ClinVar for MedGen (Select 483485) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248514	NC_000019.9:g.(?_48342985)_(48346262_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 3248513	NC_000019.9:g.(?_48337701)_(48337820_?)dup	CRX	Duplication	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3248512	NC_000019.9:g.(?_48337701)_(48343224_?)dup	CRX	Duplication	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3248511	NC_000019.9:g.(?_48342557)_(48343224_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3064069	NM_000554.6(CRX):c.100+5G>A	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2	GUncertain significance
Select item 2951061	NM_000554.6(CRX):c.441C>A (p.Pro147=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2949200	NM_000554.6(CRX):c.52C>T (p.Leu18=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2947663	NM_000554.6(CRX):c.37G>C (p.Val13Leu)	CRX (V13L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2945392	NM_000554.6(CRX):c.551dup (p.Ser185fs)	CRX (S185fs)	Duplication (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2945179	NM_000554.6(CRX):c.151C>T (p.Leu51=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2944941	NM_000554.6(CRX):c.586G>T (p.Ala196Ser)	CRX (A196S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2942796	NM_000554.6(CRX):c.534_538del (p.Leu179fs)	CRX (L179fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2942453	NM_000554.6(CRX):c.569_570del (p.Pro190fs)	CRX (P190fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2942140	NM_000554.6(CRX):c.628T>G (p.Ser210Ala)	CRX (S210A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2942007	NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)	CRX	Deletion (nonsense)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2939319	NM_000554.6(CRX):c.784A>G (p.Ser262Gly)	CRX (S262G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2938054	NM_000554.6(CRX):c.527G>A (p.Arg176Gln)	CRX (R176Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2936265	NM_000554.6(CRX):c.408G>C (p.Leu136=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2934985	NM_000554.6(CRX):c.165G>A (p.Glu55=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2934502	NM_000554.6(CRX):c.270G>C (p.Arg90=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2929911	NM_000554.6(CRX):c.894C>A (p.Ile298=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2929028	NM_000554.6(CRX):c.606C>A (p.Cys202Ter)	CRX (C202*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2928964	NM_000554.6(CRX):c.566C>T (p.Ala189Val)	CRX (A189V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2927759	NM_000554.6(CRX):c.177C>T (p.Ala59=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2927229	NM_000554.6(CRX):c.159del (p.Glu53fs)	CRX (E53fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 2926814	NM_000554.6(CRX):c.319C>G (p.Pro107Ala)	CRX (P107A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2926332	NM_000554.6(CRX):c.143G>A (p.Arg48Gln)	CRX (R48Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2925993	NM_000554.6(CRX):c.673A>G (p.Met225Val)	CRX (M225V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2925643	NM_000554.6(CRX):c.682C>T (p.Gln228Ter)	CRX (Q228*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2923656	NM_000554.6(CRX):c.598G>A (p.Ala200Thr)	CRX (A200T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2922338	NM_000554.6(CRX):c.549dup (p.Pro184fs)	CRX (P184fs)	Duplication (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2922274	NM_000554.6(CRX):c.692_716del (p.Gly231fs)	CRX (G231fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2921568	NM_000554.6(CRX):c.138C>T (p.Phe46=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2920617	NM_000554.6(CRX):c.608_609del (p.Ser203fs)	CRX (S203fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 2	GLikely pathogenic
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579249	GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1	CRX	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579248	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1	CRX, LINC01595 +3 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2538604	NM_000554.6(CRX):c.380C>T (p.Pro127Leu)	CRX (P127L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 2423325	NC_000019.9:g.(?_48339480)_(48343224_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 2423324	NC_000019.9:g.(?_48337701)_(48337820_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2420989	NM_000554.6(CRX):c.133A>G (p.Thr45Ala)	CRX (T45A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2415720	NM_000554.6(CRX):c.406C>T (p.Leu136=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2221508	NM_000554.6(CRX):c.532G>C (p.Gly178Arg)	CRX (G178R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2197799	NM_000554.6(CRX):c.213G>A (p.Glu71=)	CRX	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 2197532	NM_000554.6(CRX):c.211G>A (p.Glu71Lys)	CRX (E71K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2196747	NM_000554.6(CRX):c.709C>A (p.Leu237Ile)	CRX (L237I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2164428	NM_000554.6(CRX):c.658C>A (p.Pro220Thr)	CRX (P220T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2158655	NM_000554.6(CRX):c.695C>T (p.Pro232Leu)	CRX (P232L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2154999	NM_000554.6(CRX):c.534G>C (p.Gly178=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2152597	NM_000554.6(CRX):c.85G>A (p.Ala29Thr)	CRX (A29T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2152320	NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)	CRX (Y221*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 7 +1 more	GLikely pathogenic
