GSTM2[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 2326857	NM_000848.4(GSTM2):c.28A>T (p.Ile10Phe)	GSTM2, LOC129931111 (I10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102979	NM_000848.4(GSTM2):c.71C>T (p.Thr24Ile)	GSTM2 (T24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524443	NM_000848.4(GSTM2):c.124G>A (p.Asp42Asn)	GSTM2 (D42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462499	NM_000848.4(GSTM2):c.151T>C (p.Phe51Leu)	GSTM2 (F51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733618	NM_000848.4(GSTM2):c.234G>C (p.Arg78=)	GSTM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775572	NM_000848.4(GSTM2):c.259+3G>A	GSTM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3102977	NM_000848.4(GSTM2):c.322C>G (p.Arg108Gly)	GSTM2 (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306787	NM_000848.4(GSTM2):c.413A>G (p.Tyr138Cys)	GSTM2 (Y138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557426	NM_000848.4(GSTM2):c.484G>T (p.Asp162Tyr)	GSTM2 (D162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300584	NM_000848.4(GSTM2):c.587C>A (p.Ala196Asp)	GSTM2 (A196D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638984	NM_000848.4(GSTM2):c.654G>A (p.Lys218=)	GSTM2, GSTM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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Items: 30