"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437998	NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	RHO (Q28R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13037	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO (P53R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 437997	NM_000539.3(RHO):c.509C>G (p.Pro170Arg)	RHO (P170R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 13040	NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	RHO (D190Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +7 more	GPathogenic/Likely pathogenic

ClinVar