>T (p.Met143Leu)	MAP4 (M155L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043861	NM_001385682.1(MAP4):c.403C>T (p.Pro135Ser)	MAP4 (P112S +6 more)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 3055841	NM_001385682.1(MAP4):c.399C>T (p.Val133=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GBenign
Select item 2593529	NM_001385682.1(MAP4):c.368C>T (p.Thr123Ile)	MAP4 (T123I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475461	NM_001385682.1(MAP4):c.308T>C (p.Phe103Ser)	MAP4 (F115S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494940	NM_001385682.1(MAP4):c.302C>T (p.Thr101Ile)	MAP4 (T113I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608985	NM_001385682.1(MAP4):c.301A>T (p.Thr101Ser)	MAP4 (T101S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3047450	NM_001385682.1(MAP4):c.300A>G (p.Pro100=)	MAP4	Single nucleotide variant (synonymous variant +2 more)	MAP4-related disorder	GLikely benign
Select item 3041545	NM_001385682.1(MAP4):c.292+2409G>A	MAP4	Single nucleotide variant (3 prime UTR variant +1 more)	MAP4-related disorder	GLikely benign
Select item 790262	NM_001385682.1(MAP4):c.292+9T>G	MAP4	Single nucleotide variant (intron variant)	MAP4-related disorder +1 more	GBenign/Likely benign
Select item 2341705	NM_001385682.1(MAP4):c.219T>G (p.Ile73Met)	MAP4 (I73M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588695	NM_001385682.1(MAP4):c.134C>A (p.Thr45Lys)	MAP4 (T45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778072	NM_001385682.1(MAP4):c.111T>C (p.Val37=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3056736	NM_001385682.1(MAP4):c.68G>A (p.Arg23Gln)	MAP4 (R23Q)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GBenign
Select item 3034536	NM_001385682.1(MAP4):c.67C>T (p.Arg23Trp)	MAP4 (R23W)	Single nucleotide variant (missense variant +1 more)	MAP4-related disorder	GLikely benign
Select item 3035813	NM_001385682.1(MAP4):c.60G>A (p.Glu20=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign
Select item 3043664	NM_001385682.1(MAP4):c.48C>T (p.Asp16=)	MAP4	Single nucleotide variant (synonymous variant +1 more)	MAP4-related disorder	GLikely benign

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