ClinVar for MedGen (Select 462418) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031726	NM_001012720.2(RGR):c.34G>A (p.Gly12Arg)	RGR (G12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930891	NM_001012720.2(RGR):c.679del (p.Tyr227fs)	RGR (Y231fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 44	GUncertain significance
Select item 860352	NM_001012720.2(RGR):c.824dup (p.Ile276fs)	RGR (I238fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 841667	NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)	RGR (R79H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301317	NM_001012720.2(RGR):c.229C>T (p.Leu77Phe)	RGR (L77F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285754	NM_001012720.2(RGR):c.27T>C (p.Thr9=)	RGR	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 197174	NM_001012720.2(RGR):c.459C>T (p.Tyr153=)	RGR	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 167592	NM_001012720.2(RGR):c.744+5A>G	RGR	Single nucleotide variant (intron variant)	RGR-related condition +4 more	GConflicting classifications of pathogenicity
Select item 9181	NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	RGR (S66R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity