"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625297	NM_000539.3(RHO):c.53G>A (p.Gly18Asp)	RHO (G18D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GConflicting classifications of pathogenicity
Select item 13037	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO (P53R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13021	NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	RHO (G89D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 812395	NM_000539.3(RHO):c.497C>T (p.Ala166Val)	RHO (A166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 13050	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO (P171S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812396	NM_000539.3(RHO):c.548_638dup (p.Ile214fs)	RHO (I214fs)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812397	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	RHO (C187Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13034	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	RHO (P267L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 13032	NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	RHO (P347R)	Single nucleotide variant (missense variant)	not provided	GPathogenic