CNGA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 337644	NM_001298.2(CNGA3):c.-406C>T	CNGA3	Single nucleotide variant	Achromatopsia 2	GLikely benign
Select item 337645	NM_001298.2(CNGA3):c.-388C>G	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337646	NM_001298.2(CNGA3):c.-383A>G	CNGA3	Single nucleotide variant	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 898302	NM_001298.2(CNGA3):c.-381A>G	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337647	NM_001298.2(CNGA3):c.-326G>A	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337648	NM_001298.2(CNGA3):c.-287C>T	CNGA3	Single nucleotide variant	Achromatopsia	GUncertain significance
Select item 337649	NM_001298.2(CNGA3):c.-286C>T	CNGA3	Single nucleotide variant	Achromatopsia 2	GBenign
Select item 337650	NM_001298.2(CNGA3):c.-271G>A	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 895314	NM_001298.3(CNGA3):c.-65G>C	CNGA3	Single nucleotide variant (5 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337651	NM_001298.3(CNGA3):c.-43G>A	CNGA3	Single nucleotide variant (5 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 503559	NM_001298.3(CNGA3):c.-37-1G>C	CNGA3	Single nucleotide variant (splice acceptor variant)	Achromatopsia +1 more	GConflicting classifications of pathogenicity
Select item 1064461	NM_001298.3(CNGA3):c.1A>T (p.Met1Leu)	CNGA3 (M1L)	Single nucleotide variant (missense variant +1 more)	Achromatopsia 2	GUncertain significance
Select item 2076794	NM_001298.3(CNGA3):c.4G>C (p.Ala2Pro)	CNGA3 (A2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453688	NM_001298.3(CNGA3):c.9del (p.Ile4fs)	CNGA3 (I4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1459823	NM_001298.3(CNGA3):c.24C>G (p.Tyr8Ter)	CNGA3 (Y8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2028377	NM_001298.3(CNGA3):c.27C>A (p.Ser9=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569264	NM_001298.3(CNGA3):c.48C>G (p.Leu16=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1435557	NM_001298.3(CNGA3):c.57G>T (p.Lys19Asn)	CNGA3 (K19N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895315	NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile)	CNGA3 (T20I)	Single nucleotide variant (missense variant)	CNGA3-related disorder +2 more	GBenign/Likely benign
Select item 1687513	NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter)	CNGA3 (S21*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1064502	NM_001298.3(CNGA3):c.66C>T (p.Asp22=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 337652	NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)	CNGA3 (R23*)	Single nucleotide variant (nonsense)	Achromatopsia 2 +1 more	GPathogenic
Select item 895316	NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln)	CNGA3 (R23Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 257964	NM_001298.3(CNGA3):c.72T>C (p.Asp24=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1879481	NM_001298.3(CNGA3):c.74T>C (p.Leu25Pro)	CNGA3 (L25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421782	NM_001298.3(CNGA3):c.79_90del (p.Arg27_Asn30del)	CNGA3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1299243	NM_001298.3(CNGA3):c.77del (p.Asn26fs)	CNGA3 (N26fs)	Deletion (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 1416152	NM_001298.3(CNGA3):c.77A>G (p.Asn26Ser)	CNGA3 (N26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499833	NM_001298.3(CNGA3):c.79C>G (p.Arg27Gly)	CNGA3 (R27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966052	NM_001298.3(CNGA3):c.79C>T (p.Arg27Cys)	CNGA3 (R27C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 895317	NM_001298.3(CNGA3):c.80G>A (p.Arg27His)	CNGA3 (R27H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 711330	NM_001298.3(CNGA3):c.81C>T (p.Arg27=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2049083	NM_001298.3(CNGA3):c.82G>A (p.Ala28Thr)	CNGA3 (A28T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493807	NM_001298.3(CNGA3):c.82G>C (p.Ala28Pro)	CNGA3 (A28P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1524112	NM_001298.3(CNGA3):c.90T>A (p.Asn30Lys)	CNGA3 (N30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551974	NM_001298.3(CNGA3):c.93C>A (p.Gly31=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366181	NM_001298.3(CNGA3):c.95del (p.Leu32fs)	CNGA3 (L32fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1494832	NM_001298.3(CNGA3):c.99C>A (p.Ser33Arg)	CNGA3 (S33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434798	NM_001298.3(CNGA3):c.101+2dup	CNGA3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 208567	NM_001298.3(CNGA3):c.101+1G>A	CNGA3	Single nucleotide variant (splice donor variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2832249	NM_001298.3(CNGA3):c.101+14_101+23dup	CNGA3	Duplication (intron variant)	not provided	GLikely benign
Select item 1099577	NM_001298.3(CNGA3):c.101+17T>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165547	NM_001298.3(CNGA3):c.102-20C>T	CNGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1107827	NM_001298.3(CNGA3):c.102-18G>A	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062516	NM_001298.3(CNGA3):c.102-17_102-16inv	CNGA3	Inversion (intron variant)	not provided	GLikely benign
