"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636062	NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)	PDE6B (E129K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523351	NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)	PDE6B (N182K)	Single nucleotide variant (missense variant)	Macular dystrophy +1 more	GUncertain significance
Select item 930976	NM_000283.4(PDE6B):c.559G>A (p.Val187Met)	PDE6B (V187M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 438188	NM_000283.4(PDE6B):c.1107+3A>G	PDE6B	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 378339	NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)	PDE6B (L527P +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +3 more	GConflicting classifications of pathogenicity
Select item 931852	NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)	PDE6B (H235R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 931878	NM_000283.4(PDE6B):c.2353-7_2353-3del	PDE6B	Deletion (intron variant)	Retinitis pigmentosa 40	GUncertain significance

ClinVar