"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98717	NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	PRPH2 (E302*)	Single nucleotide variant (nonsense)	Adult-onset foveomacular vitelliform dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1338784	NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro)	PRPH2 (L270P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GUncertain significance
Select item 98709	NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	PRPH2 (G266D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +2 more	GPathogenic/Likely pathogenic
Select item 1076073	NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	PRPH2 (S231*)	Single nucleotide variant (nonsense)	Pigmentary retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 13167	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	PRPH2 (R172Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 975918	NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)	PRPH2 (C82fs)	Deletion (frameshift variant)	Adult-onset foveomacular vitelliform dystrophy	GLikely pathogenic
Select item 13179	NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	PRPH2 (R46*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1 +6 more	GPathogenic/Likely pathogenic

ClinVar