MAP3K2[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
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 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 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 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 2232880	NM_001371910.2(MAP3K2):c.1819G>A (p.Ala607Thr)	MAP3K2 (A607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293044	NM_001371910.2(MAP3K2):c.1786C>T (p.Arg596Trp)	MAP3K2 (R596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318013	NM_001371910.2(MAP3K2):c.1765T>C (p.Tyr589His)	MAP3K2 (Y589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346061	NM_001371910.2(MAP3K2):c.1699A>G (p.Met567Val)	MAP3K2 (M567V)	Single nucleotide variant (missense variant)	MAP3K2-related condition	GUncertain significance
Select item 3122930	NM_001371910.2(MAP3K2):c.1630A>G (p.Ile544Val)	MAP3K2 (I544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613544	NM_001371910.2(MAP3K2):c.1554G>C (p.Met518Ile)	MAP3K2 (M518I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232022	NM_001371910.2(MAP3K2):c.1535G>C (p.Cys512Ser)	MAP3K2 (C512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293046	NM_001371910.2(MAP3K2):c.1532T>G (p.Ile511Ser)	MAP3K2 (I511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458126	NM_001371910.2(MAP3K2):c.1459G>A (p.Ala487Thr)	MAP3K2 (A487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403810	NM_001371910.2(MAP3K2):c.1327G>A (p.Gly443Ser)	MAP3K2 (G443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122929	NM_001371910.2(MAP3K2):c.1307T>A (p.Phe436Tyr)	MAP3K2 (F436Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713753	NM_001371910.2(MAP3K2):c.1266T>C (p.Tyr422=)	MAP3K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496522	NM_001371910.2(MAP3K2):c.1174G>A (p.Asp392Asn)	MAP3K2 (D392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512566	NM_001371910.2(MAP3K2):c.1123G>A (p.Asp375Asn)	MAP3K2 (D375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353688	NM_001371910.2(MAP3K2):c.1112A>G (p.Tyr371Cys)	MAP3K2 (Y371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712362	NM_001371910.2(MAP3K2):c.879C>A (p.Thr293=)	MAP3K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3122931	NM_001371910.2(MAP3K2):c.857G>T (p.Arg286Ile)	MAP3K2 (R286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364822	NM_001371910.2(MAP3K2):c.557T>A (p.Ile186Asn)	MAP3K2 (I186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293042	NM_001371910.2(MAP3K2):c.533C>T (p.Ala178Val)	MAP3K2 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235020	NM_001371910.2(MAP3K2):c.388T>A (p.Leu130Ile)	MAP3K2 (L130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536518	NM_001371910.2(MAP3K2):c.358G>T (p.Val120Leu)	MAP3K2 (V120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275322	NM_001371910.2(MAP3K2):c.341G>A (p.Ser114Asn)	MAP3K2 (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455388	NM_001371910.2(MAP3K2):c.130G>A (p.Val44Ile)	MAP3K2 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293045	NM_001371910.2(MAP3K2):c.34C>A (p.Gln12Lys)	MAP3K2 (Q12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
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 1526896	GRCh37/hg19 2q14.3(chr2:128024782-129332242)	AMMECR1L, ERCC3 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1410231	NC_000002.11:g.(?_127806102)_(128432598_?)del	BIN1, CYP27C1 +7 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	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 1339795	GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3	BIN1, CYP27C1 +2 more	Copy number gain	not provided	Gnot provided
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 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: 53