MAP3K3[Gene Name] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1271201	NM_002401.5(MAP3K3):c.5-31G>A	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221866	NM_002401.5(MAP3K3):c.126+67G>T	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2402386	NM_002401.5(MAP3K3):c.126+1922A>G	MAP3K3 (S48G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366262	NM_002401.5(MAP3K3):c.126+1944G>A	MAP3K3 (S55N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395972	NM_002401.5(MAP3K3):c.126+1967T>C	MAP3K3 (C63R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1253109	NM_002401.5(MAP3K3):c.127-256_127-247del	MAP3K3	Deletion (intron variant)	not provided	GBenign
Select item 150795	GRCh38/hg38 17q23.3(chr17:63648253-63855879)x3	CCDC47, DDX42 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1227056	NM_002401.5(MAP3K3):c.168-35A>G	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2279700	NM_002401.5(MAP3K3):c.246T>A (p.Asp82Glu)	MAP3K3 (D113E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1244132	NM_002401.5(MAP3K3):c.268-98T>C	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2302255	NM_002401.5(MAP3K3):c.311T>C (p.Ile104Thr)	MAP3K3 (I135T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275005	NM_002401.5(MAP3K3):c.381+66C>T	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247823	NM_002401.5(MAP3K3):c.382-260A>G	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2463327	NM_002401.5(MAP3K3):c.442G>T (p.Ala148Ser)	MAP3K3 (A148S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411305	NM_002401.5(MAP3K3):c.455A>G (p.Asn152Ser)	MAP3K3 (N183S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1181474	NM_002401.5(MAP3K3):c.710+81G>C	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250681	NM_002401.5(MAP3K3):c.710+235T>C	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236011	NM_002401.5(MAP3K3):c.710+258A>G	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237797	NM_002401.5(MAP3K3):c.711-212T>C	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031148	NM_002401.5(MAP3K3):c.714A>C (p.Pro238=)	MAP3K3	Single nucleotide variant (synonymous variant)	MAP3K3-related condition	GLikely benign
Select item 2590217	NM_002401.5(MAP3K3):c.803A>G (p.Lys268Arg)	MAP3K3 (K264R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210387	NM_002401.5(MAP3K3):c.829C>T (p.Arg277Trp)	MAP3K3 (R308W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456808	NM_002401.5(MAP3K3):c.833G>A (p.Arg278His)	MAP3K3 (R278H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713294	NM_002401.5(MAP3K3):c.841G>A (p.Val281Met)	MAP3K3 (V308M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225444	NM_002401.5(MAP3K3):c.871+216T>G	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248554	NM_002401.5(MAP3K3):c.872-24C>A	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2229691	NM_002401.5(MAP3K3):c.899G>A (p.Arg300His)	MAP3K3 (R327H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717040	NM_002401.5(MAP3K3):c.933C>T (p.Ser311=)	MAP3K3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2367957	NM_002401.5(MAP3K3):c.960G>C (p.Glu320Asp)	MAP3K3 (E347D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617493	NM_002401.5(MAP3K3):c.966G>A (p.Met322Ile)	MAP3K3 (M349I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479253	NM_002401.5(MAP3K3):c.968G>A (p.Gly323Asp)	MAP3K3 (G323D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393576	NM_002401.5(MAP3K3):c.1049A>G (p.Asn350Ser)	MAP3K3 (N381S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612964	NM_002401.5(MAP3K3):c.1120G>A (p.Gly374Ser)	MAP3K3 (G370S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241632	NM_002401.5(MAP3K3):c.1313C>A (p.Thr438Asn)	MAP3K3 (T434N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691386	NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)	MAP3K3 (I437M +3 more)	Single nucleotide variant (missense variant)	Verrucous hemangioma +1 more	GPathogenic/Likely pathogenic
Select item 2365092	NM_002401.5(MAP3K3):c.1431G>A (p.Met477Ile)	MAP3K3 (M473I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337421	NM_002401.5(MAP3K3):c.1463G>A (p.Arg488Gln)	MAP3K3 (R515Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1290041	NM_002401.5(MAP3K3):c.1475-146T>C	MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780446	NM_002401.5(MAP3K3):c.1560G>A (p.Ser520=)	MAP3K3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589661	NM_002401.5(MAP3K3):c.1573C>T (p.Arg525Cys)	MAP3K3 (R552C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1179691	NM_002401.5(MAP3K3):c.1652+213T>C	LOC130061396, MAP3K3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768907	NM_002401.5(MAP3K3):c.1698G>A (p.Pro566=)	LOC130061397, MAP3K3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264508	NM_002401.5(MAP3K3):c.1761G>C (p.Gln587His)	LOC130061397, MAP3K3 (Q618H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757648	NM_002401.5(MAP3K3):c.1791G>A (p.Arg597=)	LOC130061397, MAP3K3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252358	NM_002401.5(MAP3K3):c.1823G>A (p.Arg608His)	LOC130061397, MAP3K3 (R635H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488431	NM_002401.5(MAP3K3):c.1873A>C (p.Met625Leu)	LOC130061397, MAP3K3 (M656L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 55