Related gene-specific medical variations for Gene (Select 2202) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441181	NM_001039348.3(EFEMP1):c.1339G>T (p.Ala447Ser)	EFEMP1 (A447S)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 687478	GRCh37/hg19 2p16.1(chr2:56141398-56152467)x1	EFEMP1	Copy number loss	not provided	GUncertain significance
Select item 685288	GRCh37/hg19 2p16.1(chr2:55999614-56152467)x1	EFEMP1	Copy number loss	not provided	GUncertain significance

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