ClinVar for Gene (Select 2730) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281024	NM_002061.4(GCLM):c.720C>A (p.His240Gln)	GCLM (H240Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281023	NM_002061.4(GCLM):c.113C>T (p.Thr38Met)	GCLM, LOC129930969 (T38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2355643	NM_002061.4(GCLM):c.421G>C (p.Glu141Gln)	GCLM (E119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265947	NM_002061.4(GCLM):c.406G>C (p.Val136Leu)	GCLM (V136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979885	GRCh37/hg19 1p22.1(chr1:94216477-94471075)x3	ABCA4, BCAR3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 832390	NC_000001.11:g.(?_93909038)_(94063317_?)dup	ABCA4, GCLM	Duplication	not provided	GUncertain significance
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565126	GRCh37/hg19 1p22.1(chr1:93986681-94575458)x3	ABCA4, BCAR3 +3 more	Copy number gain	not provided	GUncertain significance
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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 91938	NM_002061.4(GCLM):c.748T>G (p.Tyr250Asp)	GCLM (Y250D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8366	NC_000001.11:g.93909753G>A	GCLM, LOC129930970	Single nucleotide variant (genic upstream transcript variant)	Myocardial infarction, susceptibility to	Grisk factor