C3151001[trait identifier] AND "Genomics England Pilot Project, Genomi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO (C110R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO (M216K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic

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