ClinVar for Gene (Select 5995) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377651	NM_001012720.2(RGR):c.600G>T (p.Glu200Asp)	RGR (E200D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 44	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 3314068	NM_001012720.2(RGR):c.133C>T (p.Pro45Ser)	RGR (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3030526	NM_001012720.2(RGR):c.631-4C>G	RGR	Single nucleotide variant (intron variant)	RGR-related disorder	GLikely benign
Select item 3028197	NM_001012720.2(RGR):c.777G>T (p.Thr259=)	RGR	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028196	NM_001012720.2(RGR):c.766A>G (p.Met256Val)	RGR (M218V +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028195	NM_001012720.2(RGR):c.685A>G (p.Ile229Val)	RGR (I229V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028194	NM_001012720.2(RGR):c.621C>G (p.Gly207=)	RGR	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028193	NM_001012720.2(RGR):c.488C>T (p.Thr163Ile)	RGR (T163I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028192	NM_001012720.2(RGR):c.392T>C (p.Leu131Pro)	RGR (L131P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028190	NM_001012720.2(RGR):c.108G>A (p.Leu36=)	RGR	Single nucleotide variant (synonymous variant)	Retinal dystrophy	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 3004523	NM_001012720.2(RGR):c.637del (p.Thr213fs)	RGR (T213fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3002441	NM_001012720.2(RGR):c.210C>T (p.Leu70=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2989785	NM_001012720.2(RGR):c.160C>T (p.Leu54=)	RGR	Single nucleotide variant (synonymous 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 2981900	NM_001012720.2(RGR):c.631-12A>G	RGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975455	NM_001012720.2(RGR):c.174G>A (p.Leu58=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973512	NM_001012720.2(RGR):c.567C>T (p.Leu189=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969802	NM_001012720.2(RGR):c.630+17G>A	RGR	Single nucleotide variant (intron 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 2966582	NM_001012720.2(RGR):c.425G>A (p.Trp142Ter)	RGR (W146* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2920642	NM_001012720.2(RGR):c.481T>G (p.Cys161Gly)	RGR (C165G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 44	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 2914771	NM_001012720.2(RGR):c.756C>T (p.Leu252=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878998	NM_001012720.2(RGR):c.745-4A>G	RGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878596	NM_001012720.2(RGR):c.744+14T>G	RGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2875684	NM_001012720.2(RGR):c.774C>T (p.Pro258=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2851251	NM_001012720.2(RGR):c.678C>G (p.Pro226=)	RGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848640	NM_001012720.2(RGR):c.236+19G>C	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 2825961	NM_001012720.2(RGR):c.451G>T (p.Gly151Cys)	RGR (G151C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823371	NM_001012720.2(RGR):c.499T>C (p.Ser167Pro)	RGR (S171P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820769	NM_001012720.2(RGR):c.359-19C>T	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 2819455	NM_001012720.2(RGR):c.343C>A (p.His115Asn)	RGR (H115N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801250	NM_001012720.2(RGR):c.201G>C (p.Leu67=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788634	NM_001012720.2(RGR):c.381A>G (p.Ser127=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787360	NM_001012720.2(RGR):c.513-14C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786578	NM_001012720.2(RGR):c.459C>G (p.Tyr153Ter)	RGR (Y153* +1 more)	Single nucleotide variant (nonsense)	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 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 2723456	NM_001012720.2(RGR):c.809A>G (p.Glu270Gly)	RGR (E270G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709465	NM_001012720.2(RGR):c.631-3C>A	RGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2709061	NM_001012720.2(RGR):c.752C>T (p.Ala251Val)	RGR (A255V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699130	NM_001012720.2(RGR):c.277T>C (p.Phe93Leu)	RGR (F97L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697489	NM_001012720.2(RGR):c.840C>T (p.Leu280=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695609	NM_001012720.2(RGR):c.630+11C>G	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2427119	NC_000010.10:g.(?_85954517)_(86018395_?)dup	CDHR1, LRIT1 +2 more	Duplication	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 2190181	NM_001012720.2(RGR):c.777G>A (p.Thr259=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126375	NM_001012720.2(RGR):c.631-2A>G	RGR	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2106082	NM_001012720.2(RGR):c.630+20G>C	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103071	NM_001012720.2(RGR):c.799del (p.Leu267fs)	RGR (L229fs +2 more)	Deletion (frameshift 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 2089950	NM_001012720.2(RGR):c.563C>T (p.Pro188Leu)	RGR (P192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033173	NM_001012720.2(RGR):c.513-1G>A	RGR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2028561	NM_001012720.2(RGR):c.816del (p.Cys273fs)	RGR (C235fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2024349	NM_001012720.2(RGR):c.513-10C>T	RGR	Single nucleotide variant (intron 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 2005308	NM_001012720.2(RGR):c.680A>G (p.Tyr227Cys)	RGR (Y227C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004869	NM_001012720.2(RGR):c.463T>A (p.Tyr155Asn)	RGR (Y155N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004393	NM_001012720.2(RGR):c.744+17T>G	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996741	NM_001012720.2(RGR):c.793T>C (p.Tyr265His)	RGR (Y227H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969580	NM_001012720.2(RGR):c.358C>T (p.Arg120Cys)	RGR (R124C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967872	NM_001012720.2(RGR):c.79+11C>G	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967444	NM_001012720.2(RGR):c.358+17C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966941	NM_001012720.2(RGR):c.359-14T>A	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960080	NM_001012720.2(RGR):c.790A>C (p.Asn264His)	RGR (N226H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959608	NM_001012720.2(RGR):c.468G>A (p.Glu156=)	RGR	Single nucleotide variant (synonymous 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 1955870	NM_001012720.2(RGR):c.79+7C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1955483	NM_001012720.2(RGR):c.731C>T (p.Pro244Leu)	RGR (P244L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954841	NM_001012720.2(RGR):c.365A>T (p.Gln122Leu)	RGR (Q122L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952799	NM_001012720.2(RGR):c.168G>T (p.Leu56=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951126	NM_001012720.2(RGR):c.576G>C (p.Thr192=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945660	NM_001012720.2(RGR):c.96C>T (p.Ser32=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943480	NM_001012720.2(RGR):c.836G>T (p.Cys279Phe)	RGR (C241F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941092	NM_001012720.2(RGR):c.72G>A (p.Leu24=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935064	NM_001012720.2(RGR):c.480A>G (p.Thr160=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934807	NM_001012720.2(RGR):c.358+17C>G	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932737	NM_001012720.2(RGR):c.732C>A (p.Pro244=)	RGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926900	NM_001012720.2(RGR):c.703G>A (p.Val235Ile)	RGR (V235I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926865	NM_001012720.2(RGR):c.384C>T (p.Ala128=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922229	NM_001012720.2(RGR):c.237-20G>C	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922225	NM_001012720.2(RGR):c.69A>G (p.Leu23=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919966	NM_001012720.2(RGR):c.846G>A (p.Pro282=)	RGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919936	NM_001012720.2(RGR):c.745-9C>T	RGR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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