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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812366	NM_000440.3(PDE6A):c.2506+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 812367	NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs)	PDE6A (E694fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812368	NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)	PDE6A (Q654*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GPathogenic
Select item 437983	NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	PDE6A (R653*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic
Select item 281323	NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)	PDE6A (S303C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 437984	NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	PDE6A (R257*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 812369	NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs)	PDE6A (D137fs)	Indel (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity

ClinVar