"Ambry Genetics"[submitter] AND "RGR"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153755	NM_001012720.2(RGR):c.61A>G (p.Met21Val)	RGR (M21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314068	NM_001012720.2(RGR):c.133C>T (p.Pro45Ser)	RGR (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1463129	NM_001012720.2(RGR):c.142C>T (p.Arg48Trp)	RGR (R48W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 301317	NM_001012720.2(RGR):c.229C>T (p.Leu77Phe)	RGR (L77F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 44 +3 more	GUncertain significance
Select item 2527370	NM_001012720.2(RGR):c.238C>T (p.Arg80Cys)	RGR (R80C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 845997	NM_001012720.2(RGR):c.239G>A (p.Arg80His)	RGR (R84H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3153753	NM_001012720.2(RGR):c.257A>G (p.Asp86Gly)	RGR (D86G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153754	NM_001012720.2(RGR):c.325A>G (p.Ile109Val)	RGR (I113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1350788	NM_001012720.2(RGR):c.337C>A (p.Arg113Ser)	RGR (R113S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 423397	NM_001012720.2(RGR):c.532T>C (p.Phe178Leu)	RGR (F178L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2607389	NM_001012720.2(RGR):c.541T>A (p.Ser181Thr)	RGR (S181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1037311	NM_001012720.2(RGR):c.556G>A (p.Ala186Thr)	RGR (A190T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 197703	NM_001012720.2(RGR):c.565C>G (p.Leu189Val)	RGR (L193V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807919	NM_001012720.2(RGR):c.595A>G (p.Met199Val)	RGR (M199V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1378867	NM_001012720.2(RGR):c.650C>G (p.Ala217Gly)	RGR (A221G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 936898	NM_001012720.2(RGR):c.685A>C (p.Ile229Leu)	RGR (I229L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1498261	NM_001012720.2(RGR):c.741G>C (p.Gln247His)	RGR (Q247H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 857671	NM_001012720.2(RGR):c.794A>G (p.Tyr265Cys)	RGR (Y265C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance