GSTA1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 3102945	NM_145740.5(GSTA1):c.587A>G (p.Lys196Arg)	GSTA1 (K196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283000	NM_145740.5(GSTA1):c.578C>T (p.Thr193Ile)	GSTA1 (T193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282998	NM_145740.5(GSTA1):c.567C>G (p.Ser189Arg)	GSTA1 (S96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235306	NM_145740.5(GSTA1):c.445G>A (p.Val149Ile)	GSTA1 (V149I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102944	NM_145740.5(GSTA1):c.395A>G (p.Tyr132Cys)	GSTA1 (Y132C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548429	NM_145740.5(GSTA1):c.391C>T (p.Arg131Cys)	GSTA1 (R131C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318171	NM_145740.5(GSTA1):c.306G>T (p.Leu102Phe)	GSTA1 (L9F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102943	NM_145740.5(GSTA1):c.305T>C (p.Leu102Ser)	GSTA1 (L102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102942	NM_145740.5(GSTA1):c.299C>A (p.Ala100Glu)	GSTA1 (A7E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599962	NM_145740.5(GSTA1):c.283T>C (p.Tyr95His)	GSTA1 (Y2H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718439	NM_145740.5(GSTA1):c.272+4C>T	GSTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262622	NM_145740.5(GSTA1):c.205A>G (p.Arg69Gly)	GSTA1 (R69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 747861	NM_145740.5(GSTA1):c.174T>G (p.Val58=)	GSTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2519008	NM_145740.5(GSTA1):c.55A>G (p.Thr19Ala)	GSTA1 (T19A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3282999	NM_145740.5(GSTA1):c.49G>A (p.Glu17Lys)	GSTA1 (E17K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387710	NM_145740.5(GSTA1):c.37C>T (p.Arg13Trp)	GSTA1 (R13W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 726193	NM_145740.5(GSTA1):c.15C>T (p.Pro5=)	GSTA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	CILK1, EFHC1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979547	GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3	CILK1, ELOVL5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979546	GRCh37/hg19 6p12.2(chr6:52653495-52860229)x3	GSTA5, GSTA1 +2 more	Copy number gain	not provided	GLikely benign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394568	GRCh37/hg19 6p12.2(chr6:52615096-52657414)x3	GSTA1, GSTA2	Copy number gain	See cases	GBenign

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Items: 30