"Molecular Genetics Laboratory, Institute for Ophthalmic Research"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813219	NM_006915.3(RP2):c.40del (p.Glu14fs)	LOC130068202, RP2 (E14fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 813218	NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer)	RP2	Microsatellite (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 587389	NM_006915.3(RP2):c.314G>A (p.Cys105Tyr)	RP2 (C105Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GUncertain significance
Select item 547076	NM_006915.3(RP2):c.365G>A (p.Cys122Tyr)	RP2 (C122Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 813220	NM_006915.3(RP2):c.529_533del (p.Phe177fs)	RP2 (F177fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 813221	NM_006915.3(RP2):c.969+1dup	RP2	Duplication (splice donor variant)	Retinitis pigmentosa	GPathogenic

ClinVar