ClinVar for Gene (Select 2941) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283009	NM_001512.4(GSTA4):c.442C>G (p.Leu148Val)	GSTA4 (L148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283008	NM_001512.4(GSTA4):c.627T>G (p.Asp209Glu)	GSTA4 (D209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283007	NM_001512.4(GSTA4):c.44G>A (p.Arg15Gln)	GSTA4 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283006	NM_001512.4(GSTA4):c.399T>G (p.Phe133Leu)	GSTA4 (F133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102962	NM_001512.4(GSTA4):c.589T>G (p.Phe197Val)	GSTA4 (F197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102961	NM_001512.4(GSTA4):c.569A>G (p.Asn190Ser)	GSTA4 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102960	NM_001512.4(GSTA4):c.433C>A (p.Gln145Lys)	GSTA4 (Q145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102959	NM_001512.4(GSTA4):c.381G>T (p.Lys127Asn)	GSTA4 (K127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102958	NM_001512.4(GSTA4):c.180T>G (p.Ile60Met)	GSTA4 (I60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102957	NM_001512.4(GSTA4):c.118C>G (p.Gln40Glu)	GSTA4 (Q40E)	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 2481995	NM_001512.4(GSTA4):c.323T>C (p.Met108Thr)	GSTA4 (M108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319523	NM_001512.4(GSTA4):c.136G>A (p.Asp46Asn)	GSTA4 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289603	NM_001512.4(GSTA4):c.286G>A (p.Val96Met)	GSTA4 (V96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209065	NM_001512.4(GSTA4):c.181G>A (p.Asp61Asn)	GSTA4 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204793	NM_001512.4(GSTA4):c.24C>G (p.His8Gln)	GSTA4 (H8Q)	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 814813	GRCh37/hg19 6p12.2-12.1(chr6:52810337-53016306)x3	RN7SK, CILK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 779335	NM_001512.4(GSTA4):c.334T>C (p.Leu112=)	GSTA4	Single nucleotide variant (synonymous 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 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

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Links from Gene

Items: 29