Select item 2151785	NM_000554.6(CRX):c.484A>C (p.Ile162Leu)	CRX (I162L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2148956	NM_000554.6(CRX):c.777C>T (p.Gly259=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2143877	NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)	CRX (Y288C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2140928	NM_000554.6(CRX):c.342C>T (p.Ala114=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2140522	NM_000554.6(CRX):c.205C>G (p.Arg69Gly)	CRX (R69G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2138313	NM_000554.6(CRX):c.362C>T (p.Ala121Val)	CRX (A121V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2124452	NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)	CRX (Y258C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2122560	NM_000554.6(CRX):c.89T>A (p.Val30Glu)	CRX (V30E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2121673	NM_000554.6(CRX):c.360G>A (p.Lys120=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2117281	NM_000554.6(CRX):c.844C>T (p.Pro282Ser)	CRX (P282S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2109639	NM_000554.6(CRX):c.488G>A (p.Trp163Ter)	CRX (W163*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2109546	NM_000554.6(CRX):c.786C>T (p.Ser262=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2109035	NM_000554.6(CRX):c.101-10C>T	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2092810	NM_000554.6(CRX):c.719C>T (p.Pro240Leu)	CRX (P240L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2092800	NM_000554.6(CRX):c.100+2T>G	CRX	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 2090923	NM_000554.6(CRX):c.198C>T (p.Val66=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2090236	NM_000554.6(CRX):c.675G>C (p.Met225Ile)	CRX (M225I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2086120	NM_000554.6(CRX):c.390T>C (p.Asp130=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2076648	NM_000554.6(CRX):c.60C>T (p.Gly20=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2071819	NM_000554.6(CRX):c.557del (p.Leu186fs)	CRX (L186fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2070513	NM_000554.6(CRX):c.678G>A (p.Val226=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2056454	NM_000554.6(CRX):c.755C>T (p.Ser252Phe)	CRX (S252F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2042467	NM_000554.6(CRX):c.740C>A (p.Ala247Asp)	CRX (A247D)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2037356	NM_000554.6(CRX):c.119G>C (p.Arg40Pro)	CRX (R40P)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2033764	NM_000554.6(CRX):c.714del (p.Gly239fs)	CRX (G239fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 2033095	NM_000554.6(CRX):c.555T>A (p.Ser185=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2023817	NM_000554.6(CRX):c.253-1G>T	CRX	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2017828	NM_000554.6(CRX):c.591_594dup (p.Ser199fs)	CRX (S199fs)	Duplication (frameshift variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2014678	NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)	CRX	Deletion (inframe_deletion)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 2012359	NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)	CRX (C94Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2008707	NM_000554.6(CRX):c.834C>A (p.Phe278Leu)	CRX (F278L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2007367	NM_000554.6(CRX):c.543C>A (p.Ala181=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2007366	NM_000554.6(CRX):c.541_542del (p.Ala181fs)	CRX (A181fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1986444	NM_000554.6(CRX):c.633G>A (p.Pro211=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1984080	NM_000554.6(CRX):c.575C>A (p.Ala192Asp)	CRX (A192D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1947862	NM_000554.6(CRX):c.109A>C (p.Arg37=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1934900	NM_000554.6(CRX):c.240G>A (p.Glu80=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1934765	NM_000554.6(CRX):c.799T>G (p.Leu267Val)	CRX (L267V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 1930913	NM_000554.6(CRX):c.497C>A (p.Ala166Asp)	CRX (A166D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1720406	NM_000554.6(CRX):c.106C>T (p.Pro36Ser)	CRX (P36S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 1687488	NM_000554.6(CRX):c.533_545dup (p.Gly183fs)	CRX (G183fs)	Duplication (frameshift variant)	Cone-rod dystrophy 2	GLikely pathogenic
Select item 1685675	NM_000554.6(CRX):c.586_587del (p.Ala196fs)	CRX (A196fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2	GPathogenic
Select item 1685674	NM_000554.6(CRX):c.545C>G (p.Ser182Ter)	CRX (S182*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 7 +1 more	GPathogenic/Likely pathogenic
Select item 1674290	NM_000554.6(CRX):c.774T>C (p.Tyr258=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1672112	NM_000554.6(CRX):c.345G>A (p.Arg115=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1654322	NM_000554.6(CRX):c.101-6C>T	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1650960	NM_000554.6(CRX):c.690G>T (p.Gly230=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1643467	NM_000554.6(CRX):c.441C>T (p.Pro147=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1629290	NM_000554.6(CRX):c.747C>G (p.Ser249=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign

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