ClinVar for Gene (Select 2944) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102976	NM_000561.4(GSTM1):c.377A>C (p.Lys126Thr)	GSTM1 (K126T)	Single nucleotide variant (missense variant)	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 3030837	NM_000561.4(GSTM1):c.244C>T (p.Arg82Cys)	GSTM1 (R82C)	Single nucleotide variant (missense variant)	GSTM1-related disorder	GLikely benign
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 2638985	NM_000561.4(GSTM1):c.433C>T (p.Arg145Trp)	GSTM1 (R145W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604182	NM_000561.4(GSTM1):c.20A>G (p.Tyr7Cys)	GSTM1, LOC129931113 (Y7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542421	NM_000561.4(GSTM1):c.518A>G (p.Lys173Arg)	GSTM1 (K173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 769520	NM_000561.4(GSTM1):c.314T>C (p.Met105Thr)	GSTM1 (M105T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769519	NM_000561.4(GSTM1):c.287G>T (p.Arg96Leu)	GSTM1 (R96L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754642	NM_000561.4(GSTM1):c.45C>A (p.His15Gln)	GSTM1 (H15Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741106	NM_000561.4(GSTM1):c.475C>G (p.Leu159Val)	GSTM1 (L159V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	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 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 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
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 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28