"GeneDx"[submitter] AND "RGR"[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 1310953	NM_001012720.2(RGR):c.101A>G (p.Asn34Ser)	RGR (N34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9181	NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	RGR (S66R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 44 +2 more	GConflicting classifications of pathogenicity
Select item 1312061	NM_001012720.2(RGR):c.379T>A (p.Ser127Thr)	RGR (S127T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197173	NM_001012720.2(RGR):c.385G>A (p.Val129Ile)	RGR (V133I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372738	NM_001012720.2(RGR):c.476G>T (p.Gly159Val)	RGR (G159V +1 more)	Single nucleotide variant (missense variant)	not provided	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 1309882	NM_001012720.2(RGR):c.829T>C (p.Trp277Arg)	RGR (W239R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253994	GRCh37/hg19 10q23.1(chr10:85063556-86748808)x3	CCSER2, LRIT1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253881	GRCh37/hg19 10q23.1(chr10:85140044-86242493)x3	GHITM, C10orf99 +5 more	Copy number gain	See cases	GUncertain significance