MAP3K19[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3122928	NM_025052.5(MAP3K19):c.3962A>G (p.His1321Arg)	MAP3K19 (H1208R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122926	NM_025052.5(MAP3K19):c.3927G>C (p.Gln1309His)	MAP3K19 (Q443H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217369	NM_025052.5(MAP3K19):c.3904C>T (p.Arg1302Cys)	MAP3K19 (R1189C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466551	NM_025052.5(MAP3K19):c.3848G>A (p.Arg1283Gln)	MAP3K19 (R1170Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122925	NM_025052.5(MAP3K19):c.3838G>A (p.Gly1280Arg)	MAP3K19 (G1167R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122924	NM_025052.5(MAP3K19):c.3790A>G (p.Lys1264Glu)	MAP3K19 (K1151E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261178	NM_025052.5(MAP3K19):c.3509T>C (p.Ile1170Thr)	MAP3K19 (I302T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122923	NM_025052.5(MAP3K19):c.3502A>G (p.Lys1168Glu)	MAP3K19 (K300E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547604	NM_025052.5(MAP3K19):c.3334G>A (p.Val1112Ile)	MAP3K19 (V294I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232885	NM_025052.5(MAP3K19):c.3217G>A (p.Gly1073Ser)	MAP3K19 (G1073S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529436	NM_025052.5(MAP3K19):c.3101A>G (p.Asp1034Gly)	MAP3K19 (D1051G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360234	NM_025052.5(MAP3K19):c.2972T>C (p.Met991Thr)	MAP3K19 (M991T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122922	NM_025052.5(MAP3K19):c.2939T>C (p.Leu980Pro)	MAP3K19 (L980P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553302	NM_025052.5(MAP3K19):c.2869A>G (p.Met957Val)	MAP3K19 (M974V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265658	NM_025052.5(MAP3K19):c.2805G>C (p.Lys935Asn)	MAP3K19 (K952N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240044	NM_025052.5(MAP3K19):c.2629T>A (p.Ser877Thr)	MAP3K19 (S894T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122921	NM_025052.5(MAP3K19):c.2607G>T (p.Gln869His)	MAP3K19 (Q869H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240288	NM_025052.5(MAP3K19):c.2561A>G (p.Asp854Gly)	MAP3K19 (D871G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351090	NM_025052.5(MAP3K19):c.2426T>C (p.Ile809Thr)	MAP3K19 (I809T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122920	NM_025052.5(MAP3K19):c.2423C>G (p.Ser808Cys)	MAP3K19 (S695C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332793	NM_025052.5(MAP3K19):c.2368C>G (p.Gln790Glu)	MAP3K19 (Q790E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122917	NM_025052.5(MAP3K19):c.2305A>G (p.Ile769Val)	MAP3K19 (I656V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410525	NM_025052.5(MAP3K19):c.2171A>C (p.Lys724Thr)	MAP3K19 (K611T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122916	NM_025052.5(MAP3K19):c.2095A>G (p.Asn699Asp)	MAP3K19 (N586D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321394	NM_025052.5(MAP3K19):c.2057G>A (p.Arg686His)	MAP3K19 (R686H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122915	NM_025052.5(MAP3K19):c.2056C>T (p.Arg686Cys)	MAP3K19 (R573C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481087	NM_025052.5(MAP3K19):c.2040T>G (p.Asp680Glu)	MAP3K19 (D680E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476511	NM_025052.5(MAP3K19):c.2019T>A (p.His673Gln)	MAP3K19 (H560Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122914	NM_025052.5(MAP3K19):c.1933A>G (p.Lys645Glu)	MAP3K19 (K532E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610488	NM_025052.5(MAP3K19):c.1886C>T (p.Pro629Leu)	MAP3K19 (P516L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358066	NM_025052.5(MAP3K19):c.1814G>A (p.Arg605Gln)	MAP3K19 (R605Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3122913	NM_025052.5(MAP3K19):c.1813C>T (p.Arg605Trp)	MAP3K19 (R605W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559434	NM_025052.5(MAP3K19):c.1724C>T (p.Pro575Leu)	MAP3K19 (P592L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228071	NM_025052.5(MAP3K19):c.1666A>G (p.Thr556Ala)	MAP3K19 (T443A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122912	NM_025052.5(MAP3K19):c.1645C>A (p.Pro549Thr)	MAP3K19 (P436T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297473	NM_025052.5(MAP3K19):c.1619C>T (p.Ser540Leu)	MAP3K19 (S540L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122911	NM_025052.5(MAP3K19):c.1547A>G (p.His516Arg)	MAP3K19 (H403R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290994	NM_025052.5(MAP3K19):c.1418G>A (p.Arg473Lys)	MAP3K19 (R360K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595298	NM_025052.5(MAP3K19):c.1409T>C (p.Ile470Thr)	MAP3K19 (I357T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2467191	NM_025052.5(MAP3K19):c.1310G>T (p.Cys437Phe)	MAP3K19 (C454F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225034	NM_025052.5(MAP3K19):c.1282A>T (p.Met428Leu)	MAP3K19 (M428L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384302	NM_025052.5(MAP3K19):c.1271A>T (p.Lys424Ile)	MAP3K19 (K441I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122909	NM_025052.5(MAP3K19):c.1160T>C (p.Val387Ala)	MAP3K19 (V404A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206304	NM_025052.5(MAP3K19):c.787G>A (p.Glu263Lys)	MAP3K19 (E263K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2620235	NM_025052.5(MAP3K19):c.680A>G (p.Asn227Ser)	MAP3K19 (N227S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333637	NM_025052.5(MAP3K19):c.679A>G (p.Asn227Asp)	MAP3K19 (N114D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539428	NM_025052.5(MAP3K19):c.526A>G (p.Arg176Gly)	MAP3K19 (R176G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622411	NM_025052.5(MAP3K19):c.497T>C (p.Leu166Ser)	MAP3K19 (L166S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362158	NM_025052.5(MAP3K19):c.392T>G (p.Leu131Arg)	MAP3K19 (L148R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651380	NM_025052.5(MAP3K19):c.372T>C (p.Asn124=)	MAP3K19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302760	NM_025052.5(MAP3K19):c.344C>T (p.Ala115Val)	MAP3K19 (A115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526902	GRCh37/hg19 2q21.3(chr2:135729714-135785684)	MAP3K19	Copy number loss	not specified	GUncertain significance
Select item 1526901	GRCh37/hg19 2q21.3(chr2:135728952-135788414)	MAP3K19	Copy number loss	not specified	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 688634	GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3	CCNT2, CXCR4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 68