"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191246	NM_006915.3(RP2):c.2T>C (p.Met1Thr)	LOC130068202, RP2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 812402	NM_006915.3(RP2):c.25_28del (p.Lys10fs)	LOC130068202, RP2 (K10fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812403	NM_006915.3(RP2):c.102+1G>T	RP2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 812404	NM_006915.3(RP2):c.328T>C (p.Cys110Arg)	RP2 (C110R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2 (R120*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 812405	NM_006915.3(RP2):c.364del (p.Cys122fs)	RP2 (C122fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812406	NM_006915.3(RP2):c.530_531del (p.Phe177fs)	RP2 (F177fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic

ClinVar