Full data view for gene CNGA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001298.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

Reference     

Remarks     

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+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T g.98396017C>T CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W) - CNGA3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T g.98396017C>T CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W) - CNGA3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - pathogenic (recessive) g.99012480C>T - 847C>T(R283W) - CNGA3_000034 - PubMed: Eksandh 2002 - - Germline ? - - - - DNA SEQ - - retinal disease FamAPatII1 PubMed: Eksandh 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Sweden - - - - - 1 Julia Lopez
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - pathogenic (recessive) g.99012480C>T - R283W - CNGA3_000034 - PubMed: Eksandh 2002 - - Germline ? - - - - DNA SEQ - - retinal disease FamCPatII1 PubMed: Eksandh 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Julia Lopez
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat4 PubMed: Matet 2018 - M yes - white - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8188 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Riera 2017 - - Germline - - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/07 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
?/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - VUS g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case72007 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT656 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1071 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+/. 8 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) ACMG pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - Tracewska 2021, MolVis in press - - Germline yes 0,00025 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 254 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.847C>T r.(?) p.(Arg283Trp) - Maternal (confirmed) ACMG pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 - Tracewska 2021, MolVis in press - - Germline yes 0,00025 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 487 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown ACMG VUS g.99012480C>T - - - CNGA3_000034 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0120 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 8 c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T - c.847C>T - CNGA3_000034 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T Allele 1 c.847C>T (p.Arg283Trp), Allele 2 c.847C>T (p.Arg283Trp) - CNGA3_000034 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - likely pathogenic g.99012480C>T g.98396017C>T Allele 1 c.847C>T (pArg283Trp), Allele 2 c.1190G>T (p.Gly397Val) - CNGA3_000034 heterozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T g.98396017C>T c.847C>T, p.Arg283Trp - CNGA3_000034 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2924_004509 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T; c.1981C>A - CNGA3_000034 no protein change given, compound heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 24 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T; c.1981C>A - CNGA3_000034 no protein change given, compound heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 25 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3, variant 1: c.847C>T/p.R283W, variant 2: c.1669G>A/p.G557R - CNGA3_000034 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1146 PubMed: Weisschuh 2020 Filing key number: 807, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamDPatII1 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamEPatII2 PubMed: Varsanyi 2005 - F - Hungary - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Maternal (confirmed) - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamEPatIII1 PubMed: Varsanyi 2005 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier relatives F - Hungary - - - - - 3 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Maternal (confirmed) - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamEPatIII2 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.[829C>T];[847C>T] - CNGA3_000034 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 13066 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - VUS g.99012480C>T - c.847C>T - CNGA3_000034 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - VUS g.99012480C>T - c.847C>T - CNGA3_000034 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - VUS g.99012480C>T - c.847C>T - CNGA3_000034 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - VUS g.99012480C>T - c.847C>T - CNGA3_000034 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO18/G PubMed: Wissinger 2001 - M - Norway - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO18/B PubMed: Wissinger 2001 - F - Norway - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO18/K PubMed: Wissinger 2001 - M - Norway - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 ACMG PM2_sup, PM5, PS4, PM3 PubMed: Wissinger 2001, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO127/L;Fam214Pat41 PubMed: Wissinger 2001,PubMed: Andersen 2023 family, 2 affected F - Denmark - - - - - 2 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/P372S - CNGA3_000034 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO124/C PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/P372S - CNGA3_000034 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO124/T PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/F380S - CNGA3_000034 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO48/EL PubMed: Wissinger 2001 - F - Sweden - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO214/P PubMed: Wissinger 2001 - F - Italy - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO252/C PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T allele 1/2: R283W/R563H - CNGA3_000034 ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate PubMed: Wissinger 2001, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO74/B;Fam203Pat46 PubMed: Wissinger 2001, PubMed: Andersen 2023 family, 4 affected M - Denmark - - - - - 4 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/T565M - CNGA3_000034 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO243/9-1 PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO50/A PubMed: Wissinger 2001 - M - Sweden - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO209/B PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R283W/R283W - CNGA3_000034 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO115/H PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: R277C/R283W - CNGA3_000034 