"Blueprint Genetics"[submitter] AND "EFEMP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866024	NM_001039348.3(EFEMP1):c.1430G>A (p.Arg477His)	EFEMP1 (R477H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866535	NM_001039348.3(EFEMP1):c.1365A>T (p.Leu455Phe)	EFEMP1 (L455F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8072	NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	EFEMP1 (R345W)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 865993	NM_001039348.3(EFEMP1):c.678A>C (p.Gln226His)	EFEMP1 (Q226H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 866486	NM_001039348.3(EFEMP1):c.339G>T (p.Leu113Phe)	EFEMP1 (L113F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar