ClinVar for Gene (Select 2948) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2858562	NM_000850.5(GSTM4):c.657A>G (p.Ter219=)	GSTM4	Single nucleotide variant (intron variant +2 more)	not provided	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 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 2594814	NM_000850.5(GSTM4):c.400A>G (p.Met134Val)	GSTM4 (M134V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588924	NM_000850.5(GSTM4):c.529G>T (p.Ala177Ser)	GSTM4 (A177S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530206	NM_000850.5(GSTM4):c.282G>T (p.Lys94Asn)	GSTM4 (K94N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467652	NM_000850.5(GSTM4):c.338G>C (p.Arg113Thr)	GSTM4 (R113T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464597	NM_000850.5(GSTM4):c.559C>T (p.Arg187Cys)	GSTM4 (R187C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2409754	NM_000850.5(GSTM4):c.343T>G (p.Cys115Gly)	GSTM4 (C115G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288813	NM_000850.5(GSTM4):c.349A>C (p.Ser117Arg)	GSTM4 (S117R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232871	NM_000850.5(GSTM4):c.368T>G (p.Leu123Arg)	GSTM4 (L123R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220613	NM_000850.5(GSTM4):c.10A>G (p.Thr4Ala)	GSTM4 (T4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +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 +332 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30