Select item 1651090	NM_001298.3(CNGA3):c.102-16A>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257961	NM_001298.3(CNGA3):c.102-16A>G	CNGA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1950827	NM_001298.3(CNGA3):c.102-4C>T	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491562	NM_001298.3(CNGA3):c.102-3T>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1411477	NM_001298.3(CNGA3):c.102A>G (p.Arg34=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1123729	NM_001298.3(CNGA3):c.105C>G (p.Ala35=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 438155	NM_001298.3(CNGA3):c.107_110del (p.His36fs)	CNGA3 (H36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2996744	NM_001298.3(CNGA3):c.109_125del (p.Ser37fs)	CNGA3 (S37fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 500999	NM_001298.3(CNGA3):c.111_113del (p.Ser39del)	CNGA3 (S39del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 74757	NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu)	CNGA3 (S37L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735049	NM_001298.3(CNGA3):c.111G>A (p.Ser37=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2002462	NM_001298.3(CNGA3):c.122A>G (p.Glu41Gly)	CNGA3 (E41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025331	NM_001298.3(CNGA3):c.124A>G (p.Thr42Ala)	CNGA3 (T42A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599216	NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)	CNGA3 (A51fs)	Duplication (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 425210	NM_001298.3(CNGA3):c.128C>T (p.Ser43Leu)	CNGA3 (S43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1646082	NM_001298.3(CNGA3):c.129G>T (p.Ser43=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738219	NM_001298.3(CNGA3):c.129G>A (p.Ser43=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1036079	NM_001298.3(CNGA3):c.137T>C (p.Leu46Pro)	CNGA3 (L46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053649	NM_001298.3(CNGA3):c.141G>T (p.Gln47His)	CNGA3 (Q47H)	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 288895	NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)	CNGA3 (P48L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 896736	NM_001298.3(CNGA3):c.144G>A (p.Pro48=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1364790	NM_001298.3(CNGA3):c.145G>T (p.Gly49Trp)	CNGA3 (G49W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120367	NM_001298.3(CNGA3):c.146G>A (p.Gly49Glu)	CNGA3 (G49E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1346936	NM_001298.3(CNGA3):c.148A>G (p.Ile50Val)	CNGA3 (I50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096412	NM_001298.3(CNGA3):c.150C>T (p.Ile50=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061336	NM_001298.3(CNGA3):c.150C>G (p.Ile50Met)	CNGA3 (I50M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018302	NM_001298.3(CNGA3):c.151G>A (p.Ala51Thr)	CNGA3 (A51T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 896737	NM_001298.3(CNGA3):c.154A>G (p.Met52Val)	CNGA3 (M52V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468644	NM_001298.3(CNGA3):c.157G>C (p.Glu53Gln)	CNGA3 (E53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030750	NM_001298.3(CNGA3):c.159G>A (p.Glu53=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708674	NM_001298.3(CNGA3):c.162_163insT (p.Arg55Ter)	CNGA3 (R55*)	Insertion (nonsense)	not provided	GPathogenic
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 724173	NM_001298.3(CNGA3):c.180C>T (p.Ser60=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1924380	NM_001298.3(CNGA3):c.181G>C (p.Gly61Arg)	CNGA3 (G61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538824	NM_001298.3(CNGA3):c.183G>A (p.Gly61=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464350	NM_001298.3(CNGA3):c.187G>A (p.Gly63Ser)	CNGA3 (G63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736483	NM_001298.3(CNGA3):c.189C>A (p.Gly63=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257962	NM_001298.3(CNGA3):c.198C>T (p.Thr66=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1058921	NM_001298.3(CNGA3):c.199G>A (p.Gly67Ser)	CNGA3 (G67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436250	NM_001298.3(CNGA3):c.205G>A (p.Gly69Arg)	CNGA3 (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907690	NM_001298.3(CNGA3):c.209T>C (p.Ile70Thr)	CNGA3 (I70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1132759	NM_001298.3(CNGA3):c.210C>T (p.Ile70=)	CNGA3	Single nucleotide variant (synonymous variant)	CNGA3-related disorder +1 more	GLikely benign
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 858875	NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr)	CNGA3 (A71T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1716598	NM_001298.3(CNGA3):c.212C>T (p.Ala71Val)	CNGA3 (A71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578865	NM_001298.3(CNGA3):c.215G>A (p.Arg72Lys)	CNGA3 (R72K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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