ClinVar for MedGen (Select 387867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2203121	NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)	CNGA3 (I464fs +1 more)	Duplication (frameshift variant)	Achromatopsia 2 +1 more	GPathogenic
Select item 1929274	NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)	CNGA3 (Q91*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1686891	NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs)	CNGA3 (E394fs +1 more)	Microsatellite (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 1685265	NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser)	CNGA3 (N164S +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1458185	NM_001298.3(CNGA3):c.485A>T (p.Asp162Val)	CNGA3 (D144V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453949	NM_001298.3(CNGA3):c.450-1G>A	CNGA3	Single nucleotide variant (splice acceptor variant)	Achromatopsia 2 +2 more	GPathogenic
Select item 1373536	NM_001298.3(CNGA3):c.674-1G>A	CNGA3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299243	NM_001298.3(CNGA3):c.77del (p.Asn26fs)	CNGA3 (N26fs)	Deletion (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 1065327	NC_000002.12:g.98393909_98399093del	CNGA3	Deletion (genic downstream transcript variant)	Achromatopsia 2	GPathogenic
Select item 1064504	NM_001298.3(CNGA3):c.1347G>A (p.Lys449=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064503	NM_001298.3(CNGA3):c.215+151T>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064502	NM_001298.3(CNGA3):c.66C>T (p.Asp22=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 1064501	NM_001298.3(CNGA3):c.1615G>A (p.Val539Met)	CNGA3 (V521M +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GUncertain significance
Select item 1064500	NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys)	CNGA3 (Y336C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064499	NM_001298.3(CNGA3):c.1004G>A (p.Trp335Ter)	CNGA3 (W317* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 1064498	NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu)	CNGA3 (G313E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1064497	NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs)	CNGA3 (C301fs +1 more)	Indel (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064496	NM_001298.3(CNGA3):c.851del (p.Leu284fs)	CNGA3 (L266fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064495	NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr)	CNGA3 (P253T +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064494	NM_001298.3(CNGA3):c.778G>C (p.Asp260His)	CNGA3 (D242H +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064493	NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala)	CNGA3 (P240A +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 1064492	NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg)	CNGA3 (Q230R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 1064491	NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter)	CNGA3 (Q230* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 1064489	NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala)	CNGA3 (T206A +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 1064488	NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys)	CNGA3 (W185C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064487	NM_001298.3(CNGA3):c.591del (p.Glu198fs)	CNGA3 (E180fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064486	NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys)	CNGA3 (R171K +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 1064485	NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp)	CNGA3 (N164D +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064484	NM_001298.3(CNGA3):c.479T>G (p.Val160Gly)	CNGA3 (V142G +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064483	NM_001298.3(CNGA3):c.464del (p.Lys155fs)	CNGA3 (K137fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 1064482	NM_001298.3(CNGA3):c.450-15T>G	CNGA3	Single nucleotide variant (intron variant)	Achromatopsia 2	GUncertain significance
Select item 1064481	NM_001298.3(CNGA3):c.396-2_398dup	CNGA3	Duplication (splice acceptor variant +1 more)	Achromatopsia 2	GLikely pathogenic
Select item 1064480	NM_001298.3(CNGA3):c.387del (p.Arg131fs)	CNGA3 (R131fs)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064479	NM_001298.3(CNGA3):c.384_387del (p.Asp128fs)	CNGA3 (D128fs)	Microsatellite (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064478	NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala)	CNGA3 (V612A +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 1064477	NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His)	CNGA3 (Y573H +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064476	NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg)	CNGA3 (L561R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064475	NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)	CNGA3 (Y555H +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1064474	NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly)	CNGA3 (S552G +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064473	NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs)	CNGA3 (N544fs +1 more)	Insertion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064472	NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln)	CNGA3 (L535Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064471	NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter)	CNGA3 (E531* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 1064470	NM_001298.3(CNGA3):c.1519del (p.Asp507fs)	CNGA3 (D489fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2 +1 more	GPathogenic
Select item 1064469	NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val)	CNGA3 (G471V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064468	NM_001298.3(CNGA3):c.1379del (p.Leu460fs)	CNGA3 (L442fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064467	NM_001298.3(CNGA3):c.1366del (p.Val456fs)	CNGA3 (V438fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064466	NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter)	CNGA3 (Q407* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 1064465	NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser)	CNGA3 (Y405S +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064464	NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu)	CNGA3 (P354L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1064463	NM_001298.3(CNGA3):c.1076C>T (p.Ser359Phe)	CNGA3 (S341F +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 1064462	NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly)	CNGA3 (S337G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1056891	NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg)	CNGA3 (G495R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1034766	NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu)	CNGA3 (P592L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 989367	NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu)	CNGA3 (R409L +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 988795	NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer)	CNGA3	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988794	NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala)	CNGA3 (V411A +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 988793	NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)	CNGA3 (F283* +1 more)	Indel (nonsense)	Achromatopsia 2	GPathogenic/Likely pathogenic
Select item 988792	NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met)	CNGA3 (L509M +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 987366	NM_001298.3(CNGA3):c.778dup (p.Asp260fs)	CNGA3 (D242fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 898450	NM_001298.3(CNGA3):c.*470C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898449	NM_001298.3(CNGA3):c.*316A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898448	NM_001298.3(CNGA3):c.*269A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898386	NM_001298.3(CNGA3):c.715C>T (p.Leu239=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 898385	NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro)	CNGA3 (L177P +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 898384	NM_001298.3(CNGA3):c.566+14G>A	CNGA3	Single nucleotide variant (intron variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 898383	NM_001298.3(CNGA3):c.478G>A (p.Val160Met)	CNGA3 (V142M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898382	NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu)	CNGA3 (D139E +1 more)	Single nucleotide variant (missense variant)	not provided +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 897276	NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu)	CNGA3 (V651L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897210	NM_001298.3(CNGA3):c.449+13A>G	CNGA3	Single nucleotide variant (intron variant)	Achromatopsia 2	GUncertain significance
Select item 897209	NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg)	CNGA3 (T147R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 897208	NM_001298.3(CNGA3):c.395+9C>T	CNGA3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897207	NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys)	CNGA3 (E125K)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 896865	NM_001298.3(CNGA3):c.*1330A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 896798	NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg)	CNGA3 (K577R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 896797	NM_001298.3(CNGA3):c.1767C>T (p.Thr589=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
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 896736	NM_001298.3(CNGA3):c.144G>A (p.Pro48=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895464	NM_001298.3(CNGA3):c.*1085G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895463	NM_001298.3(CNGA3):c.*894C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895462	NM_001298.3(CNGA3):c.*765G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895461	NM_001298.3(CNGA3):c.*751T>C	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895398	NM_001298.3(CNGA3):c.1486C>T (p.Leu496=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895397	NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu)	CNGA3 (D418E +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 895396	NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 895317	NM_001298.3(CNGA3):c.80G>A (p.Arg27His)	CNGA3 (R27H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 895315	NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile)	CNGA3 (T20I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 895314	NM_001298.3(CNGA3):c.-65G>C	CNGA3	Single nucleotide variant (5 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 867082	NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)	CNGA3 (T565M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic

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