Full data view for gene CNGB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001297.4 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - VUS g.57935275T>A g.57901371T>A - - CNGB1_000004 - - - rs201162411 Germline - - - - - DNA SEQ-NG - - retinal disease - - - - - - - - - - - 1 Sarah Hull
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Simpson 2011, Journal: Simpson 2011 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Simpson 2011, Journal: Simpson 2011 7-generation family, 1 affected, unaffected heterozygous carrier parents/sibs/child M yes Ireland - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - pathogenic g.57935275T>A g.57901371T>A CNGB1(NM_001297.5):c.2957A>T (p.N986I) - CNGB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic g.57935275T>A - - - CNGB1_000004 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A - 16:57935275T>A ENST00000251102.8:c.2957A>T (Asn986Ile) - CNGB1_000004 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240269 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - pathogenic (recessive) g.57935275T>A - 16:57935275T>A ENST00000251102.8:c.2957A>T (Asn986Ile) - CNGB1_000004 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240224 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - VUS g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat35 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Wang 2017 - rs201162411 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD6–06 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 12 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD052 PubMed: Bernardis 2016   - - Italy - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 10003544 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13000500 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1998 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0141 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0391 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG1256 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp167 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - VUS g.57935275T>A - c.2957A>T - CNGB1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 Atypical inheritance for RDH12 in RP - - Saudi Arabia - - - - - 3 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-1914 PubMed: Perez-Carro 2018 family RP-1914 M no Spain - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG likely pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile), c.2957A>T, p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 83 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2570_2571insTp.(Glu857Aspfs*77), c.2957A>T, p.(Asn986Ile) - CNGB1_000004 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 84 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2166+1G>A, p.(?), c.2957A>T, p.(Asn986Ile), USH2A c.1256G>T, p.(Cys419Phe) - CNGB1_000004 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 85 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*) - CNGB1_000004 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 86 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG likely pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile), c.2957A>T, p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 87 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic g.57935275T>A g.57901371T>A RP1 c.4642A>T, p.(Ser1548Cys), CNGB1 c.2957A>T, p.(Asn986Ile) - CNGB1_000004 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 457 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile), MERTK: Ex.19c.2784_2785dup p.(Tyr929Cysfs*4) - CNGB1_000004 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-0311 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-0790 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.20 c.1822G>T p.(Glu608*), Ex.29 c.2957A>T p.(Asn986Ile) - CNGB1_000004 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1300 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.21 c.2029C>T p.(Arg677Cys), Ex.29 c.2957A>T p.(Asn986Ile) - CNGB1_000004 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2099 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2115 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - likely pathogenic g.57935275T>A g.57901371T>A CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2457 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic g.57935275T>A g.57901371T>A CNGB1:NM_001297 c.A2957T, p.N986I - CNGB1_000004 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-256 PubMed: Rodriguez-Munoz 2020 family fRPN-110, family member M - Spain - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A c.2957A>T, p.Asn986Ile - CNGB1_000004 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-132 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A g.57901371T>A c.2957A>T, p.Asn986Ile - CNGB1_000004 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-727 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat5 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Afshar 2020 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat14 PubMed: Afshar 2020 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Afshar 2020 - - Germline - - - - - DNA SEQ - - retinal disease Pat15 PubMed: Afshar 2020 brother M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC20388Pat2 PubMed: Hull 2017 2-generation family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC19136Pat3 PubMed: Hull 2017 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC20934Pat7 PubMed: Hull 2017 2-generation family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC21053Pat8 PubMed: Hull 2017 2-generation family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC635Pat5 PubMed: Hull 2017 2-generation family, 3 affected sbs (2F, M) F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Hull 2017 - - Germline - - - - - DNA SEQ - - retinal disease FamGC635Pat6 PubMed: Hull 2017 brother M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - VUS g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Charbel Issa 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Charbel Issa 2018 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline - - - - - DNA SEQ - - retinal disease FamAPat1 PubMed: Radojevic 2021 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline yes - - - - DNA SEQ - - retinal disease FamBPat1 PubMed: Radojevic 2021 2-generation family, 3 sibs (F, 2M) M - United States - - - - - 3 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline yes - - - - DNA SEQ - - retinal disease FamBPat3 PubMed: Radojevic 2021 brother F - United States - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline yes - - - - DNA SEQ - - retinal disease FamBPat2 PubMed: Radojevic 2021 sister M - United States - - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline - - - - - DNA SEQ - - retinal disease FamFPat1 PubMed: Radojevic 2021 2-generation family, 2 affected sisters F - United States - - - - - 2 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 - PubMed: Radojevic 2021 - - Germline - - - - - DNA SEQ - - retinal disease FamCPat1 PubMed: Radojevic 2021 - M - United States - - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease F4300 PubMed: Nassisi 2021 - - - - Africa-N - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease F3791 CIC06919 PubMed: Nassisi 2021 - - - - Africa-N - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #1 ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease SRP480 PubMed: Nassisi 2021 - - - - - - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease SRP541 PubMed: Nassisi 2021 - - - - Europe - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease OPH3784 PubMed: Nassisi 2021 - - - - Africa-N - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease SRP266 PubMed: Nassisi 2021 - - - - - - - - - 1 Johan den Dunnen
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 ACMG likely pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Nassisi 2021 - - Germline - - - - - DNA SEQ - - retinal disease OPH1710 PubMed: Nassisi 2021 - - - - Europe - - - - 1 Johan den Dunnen
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.005 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.013 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG pathogenic g.57935275T>A g.57901371T>A CNGB1 c.2957A>T, p.(Asn986Ile) - CNGB1_000004 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.014 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - likely pathogenic g.57935275T>A g.57901371T>A CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.2794+1G>A/p.? - CNGB1_000004 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 711 PubMed: Weisschuh 2020 Filing key number: 266, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Parent #1 - likely pathogenic g.57935275T>A g.57901371T>A CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.3044_3050del/p.G1015Vfs*4 - CNGB1_000004 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1054 PubMed: Weisschuh 2020 Filing key number: 652, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 29 c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic (recessive) g.57935275T>A - c.2957A>T - CNGB1_000004 - PubMed: Colombo-2020 - rs201162411 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic g.57935275T>A - c.2957A>T - CNGB1_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) - pathogenic g.57935275T>A - c.2957A>T - CNGB1_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 29 c.2957A>T r.(?) p.(Asn986Ile) Parent #2 - pathogenic g.57935275T>A - c.2957A>T - CNGB1_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.2957A>T r.(?) p.(Asn986Ile) Both (homozygous) ACMG pathogenic (recessive) g.57935275T>A - - - CNGB1_000004 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-965947 rs201162411 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 4271149 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown ACMG pathogenic (recessive) g.57935275T>A g.57901371T>A - - CNGB1_000004 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 166891 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-469 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.2957A>T r.(?) p.(Asn986Ile) Unknown - likely pathogenic g.57935275T>A - CNGB1(NM_001297.5):c.2957A>T (p.N986I) - CNGB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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