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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 853152	NM_001354768.3(NRL):c.654del (p.Cys219fs)	LOC130055387, NRL (C219fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866708	NM_001354768.3(NRL):c.620G>A (p.Arg207His)	LOC130055387, NRL (R102H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 866063	NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter)	LOC130055387, NRL (Y67* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866883	NM_001354768.3(NRL):c.377T>G (p.Val126Gly)	NRL (V126G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 39510	NM_001354768.3(NRL):c.287T>C (p.Met96Thr)	NRL (M96T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866730	NM_001354768.3(NRL):c.73C>T (p.Arg25Trp)	NRL (R25W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance

ClinVar