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.

452 entries on 5 pages. Showing entries 1 - 100.
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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     
+/. c.852+4751A>T c.852+4751A>T r.spl p.(?) Maternal (confirmed) ACMG pathogenic (recessive) g.36494957C>T g.38339074C>T CNGB3; Transcript NM_019098.4; c.852+4751A>T; g.8:87674402T>A - CNGB3_000001 heterozygous PubMed: DiScipio 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel-based testing retinal disease 3.II:1 PubMed: DiScipio 2020 - M - - - - - - - 1 LOVD
+/. c.852+4751A>T c.852+4751A>T r.spl p.(?) Maternal (confirmed) ACMG pathogenic (recessive) g.87674402T>A g.86662174T>A CNGB3; Transcript NM_019098.4; c.852+4751A>T; g.8:87674402T>A - CNGB3_000001 heterozygous PubMed: DiScipio 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel-based testing STGD 3.II:2 PubMed: DiScipio 2020 - M - - - - - - - 1 LOVD
+/. c.852+4751A>T c.852+4751A>T r.spl p.(?) Maternal (confirmed) ACMG pathogenic (recessive) g.87656009del g.86643781del CNGB3; Transcript NM_019098.4; c.852+4751A>T; g.8:87674402T>A - CNGB3_000001 heterozygous PubMed: DiScipio 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel-based testing WEST 3.II:3 PubMed: DiScipio 2020 - M - - - - - - - 1 LOVD
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - RD 61036 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) ACMG pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - ACHM 71ORG1 PubMed: de Castro-Miró 2016 - F yes Saudi Arabia - - - - - 1 Marta de Castro-Miró
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Unknown - pathogenic g.87656009del g.86643781del CNGB3(NM_019098.4):c.1148delC (p.(Thr383Ilefs*13)), CNGB3(NM_019098.4):c.1148delC (p.T383Ifs*13), CNGB3(NM_019098.5):c.1148delC (p.T383Ifs*13) - CNGB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Unknown - pathogenic g.87656009del g.86643781del CNGB3(NM_019098.4):c.1148delC (p.(Thr383Ilefs*13)), CNGB3(NM_019098.4):c.1148delC (p.T383Ifs*13), CNGB3(NM_019098.5):c.1148delC (p.T383Ifs*13) - CNGB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Unknown - pathogenic g.87656009del g.86643781del CNGB3(NM_019098.4):c.1148delC (p.(Thr383Ilefs*13)), CNGB3(NM_019098.4):c.1148delC (p.T383Ifs*13), CNGB3(NM_019098.5):c.1148delC (p.T383Ifs*13) - CNGB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Unknown - pathogenic g.87656009del g.86643781del CNGB3(NM_019098.4):c.1148delC (p.(Thr383Ilefs*13)), CNGB3(NM_019098.4):c.1148delC (p.T383Ifs*13), CNGB3(NM_019098.5):c.1148delC (p.T383Ifs*13) - CNGB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*12) Both (homozygous) - pathogenic g.87656008del - 1148delC - CNGB3_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel African-N;Jewish - - - - 1 Dror Sharon
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*12) Unknown - pathogenic g.87656008del - 1148delC - CNGB3_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Jewish-Ashkenazi - - - - 4 Dror Sharon
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del g.86643781del 1148dekC - CNGB3_000001 - - - - Germline yes - - - - DNA SEQ-NG - Gene Panel (79 IRD genes) COD IRD4.0_#15 Manuscript under review (González-del Pozo et al., 2018) - M ? Spain - - - - - 1 María González-del Pozo
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Maternal (confirmed) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Sundin 2000, OMIM:var0002 - - 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
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Paternal (confirmed) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 no variant 2nd allele reported PubMed: Sundin 2000 - - Germline - - - - - DNA SEQ - - ACHM 10888875-Fam3 PubMed: Sundin 2000 affected female F ? Micronesia Pingelapese islanders - - - - 1 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Maternal (confirmed) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO12 PubMed: Kohl 2000 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M - - white - - - - 2 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Paternal (confirmed) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - 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
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO56 PubMed: Kohl 2000 2-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F - - white - - - - 3 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO92 PubMed: Kohl 2000 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M - - white - - - - 2 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Paternal (confirmed) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 no variant 2nd allele reported PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO120 PubMed: Kohl 2000 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - - white - - - - 2 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO182 PubMed: Kohl 2000 2-generation family, 3 affected (F, 2?), unaffected heterozygous carrier parents/relatives F - - white - - - - 3 Johan den Dunnen
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO184 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - white - - - - 1 Johan den Dunnen
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Unknown - pathogenic g.87656009del g.86643781del CNGB3(NM_019098.4):c.1148delC (p.(Thr383Ilefs*13)), CNGB3(NM_019098.4):c.1148delC (p.T383Ifs*13), CNGB3(NM_019098.5):c.1148delC (p.T383Ifs*13) - CNGB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - VUS g.87656009del g.86643781del - - CNGB3_000001 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397515360 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown ACMG pathogenic g.87656009del g.86643781del - - CNGB3_000001 ACMG: PVS1,PM3,PP1; compound heterozygous with CNGB3: c.819_826del p(.Arg274Valfs*13) on other allele; Sundin et al. 2000. Nat Genet 25: 289; Kohl et al. 2005. Eur J Hum Genet 13: 302-8; Wiszniewski et al. 2007. Hum Genet 121: 433-9; Jespersgaard et al. 2019. Sci Rep 9: 1219; Liu et al. 2013. Mol 19: 1268 - - rs397515360 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic g.87656009del g.86643781del c.1148delC - CNGB3_000001 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown ACMG pathogenic g.87656009del - - - CNGB3_000001 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - pathogenic (recessive) g.87656009del - 1148delC/595delG - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - pathogenic (recessive) g.87656009del - 1148delC/595delG - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - pathogenic (recessive) g.87656009del - 1148delC/? - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 2nd variant not found. Probably out of the screening scope. - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 1148delC/1148delC - CNGB3_000001 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 8:87656008AG>A ENST00000320005.5:c.1148delC (Thr383IlefsTer13) - CNGB3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240280 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 8:87656008AG>A ENST00000320005.5:c.1148delC (Thr383IlefsTer13) - CNGB3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001290 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del - 8:87656008AG>A ENST00000320005.5:c.1148delC (Thr383IlefsTer13) - CNGB3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005509 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic (recessive) g.87656009del - 8:87656008AG>A ENST00000320005.5:c.1148delC (Thr383IlefsTer13) - CNGB3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000373 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic (recessive) g.87656009del - 8:87656008AG>A ENST00000320005.5:c.1148delC (Thr383IlefsTer13) - CNGB3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000192 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #2 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 86795 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14000069 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14012482 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 no variant 2nd chromosome identified PubMed: Wawrocka 2018 - - Germline - - - - - DNA SEQ - - retinal disease Fam6 PubMed: Wawrocka 2018 - - - Poland - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del c.1148delC - CNGB3_000001 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Matet 2018 - F yes - white - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #2 ACMG pathogenic (recessive) g.87656009del g.86643781del c.1148delC - CNGB3_000001 - PubMed: Mayer 2017, PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease ?;Pat14 PubMed: Mayer 2017, PubMed: Matet 2018 - F no - white - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Bryant 2018 - rs397515360 Germline - - - - - DNA SEQ-NG - WES retinal disease JB426 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam33PatFBP_171 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #2 - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam5PatFBP_3 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat8 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat9 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic (recessive) g.87656009del g.86643781del - - CNGB3_000001 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat10 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Sheremet 2017 - - Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat23 PubMed: Sheremet 2017 patient F - Russia - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD13–08 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 461 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Parent #1 - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 457 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 458 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 459 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 460 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5612 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5612 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383IlefsTer13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del - - CNGB3_000001 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/14 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12004242 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13002658 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13000861 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13002676 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13015850 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12006121 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12001563 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-509-1049 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Parent #2 - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-494-1018 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease JC_1208 PubMed: Dubis 2015 - M - - - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Both (homozygous) - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0004 PubMed: Dubis 2015 - M - - - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Parent #1 - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0005 PubMed: Dubis 2015 - M - - - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Parent #1 - pathogenic (recessive) g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0085 PubMed: Dubis 2015 - F - - - - - - - 1 LOVD
+/. - c.1148del r.(?) p.(Thr383IlefsTer13) Parent #2 - pathogenic g.87656009del g.86643781del 1148delC - CNGB3_000001 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat10 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del - c.1148delC - CNGB3_000001 Check also: Sundin 2000 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del - c.1148delC - CNGB3_000001 Check also: Sundin 2000 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del - c.1148delC (p.T383IfsX13) - CNGB3_000001 - PubMed: Thiadens_2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2010 - - - Netherlands - - - - - 1 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - likely pathogenic g.87656009del - c.1148delC (p.T383IfsX13) - CNGB3_000001 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 37 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del - c.1148delC (p.T383IfsX13) - CNGB3_000001 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 10 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del - c.1148delC (p.T383IfsX13) - CNGB3_000001 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 4 LOVD
+?/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - likely pathogenic g.87656009del - c.1148delC (p.T383IfsX13) - CNGB3_000001 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 2 LOVD
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) ACMG pathogenic g.87656009del g.86643781del - - CNGB3_000001 - Tracewska 2021, MolVis in press - - Germline yes 0,00136 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 276 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 10 c.1148del r.spl p.(Thr383Ilefs*13) Unknown ACMG pathogenic g.87656009del g.86643781del - - CNGB3_000001 - Tracewska 2021, MolVis in press - - Germline - 0,00136 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 355 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. - c.1148del r.(?) p.(Thr383Ilefs*13) Maternal (confirmed) - likely pathogenic g.87656009del g.86643781del NM_019098, c.1148del, p.Thr383IlefsTer13 - CNGB3_000001 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP175, II:1 ? no Spain - - - - - 1 LOVD
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Unknown - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 10 c.1148del r.(?) p.(Thr383Ilefs*13) Both (homozygous) - pathogenic g.87656009del - c.1148delC - CNGB3_000001 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
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