RGR[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 327

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
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 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 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 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 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 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	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 57890	GRCh38/hg38 10q23.1(chr10:82794503-84537954)x3	CCSER2, CDHR1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 147427	GRCh38/hg38 10q23.1(chr10:83303800-84989052)x3	CCSER2, CDHR1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 153065	GRCh38/hg38 10q23.1(chr10:83412936-84584646)x3	CCSER2, CDHR1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 301316	NM_001012720.2(RGR):c.-17A>G	RGR	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 3028189	NM_001012720.2(RGR):c.5C>T (p.Ala2Val)	RGR (A2V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3005561	NM_001012720.2(RGR):c.12C>A (p.Thr4=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 285753	NM_001012720.2(RGR):c.19C>T (p.Leu7=)	RGR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1595953	NM_001012720.2(RGR):c.21G>A (p.Leu7=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469685	NM_001012720.2(RGR):c.25A>T (p.Thr9Ser)	RGR (T9S)	Single nucleotide variant (missense variant)	not provided	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 972577	NM_001012720.2(RGR):c.32T>G (p.Phe11Cys)	RGR (F11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541638	NM_001012720.2(RGR):c.33C>T (p.Phe11=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1100190	NM_001012720.2(RGR):c.42C>T (p.Leu14=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501817	NM_001012720.2(RGR):c.44A>C (p.Glu15Ala)	RGR (E15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101894	NM_001012720.2(RGR):c.58_59delinsAT (p.Gly20Met)	RGR (G20M)	Indel (missense variant)	not provided	GUncertain significance
Select item 1502203	NM_001012720.2(RGR):c.59G>T (p.Gly20Val)	RGR (G20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420552	NM_001012720.2(RGR):c.60G>A (p.Gly20=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1515601	NM_001012720.2(RGR):c.63G>A (p.Met21Ile)	RGR (M21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922225	NM_001012720.2(RGR):c.69A>G (p.Leu23=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550805	NM_001012720.2(RGR):c.70C>T (p.Leu24=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941092	NM_001012720.2(RGR):c.72G>A (p.Leu24=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955870	NM_001012720.2(RGR):c.79+7C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987308	NM_001012720.2(RGR):c.79+10G>A	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967872	NM_001012720.2(RGR):c.79+11C>G	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655959	NM_001012720.2(RGR):c.80-20G>A	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549344	NM_001012720.2(RGR):c.80-17C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612686	NM_001012720.2(RGR):c.80-15C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833290	NM_001012720.2(RGR):c.80-2A>C	RGR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1713538	NM_001012720.2(RGR):c.86C>A (p.Ser29Tyr)	RGR (S29Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665471	NM_001012720.2(RGR):c.87C>T (p.Ser29=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052664	NM_001012720.2(RGR):c.88G>A (p.Gly30Ser)	RGR (G30S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1945660	NM_001012720.2(RGR):c.96C>T (p.Ser32=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 764536	NM_001012720.2(RGR):c.106C>T (p.Leu36=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028190	NM_001012720.2(RGR):c.108G>A (p.Leu36=)	RGR	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1491747	NM_001012720.2(RGR):c.110C>T (p.Thr37Ile)	RGR (T37I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1608692	NM_001012720.2(RGR):c.132C>G (p.Thr44=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968211	NM_001012720.2(RGR):c.135G>A (p.Pro45=)	RGR	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1912870	NM_001012720.2(RGR):c.139C>T (p.Leu47=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463129	NM_001012720.2(RGR):c.142C>T (p.Arg48Trp)	RGR (R48W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423229	NM_001012720.2(RGR):c.143G>A (p.Arg48Gln)	RGR (R48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084723	NM_001012720.2(RGR):c.147T>A (p.Thr49=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989785	NM_001012720.2(RGR):c.160C>T (p.Leu54=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952799	NM_001012720.2(RGR):c.168G>T (p.Leu56=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975455	NM_001012720.2(RGR):c.174G>A (p.Leu58=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500179	NM_001012720.2(RGR):c.182C>T (p.Ala61Val)	RGR (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284332	NM_001012720.2(RGR):c.183G>A (p.Ala61=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001983	NM_001012720.2(RGR):c.190G>A (p.Gly64Arg)	RGR (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116300	NM_001012720.2(RGR):c.192G>A (p.Gly64=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 2801250	NM_001012720.2(RGR):c.201G>C (p.Leu67=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1089834	NM_001012720.2(RGR):c.201G>A (p.Leu67=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016838	NM_001012720.2(RGR):c.207C>T (p.Ala69=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002441	NM_001012720.2(RGR):c.210C>T (p.Leu70=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2786291	NM_001012720.2(RGR):c.211G>A (p.Val71Ile)	RGR (V71I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381115	NM_001012720.2(RGR):c.211del (p.Val71fs)	RGR (V71fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2856461	NM_001012720.2(RGR):c.212T>G (p.Val71Gly)	RGR (V71G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000742	NM_001012720.2(RGR):c.218C>G (p.Ala73Gly)	RGR (A73G)	Single nucleotide variant (missense variant)	not provided	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 374663	NM_001012720.2(RGR):c.230T>G (p.Leu77Arg)	RGR (L77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904127	NM_001012720.2(RGR):c.235C>T (p.Arg79Trp)	RGR (R79C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195105	NM_001012720.2(RGR):c.235_236delinsAT (p.Arg79Met)	RGR (R79I +1 more)	Indel (missense 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 2848640	NM_001012720.2(RGR):c.236+19G>C	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820152	NM_001012720.2(RGR):c.237-26_237-16del	RGR	Deletion (intron variant)	not provided	GUncertain significance
Select item 1922229	NM_001012720.2(RGR):c.237-20G>C	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1955861	NM_001012720.2(RGR):c.243G>C (p.Trp81Cys)	RGR (W81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496312	NM_001012720.2(RGR):c.243G>A (p.Trp81Ter)	RGR (W81* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1476387	NM_001012720.2(RGR):c.243G>T (p.Trp81Cys)	RGR (W81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967356	NM_001012720.2(RGR):c.250_257dup (p.Asp86fs)	RGR (D86fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 748453	NM_001012720.2(RGR):c.249C>T (p.Tyr83=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773000	NM_001012720.2(RGR):c.250G>A (p.Gly84Ser)	RGR (G88S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1959165	NM_001012720.2(RGR):c.253T>C (p.Ser85Pro)	RGR (S85P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057391	NM_001012720.2(RGR):c.254C>T (p.Ser85Leu)	RGR (S85L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919187	NM_001012720.2(RGR):c.255G>A (p.Ser85=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1088771	NM_001012720.2(RGR):c.258C>T (p.Asp86=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301318	NM_001012720.2(RGR):c.259G>A (p.Gly87Ser)	RGR (G87S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1674979	NM_001012720.2(RGR):c.264C>T (p.Cys88=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781738	NM_001012720.2(RGR):c.269C>T (p.Ala90Val)	RGR (A90V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451021	NM_001012720.2(RGR):c.272A>G (p.His91Arg)	RGR (H95R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149560	NM_001012720.2(RGR):c.273C>T (p.His91=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955607	NM_001012720.2(RGR):c.274G>A (p.Gly92Ser)	RGR (G92S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938520	NM_001012720.2(RGR):c.274G>T (p.Gly92Cys)	RGR (G92C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4