"Ocular Genomics Institute, Massachusetts Eye and Ear"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866869	NM_000440.3(PDE6A):c.2506+7G>A	PDE6A	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 195462	NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	PDE6A (D778fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 194473	NM_000440.3(PDE6A):c.1926+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic
Select item 167431	NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	PDE6A (Q569K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1065736	NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)	PDE6A (G568R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 817435	NM_000440.3(PDE6A):c.1097del (p.Asp366fs)	PDE6A (D366fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
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 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1065769	NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)	PDE6A (Q69*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GPathogenic