C2681923[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437944	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2 (R118C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 10546	NM_006915.3(RP2):c.353G>A (p.Arg118His)	RP2 (R118H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2 (R120*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2 (I137del)	Deletion (inframe_deletion)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866167	NM_006915.3(RP2):c.768G>C (p.Glu256Asp)	RP2 (E256D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar