ClinVar for MedGen (Select 462418) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10317261.	NM_001012720.2(RGR):c.34G>A (p.Gly12Arg) GRCh37: Chr10:86004880 GRCh38: Chr10:84245124	RGR	G12R	Retinitis pigmentosa 44, not provided	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9308912.	NM_001012720.2(RGR):c.679del (p.Tyr227fs) GRCh37: Chr10:86017697 GRCh38: Chr10:84257941	RGR	Y231fs, Y227fs	Retinitis pigmentosa 44	Uncertain significance (Jan 20, 2020)	criteria provided, single submitter
Select item 8603523.	NM_001012720.2(RGR):c.824dup (p.Ile276fs) GRCh37: Chr10:86018339-86018340 GRCh38: Chr10:84258583-84258584	RGR	I238fs, I280fs, I276fs	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 8416674.	NM_001012720.2(RGR):c.236G>A (p.Arg79Gln) GRCh37: Chr10:86007503 GRCh38: Chr10:84247747	RGR	R79H, R79Q	not provided, Retinitis pigmentosa 44	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 3013175.	NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) GRCh37: Chr10:86007496 GRCh38: Chr10:84247740	RGR	L77F	not provided, Retinitis pigmentosa 44, Retinitis pigmentosa	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2857546.	NM_001012720.2(RGR):c.27T>C (p.Thr9=) GRCh37: Chr10:86004873 GRCh38: Chr10:84245117	RGR		not specified, not provided, Retinitis pigmentosa, Retinitis pigmentosa 44	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1971747.	NM_001012720.2(RGR):c.459C>T (p.Tyr153=) GRCh37: Chr10:86012713 GRCh38: Chr10:84252957	RGR		not specified, not provided, Retinitis pigmentosa, Retinitis pigmentosa 44	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1675928.	NM_001012720.2(RGR):c.744+5A>G GRCh37: Chr10:86017767 GRCh38: Chr10:84258011	RGR		not specified, not provided, Retinitis pigmentosa, Retinitis pigmentosa 44	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 91819.	NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) GRCh37: Chr10:86007463 GRCh38: Chr10:84247707	RGR	S66R	not provided, Retinitis pigmentosa 44, Cone dystrophy	Conflicting interpretations of pathogenicity (Aug 11, 2022)	criteria provided, conflicting interpretations