MAP3K6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 2470582	NM_004672.5(MAP3K6):c.3782G>A (p.Arg1261His)	MAP3K6 (R1261H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 493031	NM_004672.5(MAP3K6):c.3781del (p.Arg1261fs)	MAP3K6 (R1253fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2257858	NM_004672.5(MAP3K6):c.3779C>T (p.Thr1260Ile)	MAP3K6 (T1260I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782369	NM_004672.5(MAP3K6):c.3747C>T (p.Leu1249=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition +1 more	GBenign
Select item 3055994	NM_004672.5(MAP3K6):c.3698G>C (p.Gly1233Ala)	MAP3K6 (G1225A +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2409225	NM_004672.5(MAP3K6):c.3691G>C (p.Asp1231His)	MAP3K6 (D1223H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355463	NM_004672.5(MAP3K6):c.3655C>G (p.Gln1219Glu)	MAP3K6 (Q1211E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568660	NM_004672.5(MAP3K6):c.3554G>A (p.Arg1185Gln)	MAP3K6 (R1177Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057500	NM_004672.5(MAP3K6):c.3530G>A (p.Arg1177His)	MAP3K6 (R1169H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 791784	NM_004672.5(MAP3K6):c.3425A>G (p.Gln1142Arg)	MAP3K6 (Q1134R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638557	NM_004672.5(MAP3K6):c.3373_3375del (p.Lys1125del)	MAP3K6 (K1117del +1 more)	Deletion (inframe_deletion)	MAP3K6-related condition +1 more	GBenign
Select item 742512	NM_004672.5(MAP3K6):c.3354G>T (p.Val1118=)	MAP3K6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237636	NM_004672.5(MAP3K6):c.3285G>C (p.Gln1095His)	MAP3K6 (Q1095H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037546	NM_004672.5(MAP3K6):c.3259-10C>T	MAP3K6	Single nucleotide variant (intron variant)	MAP3K6-related condition	GBenign
Select item 3056146	NM_004672.5(MAP3K6):c.3181G>A (p.Ala1061Thr)	MAP3K6 (A1053T +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GLikely benign
Select item 2224849	NM_004672.5(MAP3K6):c.3109G>C (p.Glu1037Gln)	MAP3K6 (E1029Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557195	NM_004672.5(MAP3K6):c.3073C>G (p.Gln1025Glu)	MAP3K6 (Q1017E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038494	NM_004672.5(MAP3K6):c.3070A>G (p.Lys1024Glu)	MAP3K6 (K1016E +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2264878	NM_004672.5(MAP3K6):c.3029A>G (p.Gln1010Arg)	MAP3K6 (Q1002R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287788	NM_004672.5(MAP3K6):c.2917G>A (p.Val973Met)	MAP3K6 (V965M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718391	NM_004672.5(MAP3K6):c.2915+9A>T	MAP3K6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2378716	NM_004672.5(MAP3K6):c.2894A>G (p.Tyr965Cys)	MAP3K6 (Y965C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375569	NM_004672.5(MAP3K6):c.2881C>A (p.Arg961Ser)	MAP3K6 (R961S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616063	NM_004672.5(MAP3K6):c.2876C>T (p.Pro959Leu)	MAP3K6 (P951L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031754	NM_004672.5(MAP3K6):c.2872C>A (p.Pro958Thr)	MAP3K6 (P950T +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GLikely benign
Select item 2638558	NM_004672.5(MAP3K6):c.2837C>T (p.Pro946Leu)	MAP3K6 (P938L +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition +1 more	GBenign/Likely benign
Select item 718416	NM_004672.5(MAP3K6):c.2787T>C (p.Ser929=)	MAP3K6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410228	NM_004672.5(MAP3K6):c.2767C>T (p.Arg923Trp)	MAP3K6 (R923W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053182	NM_004672.5(MAP3K6):c.2751C>T (p.Ser917=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition	GLikely benign
Select item 3056439	NM_004672.5(MAP3K6):c.2738G>A (p.Arg913His)	MAP3K6 (R905H +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2536696	NM_004672.5(MAP3K6):c.2732G>T (p.Arg911Met)	MAP3K6 (R911M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480589	NM_004672.5(MAP3K6):c.2675G>A (p.Arg892His)	MAP3K6 (R892H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475199	NM_004672.5(MAP3K6):c.2613G>A (p.Met871Ile)	MAP3K6 (M871I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234377	NM_004672.5(MAP3K6):c.2606C>T (p.Pro869Leu)	MAP3K6 (P861L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056282	NM_004672.5(MAP3K6):c.2584-6C>T	MAP3K6	Single nucleotide variant (intron variant)	MAP3K6-related condition	GBenign
Select item 806105	NM_004672.5(MAP3K6):c.2544del (p.Phe849fs)	MAP3K6 (F841fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2241155	NM_004672.5(MAP3K6):c.2536C>T (p.Arg846Cys)	MAP3K6 (R838C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555910	NM_004672.5(MAP3K6):c.2504T>G (p.Leu835Arg)	MAP3K6 (L827R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368512	NM_004672.5(MAP3K6):c.2470C>T (p.Arg824Cys)	MAP3K6 (R816C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602654	NM_004672.5(MAP3K6):c.2229C>G (p.Asp743Glu)	MAP3K6 (D743E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532144	NM_004672.5(MAP3K6):c.2216G>A (p.Gly739Glu)	MAP3K6 (G731E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620526	NM_004672.5(MAP3K6):c.2207C>T (p.Ser736Leu)	MAP3K6 (S728L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290484	NM_004672.5(MAP3K6):c.2165T>C (p.Met722Thr)	MAP3K6 (M714T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048868	NM_004672.5(MAP3K6):c.2002C>G (p.Arg668Gly)	MAP3K6 (R660G +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2569050	NM_004672.5(MAP3K6):c.1928A>G (p.Tyr643Cys)	MAP3K6 (Y643C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461489	NM_004672.5(MAP3K6):c.1868C>T (p.Pro623Leu)	MAP3K6 (P615L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403071	NM_004672.5(MAP3K6):c.1866C>A (p.Asn622Lys)	MAP3K6 (N622K +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition +1 more	GBenign
Select item 2638559	NM_004672.5(MAP3K6):c.1839C>T (p.Cys613=)	MAP3K6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267578	NM_004672.5(MAP3K6):c.1824C>G (p.His608Gln)	MAP3K6 (H608Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331121	NM_004672.5(MAP3K6):c.1763G>A (p.Cys588Tyr)	MAP3K6 (C580Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519177	NM_004672.5(MAP3K6):c.1667T>C (p.Leu556Pro)	MAP3K6 (L556P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345359	NM_004672.5(MAP3K6):c.1630C>T (p.Arg544Trp)	MAP3K6 (R536W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265130	NM_004672.5(MAP3K6):c.1624G>A (p.Glu542Lys)	MAP3K6 (E534K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775526	NM_004672.5(MAP3K6):c.1495C>T (p.Arg499Cys)	MAP3K6 (R499C +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition +1 more	GBenign
Select item 2227086	NM_004672.5(MAP3K6):c.1477C>G (p.Pro493Ala)	MAP3K6 (P485A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035484	NM_004672.5(MAP3K6):c.1467C>T (p.Pro489=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition	GLikely benign
Select item 2402911	NM_004672.5(MAP3K6):c.1463G>A (p.Arg488Lys)	MAP3K6 (R480K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037710	NM_004672.5(MAP3K6):c.1415+9C>T	MAP3K6	Single nucleotide variant (intron variant)	MAP3K6-related condition	GLikely benign
Select item 3059762	NM_004672.5(MAP3K6):c.1364C>T (p.Thr455Ile)	MAP3K6 (T447I +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2575373	NM_004672.5(MAP3K6):c.1352C>T (p.Ala451Val)	MAP3K6 (A443V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251543	NM_004672.5(MAP3K6):c.1339G>T (p.Ala447Ser)	MAP3K6 (A447S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401011	NM_004672.5(MAP3K6):c.1294G>A (p.Val432Met)	MAP3K6 (V424M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718894	NM_004672.5(MAP3K6):c.1256-2A>G	MAP3K6	Single nucleotide variant (splice acceptor variant)	MAP3K6-related condition +1 more	GLikely benign
