GSTM3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 2515079	NM_000849.5(GSTM3):c.580G>C (p.Ala194Pro)	GSTM3 (A194P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236585	NM_000849.5(GSTM3):c.567G>A (p.Met189Ile)	GSTM3 (M189I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102982	NM_000849.5(GSTM3):c.422A>G (p.Gln141Arg)	GSTM3 (Q141R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102981	NM_000849.5(GSTM3):c.376A>C (p.Lys126Gln)	GSTM3 (K126Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229558	NM_000849.5(GSTM3):c.344T>C (p.Leu115Pro)	GSTM3 (L115P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283017	NM_000849.5(GSTM3):c.335G>A (p.Arg112His)	GSTM3 (R112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102980	NM_000849.5(GSTM3):c.253G>A (p.Ala85Thr)	GSTM3 (A85T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470459	NM_000849.5(GSTM3):c.244C>T (p.Arg82Cys)	GSTM3 (R82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475111	NM_000849.5(GSTM3):c.123A>T (p.Glu41Asp)	GSTM3 (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264969	NM_000849.5(GSTM3):c.20T>C (p.Met7Thr)	GSTM3, LOC129931114 (M7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340792	GRCh37/hg19 1p13.3(chr1:110178180-110278171)x1	GSTM1, GSTM2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394772	GRCh37/hg19 1p13.3(chr1:110277633-110283553)x1	GSTM3	Copy number loss	See cases	GUncertain significance

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Items: 30