ClinVar for Gene (Select 7786) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324413	NM_134323.2(TARBP2):c.37G>A (p.Gly13Ser)	MAP3K12, TARBP2 (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293009	NM_001193511.2(MAP3K12):c.1163C>T (p.Pro388Leu)	MAP3K12 (P355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293008	NM_001193511.2(MAP3K12):c.2162G>A (p.Arg721Gln)	MAP3K12 (R688Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293007	NM_001193511.2(MAP3K12):c.2024C>A (p.Thr675Asn)	MAP3K12 (T675N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293006	NM_001193511.2(MAP3K12):c.1183C>G (p.Leu395Val)	MAP3K12 (L395V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173863	NM_134323.2(TARBP2):c.44G>A (p.Gly15Glu)	MAP3K12, TARBP2 (G15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122855	NM_001193511.2(MAP3K12):c.8G>C (p.Cys3Ser)	MAP3K12 (C3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122854	NM_001193511.2(MAP3K12):c.85C>G (p.Leu29Val)	MAP3K12 (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122853	NM_001193511.2(MAP3K12):c.2140G>C (p.Gly714Arg)	MAP3K12 (G681R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122851	NM_001193511.2(MAP3K12):c.1909C>T (p.Arg637Cys)	MAP3K12 (R604C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122850	NM_001193511.2(MAP3K12):c.1715G>A (p.Arg572Gln)	MAP3K12 (R539Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2608671	NM_001193511.2(MAP3K12):c.2482G>A (p.Gly828Ser)	MAP3K12 (G795S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598963	NM_134323.2(TARBP2):c.25G>A (p.Gly9Ser)	MAP3K12, TARBP2 (G9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571639	NM_001193511.2(MAP3K12):c.1099A>G (p.Ser367Gly)	MAP3K12 (S334G +1 more)	Single nucleotide variant (missense variant)	Falls +1 more	GUncertain significance
Select item 2529351	NM_001193511.2(MAP3K12):c.1606A>C (p.Ser536Arg)	MAP3K12 (S503R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482201	NM_001193511.2(MAP3K12):c.217C>A (p.Pro73Thr)	MAP3K12 (P73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479215	NM_001193511.2(MAP3K12):c.2183C>T (p.Ser728Phe)	MAP3K12 (S695F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458925	NM_001193511.2(MAP3K12):c.1721G>A (p.Arg574His)	MAP3K12 (R541H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396615	NM_134323.2(TARBP2):c.47T>C (p.Leu16Pro)	MAP3K12, TARBP2 (L16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385921	NM_001193511.2(MAP3K12):c.1730A>G (p.Lys577Arg)	MAP3K12 (K544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379144	NM_134323.2(TARBP2):c.52A>G (p.Ser18Gly)	MAP3K12, TARBP2 (S18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368141	NM_001193511.2(MAP3K12):c.1981G>A (p.Gly661Arg)	MAP3K12 (G628R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2361204	NM_001193511.2(MAP3K12):c.1585C>A (p.Pro529Thr)	MAP3K12 (P496T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354124	NM_001193511.2(MAP3K12):c.2171G>T (p.Ser724Ile)	MAP3K12 (S691I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349289	NM_001193511.2(MAP3K12):c.1574A>G (p.Lys525Arg)	MAP3K12 (K525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301502	NM_001193511.2(MAP3K12):c.526C>T (p.Arg176Cys)	MAP3K12 (R176C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295309	NM_001193511.2(MAP3K12):c.2411G>T (p.Gly804Val)	MAP3K12 (G771V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283491	NM_001193511.2(MAP3K12):c.1936C>A (p.Leu646Met)	MAP3K12 (L613M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279311	NM_001193511.2(MAP3K12):c.1960C>T (p.Arg654Trp)	MAP3K12 (R621W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276609	NM_001193511.2(MAP3K12):c.1987G>A (p.Gly663Arg)	MAP3K12 (G630R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264923	NM_001193511.2(MAP3K12):c.1967G>A (p.Arg656Gln)	MAP3K12 (R656Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233718	NM_001193511.2(MAP3K12):c.1924T>C (p.Ser642Pro)	MAP3K12 (S609P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208687	NM_001193511.2(MAP3K12):c.292C>T (p.Pro98Ser)	MAP3K12 (P65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710465	NM_001193511.2(MAP3K12):c.389_390del (p.Pro130fs)	MAP3K12 (P130fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1675501	NM_001193511.2(MAP3K12):c.2549_2550del (p.Pro850fs)	MAP3K12 (P817fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 716174	NM_001193511.2(MAP3K12):c.2017G>A (p.Gly673Ser)	MAP3K12 (G640S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49