Select item 2608033	NM_004672.5(MAP3K6):c.1219C>A (p.Gln407Lys)	MAP3K6 (Q407K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262105	NM_004672.5(MAP3K6):c.1216G>T (p.Gly406Trp)	MAP3K6 (G398W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718726	NM_004672.5(MAP3K6):c.1215C>T (p.Ala405=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition +1 more	GBenign
Select item 733210	NM_004672.5(MAP3K6):c.1182A>G (p.Ser394=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition +1 more	GLikely benign
Select item 3042635	NM_004672.5(MAP3K6):c.1162G>A (p.Val388Ile)	MAP3K6 (V380I +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GLikely benign
Select item 3038039	NM_004672.5(MAP3K6):c.1124G>A (p.Arg375Gln)	MAP3K6 (R367Q +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GBenign
Select item 2315833	NM_004672.5(MAP3K6):c.1064T>C (p.Met355Thr)	MAP3K6 (M355T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602168	NM_004672.5(MAP3K6):c.992G>A (p.Arg331Gln)	MAP3K6 (R323Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309698	NM_004672.5(MAP3K6):c.964C>G (p.Leu322Val)	MAP3K6 (L314V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464423	NM_004672.5(MAP3K6):c.803G>A (p.Ser268Asn)	MAP3K6 (S268N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454282	NM_004672.5(MAP3K6):c.790C>T (p.Arg264Trp)	MAP3K6 (R256W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464387	NM_004672.5(MAP3K6):c.767G>A (p.Arg256Gln)	MAP3K6 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733211	NM_004672.5(MAP3K6):c.744G>A (p.Glu248=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition +1 more	GLikely benign
Select item 2466727	NM_004672.5(MAP3K6):c.739C>T (p.Arg247Trp)	MAP3K6 (R239W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638560	NM_004672.5(MAP3K6):c.738G>A (p.Ala246=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition +1 more	GLikely benign
Select item 2248706	NM_004672.5(MAP3K6):c.721C>T (p.Arg241Trp)	MAP3K6 (R241W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410061	NM_004672.5(MAP3K6):c.718C>T (p.Arg240Trp)	MAP3K6 (R240W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782682	NM_004672.5(MAP3K6):c.620T>G (p.Val207Gly)	MAP3K6 (V199G +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition +1 more	GBenign
Select item 3055009	NM_004672.5(MAP3K6):c.607G>A (p.Val203Ile)	MAP3K6 (V195I +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GLikely benign
Select item 3050855	NM_004672.5(MAP3K6):c.598G>T (p.Asp200Tyr)	MAP3K6 (D192Y +1 more)	Single nucleotide variant (missense variant)	MAP3K6-related condition	GLikely benign
Select item 2275777	NM_004672.5(MAP3K6):c.578G>A (p.Gly193Asp)	MAP3K6 (G193D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264675	NM_004672.5(MAP3K6):c.545C>T (p.Thr182Met)	MAP3K6 (T174M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356802	NM_004672.5(MAP3K6):c.331T>C (p.Tyr111His)	MAP3K6 (Y111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038960	NM_004672.5(MAP3K6):c.318T>C (p.Ala106=)	MAP3K6	Single nucleotide variant (synonymous variant)	MAP3K6-related condition	GLikely benign
Select item 2517456	NM_004672.5(MAP3K6):c.289G>A (p.Gly97Arg)	MAP3K6 (G97R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309281	NM_004672.5(MAP3K6):c.257G>A (p.Arg86Gln)	MAP3K6 (R86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462094	NM_004672.5(MAP3K6):c.233C>T (p.Ala78Val)	MAP3K6 (A78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333776	NM_004672.5(MAP3K6):c.218G>A (p.Arg73His)	MAP3K6 (R73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307469	NM_004672.5(MAP3K6):c.188A>G (p.Glu63Gly)	MAP3K6 (E63G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322684	NM_004672.5(MAP3K6):c.187G>A (p.Glu63Lys)	MAP3K6 (E63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214466	NM_004672.5(MAP3K6):c.109C>G (p.Arg37Gly)	MAP3K6 (R37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262351	NM_004672.5(MAP3K6):c.22T>G (p.Ser8Ala)	MAP3K6 (S8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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