Full data view for gene CNGB3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_019098.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
Legend   How to query  

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     
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Unknown - pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3(NM_019098.5):c.819_826delCAGACTCC (p.R274Vfs*13) - CNGB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Paternal (confirmed) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Sundin 2000 - - Germline yes - - - - DNA SEQ - - ACHM 10888875-Fam2 PubMed: Sundin 2000 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Micronesia Pingelapese islanders - - - - 2 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Maternal (confirmed) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO17 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - white - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Unknown - pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3(NM_019098.5):c.819_826delCAGACTCC (p.R274Vfs*13) - CNGB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - pathogenic (recessive) g.87679179_87679186del - 819-826del8 - CNGB3_000044 - PubMed: Eksandh 2002 - - Germline ? - - - - DNA SEQ - - retinal disease FamHPatII1 PubMed: Eksandh 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Sweden - - - - - 1 Julia Lopez
+?/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - likely pathogenic g.87679179_87679186del - p.P273fs - CNGB3_000044 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - pathogenic (recessive) g.87679179_87679186del - 8:87679178TGGAGTCTG>T ENST00000320005.5:c.819_826delCAGACTCC (Arg274ValfsTer13) - CNGB3_000044 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000373 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Both (homozygous) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Wawrocka 2018 - - Germline - - - - - DNA SEQ - - retinal disease Fam12 PubMed: Wawrocka 2018 - - - Poland - - - - - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat11 PubMed: Matet 2018 - F no - white - - - - 1 LOVD
+/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Parent #2 - pathogenic g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Sheremet 2017 - - Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat23 PubMed: Sheremet 2017 patient F - Russia - - - - - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - pathogenic g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 9644 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - likely pathogenic g.87679179_87679186del - c.819_826del8 (p.R274VfsX12) - CNGB3_000044 - PubMed: Thiadens_2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2010 - M - Netherlands - - - - - 1 LOVD
+?/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - likely pathogenic g.87679179_87679186del - c.819_826del8 (p.R274VfsX12) - CNGB3_000044 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 2 LOVD
+?/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - likely pathogenic g.87679179_87679186del - c.819_826del8 (p.R274VfsX12) - CNGB3_000044 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 1 LOVD
+/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Unknown ACMG pathogenic g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 251 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 6 c.819_826del r.(?) p.(Arg274Valfs*13) Paternal (inferred) ACMG pathogenic g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 326 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Paternal (confirmed) - pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3: c.[819_826del];[1208G>A], p.[R274Vfs*13];[R403Q]CNGA3: c.[1279C>T];[=] - CNGB3_000044 - PubMed: Burkhard 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease 16 PubMed: Burkhard 2018 - M no - - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - likely pathogenic g.87679181_87679188del g.86666953_86666960del c.1578+1G-->A, c.819_826del; p.?, p.Arg274Valfs*13 - CNGB3_000044 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ACHM3 271 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - likely pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3, variant 1: c.819_826del/p.P274Pfs*14, variant 2: c.1148del/p.T383Ifs*13 - CNGB3_000044 error in annotation, protein change should be p.(Arg274Valfs*13) and not p.(Pro274Profs*14), solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1172 PubMed: Weisschuh 2020 Filing key number: 847, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - likely pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3, variant 1: c.819_826del/p.P274Pfs*14, variant 2: c.1148del/p.T383Ifs*13 - CNGB3_000044 error in annotation, protein change should be p.(Arg274Valfs*13) and not p.(Pro274Profs*14), solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 1173 PubMed: Weisschuh 2020 Filing key number: 847, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - likely pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3, variant 1: c.819_826del/p.P274Pfs*14, variant 2: c.1006G>T/p.E336* - CNGB3_000044 error in annotation, protein change should be p.(Arg274Valfs*13) and not p.(Pro274Profs*14), solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 1185 PubMed: Weisschuh 2020 Filing key number: 872, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Parent #1 - likely pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3, variant 1: c.1148del/p.T383Ifs*13, variant 2: c.819_826del/p.R274Vfs*13 - CNGB3_000044 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1303 PubMed: Weisschuh 2020 Filing key number: 1183, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3 c.819_826delCAGACTCC, p.Arg274ValfsTer13 - CNGB3_000044 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000373 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ - - retinal disease CHRO117 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Weisschuh 2020 - - Germline - - - - - DNA SEQ - - retinal disease CHRO1138 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 no variant 2nd chromosome PubMed: Weisschuh 2020 - - Germline - - - - - DNA SEQ - - retinal disease ZD54 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Unknown - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del c.819_826del8 - CNGB3_000044 no variant 2nd chromosome (qPCR analysis negative) PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO117-8606 PubMed: Mayer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Maternal (confirmed) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del c.819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO290-10754 PubMed: Mayer 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Both (homozygous) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27715 PubMed: Mayer 2017 2 families, 3 affected - - - - - - - - 3 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27719 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27721 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27741 PubMed: Mayer 2017 21 families, 24 affected - - - - - - - - 24 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27747 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27749 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27751 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27755 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27771 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27794 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27795 PubMed: Mayer 2017 3 families, 3 affected - - - - - - - - 3 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #2 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27790 PubMed: Mayer 2017 1 families, 2 affected - - - - - - - - 2 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #2 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27791 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #2 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Mayer 2017 SCV000575785 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27792 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamIPatII1 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #2 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamHPatII1 PubMed: Varsanyi 2005 family, 2 affected F - Hungary - - - - - 2 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #2 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamHPatII2 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Maternal (confirmed) - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Wawrocka 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease PCI-020 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease BPE-018 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease CEI-002 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease PCI-012 PubMed: Langlo 2014 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 - pathogenic (recessive) g.87679181_87679188del g.86666953_86666960del 819_826del8 - CNGB3_000044 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease PCI-013 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.819_826del r.(?) p.(Arg274ValfsTer13) Unknown - likely pathogenic g.87679181_87679188del g.86666953_86666960del NM_019098.5(CNGB3):c.819_826del (het)CNGB3 EX7 DUP - CNGB3_000044 heterozygous PubMed: Bergant 2021 - - Germline yes - - - - DNA SEQ blood whole genome sequencing after negative exome retinal disease P09 PubMed: Bergant 2021 - - - Italy - - - - - 1 LOVD
+?/. - c.819_826del r.(?) p.(Arg274Valfs*13) Unknown - likely pathogenic g.87679181_87679188del g.86666953_86666960del CNGB3 c.819_826del, (p.Arg274Valfs*13) - CNGB3_000044 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 11 PubMed: Matet 2018 - F no France white - - - - 1 LOVD
+/. 6 c.819_826del r.(?) p.(Arg274ValfsTer13) Parent #1 ACMG pathogenic g.87679181_87679188del g.86666953_86666960del - - CNGB3_000044 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 080605 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.