ClinVar for Gene (Select 1261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382583	NM_001298.3(CNGA3):c.2013del (p.Gly672fs)	CNGA3 (G654fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 3382582	NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)	CNGA3 (G379V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 3363432	NM_001298.3(CNGA3):c.833T>C (p.Leu278Pro)	CNGA3 (L260P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3361933	NM_001298.3(CNGA3):c.385A>T (p.Arg129Ter)	CNGA3 (R129*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3356098	NM_001298.3(CNGA3):c.1935A>G (p.Ala645=)	CNGA3	Single nucleotide variant (synonymous variant)	CNGA3-related disorder	GLikely benign
Select item 3339828	NM_001298.3(CNGA3):c.1542T>G (p.Asp514Glu)	CNGA3 (D496E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338944	NM_001298.3(CNGA3):c.1256C>T (p.Ser419Phe)	CNGA3 (S401F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268113	NM_001298.3(CNGA3):c.1505T>A (p.Val502Glu)	CNGA3 (V484E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268112	NM_001298.3(CNGA3):c.397G>C (p.Ala133Pro)	CNGA3 (A133P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268111	NM_001298.3(CNGA3):c.1629T>A (p.Asp543Glu)	CNGA3 (D543E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268109	NM_001298.3(CNGA3):c.1856C>G (p.Ala619Gly)	CNGA3 (A619G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268108	NM_001298.3(CNGA3):c.1531A>C (p.Lys511Gln)	CNGA3 (K493Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258069	NM_001298.3(CNGA3):c.1231del (p.Ala411fs)	CNGA3 (A411fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 3251572	NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)	CNGA3 (R265L +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 3146446	NM_001298.3(CNGA3):c.211G>C (p.Ala71Pro)	CNGA3 (A71P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146445	NM_001298.3(CNGA3):c.1147G>A (p.Val383Ile)	CNGA3 (V365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3058492	NM_001298.3(CNGA3):c.2076A>G (p.Lys692=)	CNGA3	Single nucleotide variant (synonymous variant)	CNGA3-related disorder	GLikely benign
Select item 3007492	NM_001298.3(CNGA3):c.405C>G (p.Pro135=)	CNGA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996744	NM_001298.3(CNGA3):c.109_125del (p.Ser37fs)	CNGA3 (S37fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990928	NM_001298.3(CNGA3):c.471T>C (p.Asp157=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881694	NM_001298.3(CNGA3):c.1800G>A (p.Glu600=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873344	NM_001298.3(CNGA3):c.449+16C>G	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871234	NM_001298.3(CNGA3):c.215+7G>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832249	NM_001298.3(CNGA3):c.101+14_101+23dup	CNGA3	Duplication (intron variant)	not provided	GLikely benign
Select item 2827390	NM_001298.3(CNGA3):c.1296_1301del (p.Asp432_Leu433del)	CNGA3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2813849	NM_001298.3(CNGA3):c.1405G>C (p.Ala469Pro)	CNGA3 (A451P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2813198	NM_001298.3(CNGA3):c.448_449+2del	CNGA3	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2812970	NM_001298.3(CNGA3):c.483G>A (p.Val161=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810597	NM_001298.3(CNGA3):c.1080C>T (p.Thr360=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803458	NM_001298.3(CNGA3):c.2006T>C (p.Val669Ala)	CNGA3 (V651A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793105	NM_001298.3(CNGA3):c.1071C>G (p.Tyr357Ter)	CNGA3 (Y339* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2784675	NM_001298.3(CNGA3):c.1929G>A (p.Arg643=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771641	NM_001298.3(CNGA3):c.1073G>A (p.Trp358Ter)	CNGA3 (W358* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758626	NM_001298.3(CNGA3):c.1561A>G (p.Ile521Val)	CNGA3 (I521V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753281	NM_001298.3(CNGA3):c.1989C>T (p.Ser663=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750134	NM_001298.3(CNGA3):c.835C>T (p.Leu279=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746851	NM_001298.3(CNGA3):c.719G>A (p.Trp240Ter)	CNGA3 (W222* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2734254	NM_001298.3(CNGA3):c.1640T>G (p.Phe547Cys)	CNGA3 (F529C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2734251	NM_001298.3(CNGA3):c.1070A>G (p.Tyr357Cys)	CNGA3 (Y339C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2734250	NM_001298.3(CNGA3):c.952G>A (p.Ala318Thr)	CNGA3 (A300T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2734248	NM_001298.3(CNGA3):c.586C>T (p.Gln196Ter)	CNGA3 (Q196* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734247	NM_001298.3(CNGA3):c.396-11C>G	CNGA3	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2720020	NM_001298.3(CNGA3):c.450G>A (p.Glu150=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2720018	NM_001298.3(CNGA3):c.396-4G>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2715135	NM_001298.3(CNGA3):c.396-13T>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714015	NM_001298.3(CNGA3):c.449+11A>T	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713330	NM_001298.3(CNGA3):c.2017G>A (p.Gly673Arg)	CNGA3 (G673R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2708001	NM_001298.3(CNGA3):c.659T>C (p.Val220Ala)	CNGA3 (V202A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706689	NM_001298.3(CNGA3):c.487C>A (p.Pro163Thr)	CNGA3 (P163T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2704046	NM_001298.3(CNGA3):c.1531AAG[1] (p.Lys512del)	CNGA3 (K494del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2703728	NM_001298.3(CNGA3):c.645C>G (p.Val215=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685860	GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3	ACTR1B, ANKRD36B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2651180	NM_001298.3(CNGA3):c.627G>A (p.Ser209=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628058	NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter)	CNGA3 (E176* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 2628057	NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)	CNGA3 (L372fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 2628056	NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)	CNGA3 (Q466P +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2601586	NM_001298.3(CNGA3):c.1204A>C (p.Met402Leu)	CNGA3 (M402L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582675	NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)	CNGA3 (G349V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 2581658	NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)	CNGA3 (R418Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578865	NM_001298.3(CNGA3):c.215G>A (p.Arg72Lys)	CNGA3 (R72K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2577508	NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg)	CNGA3 (G286R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GLikely pathogenic
Select item 2577507	NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)	CNGA3 (S111Y)	Single nucleotide variant (missense variant)	Achromatopsia	GUncertain significance
Select item 2577506	NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser)	CNGA3 (W340S +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GLikely pathogenic
Select item 2574561	NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)	CNGA3 (Y555* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia	GLikely pathogenic
Select item 2574313	NM_001298.3(CNGA3):c.1106C>A (p.Thr369Asn)	CNGA3 (T351N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526346	NM_001298.3(CNGA3):c.1916C>A (p.Thr639Asn)	CNGA3 (T639N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481171	NM_001298.3(CNGA3):c.1222G>A (p.Ala408Thr)	CNGA3 (A390T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474706	NM_001298.3(CNGA3):c.1753A>C (p.Met585Leu)	CNGA3 (M585L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440156	NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)	CNGA3 (G61R)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2440155	NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)	CNGA3	Indel (missense variant)	Achromatopsia 2	GUncertain significance
Select item 2332533	NM_001298.3(CNGA3):c.332C>G (p.Ser111Cys)	CNGA3 (S111C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331651	NM_001298.3(CNGA3):c.488C>A (p.Pro163Gln)	CNGA3 (P145Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2285107	NM_001298.3(CNGA3):c.344G>C (p.Ser115Thr)	CNGA3 (S115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243489	NM_001298.3(CNGA3):c.1510A>G (p.Ser504Gly)	CNGA3 (S486G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203123	NM_001298.3(CNGA3):c.1580T>G (p.Leu527Arg)	CNGA3 (L527R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2203121	NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)	CNGA3 (I464fs +1 more)	Duplication (frameshift variant)	Achromatopsia 2 +1 more	GPathogenic
Select item 2203119	NM_001298.3(CNGA3):c.1006G>T (p.Val336Phe)	CNGA3 (V318F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2203118	NM_001298.3(CNGA3):c.746T>C (p.Phe249Ser)	CNGA3 (F231S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203116	NM_001298.3(CNGA3):c.147dup (p.Ile50fs)	CNGA3 (I50fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2192939	NM_001298.3(CNGA3):c.2019G>T (p.Gly673=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165007	NM_001298.3(CNGA3):c.1616T>C (p.Val539Ala)	CNGA3 (V521A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159683	NM_001298.3(CNGA3):c.1039C>T (p.Arg347Cys)	CNGA3 (R329C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2157247	NM_001298.3(CNGA3):c.1332G>A (p.Leu444=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146879	NM_001298.3(CNGA3):c.1496G>A (p.Arg499Gln)	CNGA3 (R481Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134541	NM_001298.3(CNGA3):c.1236G>T (p.Glu412Asp)	CNGA3 (E394D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129439	NM_001298.3(CNGA3):c.173C>T (p.Ala58Val)	CNGA3 (A58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126536	NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu)	CNGA3 (R392L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125217	NM_001298.3(CNGA3):c.1091C>A (p.Thr364Asn)	CNGA3 (T364N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124911	NM_001298.3(CNGA3):c.705_706dup (p.Thr236fs)	CNGA3 (T218fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2116093	NM_001298.3(CNGA3):c.87A>C (p.Glu29Asp)	CNGA3 (E29D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114538	NM_001298.3(CNGA3):c.587A>T (p.Gln196Leu)	CNGA3 (Q196L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2106289	NM_001298.3(CNGA3):c.572G>C (p.Cys191Ser)	CNGA3 (C173S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2104125	NM_001298.3(CNGA3):c.50A>G (p.Lys17Arg)	CNGA3 (K17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096894	NM_001298.3(CNGA3):c.281G>C (p.Gly94Ala)	CNGA3 (G94A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096554	NM_001298.3(CNGA3):c.453G>A (p.Lys151=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095555	NM_001298.3(CNGA3):c.1679C>A (p.Ser560Ter)	CNGA3 (S542* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2092413	NM_001298.3(CNGA3):c.2054A>G (p.Asp685Gly)	CNGA3 (D667G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091774	NM_001298.3(CNGA3):c.674-7T>G	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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