ClinVar for Gene (Select 2938) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 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 747861	NM_145740.5(GSTA1):c.174T>G (p.Val58=)	GSTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 718439	NM_145740.5(GSTA1):c.272+4C>T	GSTA1	Single nucleotide variant (intron variant)	not provided	GBenign
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
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 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30