STAC2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2529242	NM_198993.5(STAC2):c.1202G>A (p.Gly401Asp)	STAC2 (G259D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533042	NM_198993.5(STAC2):c.1138G>A (p.Val380Met)	STAC2 (V380M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170857	NM_198993.5(STAC2):c.1111A>G (p.Met371Val)	STAC2 (M229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170856	NM_198993.5(STAC2):c.1081C>G (p.Pro361Ala)	STAC2 (P361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477475	NM_198993.5(STAC2):c.1069C>T (p.Arg357Cys)	STAC2 (R357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330559	NM_198993.5(STAC2):c.1060A>G (p.Asn354Asp)	STAC2 (N354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170855	NM_198993.5(STAC2):c.1050G>C (p.Arg350Ser)	STAC2 (R208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374463	NM_198993.5(STAC2):c.892G>A (p.Val298Ile)	STAC2 (V156I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170862	NM_198993.5(STAC2):c.863G>A (p.Arg288Gln)	STAC2 (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285125	NM_198993.5(STAC2):c.746G>A (p.Ser249Asn)	STAC2 (S107N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263344	NM_198993.5(STAC2):c.632G>A (p.Gly211Asp)	STAC2 (G69D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425129	NM_198993.5(STAC2):c.597_604del (p.Lys200fs)	STAC2 (K58fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2390776	NM_198993.5(STAC2):c.592A>G (p.Ser198Gly)	STAC2 (S198G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367932	NM_198993.5(STAC2):c.511C>T (p.Arg171Cys)	STAC2 (R29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170861	NM_198993.5(STAC2):c.488G>C (p.Gly163Ala)	STAC2 (G21A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170860	NM_198993.5(STAC2):c.403T>G (p.Ser135Ala)	STAC2 (S135A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549965	NM_198993.5(STAC2):c.305T>C (p.Leu102Pro)	STAC2 (L102P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516605	NM_198993.5(STAC2):c.301C>G (p.Pro101Ala)	STAC2 (P101A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208390	NM_198993.5(STAC2):c.257G>A (p.Arg86Lys)	STAC2 (R86K)	Single nucleotide variant (missense variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 425130	NM_198993.5(STAC2):c.239C>G (p.Pro80Arg)	STAC2 (P80R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 623451	NM_198993.5(STAC2):c.208C>T (p.Pro70Ser)	STAC2 (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347706	NM_198993.5(STAC2):c.206C>T (p.Thr69Met)	STAC2 (T69M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516593	NM_198993.5(STAC2):c.185G>A (p.Cys62Tyr)	STAC2 (C62Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170859	NM_198993.5(STAC2):c.164G>A (p.Arg55His)	STAC2 (R55H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2460809	NM_198993.5(STAC2):c.134G>A (p.Arg45Gln)	STAC2 (R45Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685601	GRCh37/hg19 17q12(chr17:37371649-37472292)x1	FBXL20, STAC2	Copy number loss	not provided	GUncertain significance
Select item 815934	GRCh37/hg19 17q12(chr17:37323328-37551861)x3	CACNB1, STAC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395132	GRCh37/hg19 17q12(chr17:37381717-37596822)x3	FBXL20, MED1 +1 more	Copy number gain	See cases	GBenign
Select item 394940	GRCh37/hg19 17q12(chr17:37360440-37381717)x3	RPL19, STAC2	Copy number gain	See cases	GUncertain significance

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Items: 39