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease ZD95/Kf PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 allele 1/allele 2: R283W/R427C - CNGA3_000034 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO306-1 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 allele 1/allele 2: R283W/R427C - CNGA3_000034 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO306-2 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: F547L/R283W - CNGA3_000034 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO115 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: F547L/R283W - CNGA3_000034 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO300 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T allele 1/2: F547L/R283W - CNGA3_000034 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO540 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 heterozygous PubMed: Ahuja 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood index case: mutation identified with DHPLC retinal disease IV:1 PubMed: Ahuja 2008 Family A, individual IV:1 F no - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 heterozygous PubMed: Ahuja 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood index case: mutation identified with DHPLC retinal disease IV:2 PubMed: Ahuja 2008 Family A, individual IV:2 M no - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 homozygous PubMed: Ahuja 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood index case: mutation identified with DHPLC retinal disease III:1 PubMed: Ahuja 2008 Family B, individual III:1 M no - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 homozygous PubMed: Ahuja 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood index case: mutation identified with DHPLC retinal disease III:3 PubMed: Ahuja 2008 Family B, individual III:3 M no - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T c.847C>T I c.1306C>T - CNGA3_000034 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL01122-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 - likely pathogenic g.99012480C>T g.98396017C>T c.847C>T I c.1306C>T - CNGA3_000034 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL01122-4 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, p.R283W* - CNGA3_000034 heterozygous PubMed: Liang 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease F1-II1 PubMed: Liang 2015 - F - China - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, (p.Arg283Trp) - CNGA3_000034 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 4 PubMed: Matet 2018 - M yes France white - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 nt887 C>T (exon 7), Arg283Trp - CNGA3_000034 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR18_II:1 PubMed: Kohl 1998 - M - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 nt887 C>T (exon 7), Arg283Trp - CNGA3_000034 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR18_II:2 PubMed: Kohl 1998 - F - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 nt887 C>T (exon 7), Arg283Trp - CNGA3_000034 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR18_II:3 PubMed: Kohl 1998 - M - Germany - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 R283W - CNGA3_000034 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Unknown ? - - - - DNA ? - - retinal disease 918 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, p.(Arg283Trp) - CNGA3_000034 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease PKED06_II:3 PubMed: Yousaf 2022 family PKED06, individual II:3 M yes Pakistan Pakistani - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, p.(Arg283Trp) - CNGA3_000034 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease PKED06_III:7 PubMed: Yousaf 2022 family PKED06, individual III:7 M yes Pakistan Pakistani - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, p.(Arg283Trp) - CNGA3_000034 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease PKED06_III:7 PubMed: Yousaf 2022 family PKED06, individual III:8 M yes Pakistan Pakistani - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) - likely pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T, p.(Arg283Trp) - CNGA3_000034 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease PKED06_III:9 PubMed: Yousaf 2022 family PKED06, individual III:9 - in table, called IV:9 in text F yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 5 ; number of affected individuals: 6; segregation analysis: both parents: 4, one parent or other relatives: 0; no segregation analysis possible: 2 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 12 ; number of affected individuals: 22; segregation analysis: both parents: 10, one parent or other relatives: 11; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 12 ; number of affected individuals: 22; segregation analysis: both parents: 10, one parent or other relatives: 11; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 6 ; number of affected individuals: 6; segregation analysis: both parents: 1, one parent or other relatives: 1; no segregation analysis possible: 4 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 3, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic g.99012480C>T g.98396017C>T CNGA3 c.847C>T - CNGA3_000034 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown - pathogenic g.99012480C>T - CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W) - CNGA3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 9474 - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1301 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283Trp) - Unknown ACMG pathogenic g.99012480C>T g.98396017C>T - - CNGA3_000034 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074198 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Arg283Trp) - Both (homozygous) ACMG likely pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PM2_sup, PM5, PS4, PM3 PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam214Pat63 PubMed: Andersen 2023 sib - yes Denmark - - - - - 1 Susanne Kohl
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PS4_strong, PM3_strong, PM2_sup, PP3_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam203Pat62 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #1 ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Pat61 PubMed: Andersen 2023 patient - no Denmark - - - - - 1 Susanne Kohl
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam555Pat77 PubMed: Andersen 2023 family, 2 affected - no Denmark - - - - - 2 Susanne Kohl
+/. - c.847C>T r.(?) p.(Arg283Trp) - Parent #2 ACMG pathogenic (recessive) g.99012480C>T g.98396017C>T - - CNGA3_000034 ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam555Pat78 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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