"Blueprint Genetics"[submitter] AND "CYP4V2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866106	NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro)	CYP4V2 (L65P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 39259	NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)	CYP4V2 (E79D)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 39264	NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)	CYP4V2 (M123V)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866939	NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter)	CYP4V2 (R232*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 866305	NM_207352.4(CYP4V2):c.792dup (p.Thr265fs)	CYP4V2 (T265fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 39271	NM_207352.4(CYP4V2):c.802-8_810delinsGC	CYP4V2	Indel	Retinal dystrophy +2 more	GPathogenic
Select item 39275	NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)	CYP4V2 (H331P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic

ClinVar