C3151001[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13018	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO (T17M)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 3024160	NM_000539.3(RHO):c.67C>A (p.Pro23Thr)	RHO (P23T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 13038	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO (G106R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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