ClinVar for MedGen (Select 409919) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294422	NM_001039348.3(EFEMP1):c.1480T>C (p.Ter494Gln)	EFEMP1	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 1294421	NM_001039348.3(EFEMP1):c.238A>T (p.Asn80Tyr)	EFEMP1 (N80Y)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, H +1 more	GPathogenic
Select item 197709	NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)	EFEMP1 (R140W)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +2 more	GUncertain significance

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