Full data view for gene BBS10

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024685.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A g.76348214G>A BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp)) - BBS10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145C>T r.(?) p.(Arg49Trp) Paternal (confirmed) - VUS g.76741994G>A g.76348214G>A - - BBS10_000097 - PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR704-0311 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #1 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #1 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #2 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #2 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #1 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - Newfoundland - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Parent #1 - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - likely pathogenic g.76741994G>A - c.145C>T (p.R49W) - BBS10_000097 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) - likely pathogenic g.76741994G>A - c.145C>T (p.Arg49Trp) - BBS10_000097 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - M - - - - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+/. 1 c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) - pathogenic g.76741994G>A - [R49W]+[R49W] - BBS10_000097 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Polish - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) - likely pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Schaefer-2011 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Schaefer-2011 - - - France french - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - [p.T488K] - BBS10_000097 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - yes - Pakistani - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - [p.L665F] - BBS10_000097 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Ghanian - - - - 1 LOVD
+?/. 1 c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) - likely pathogenic g.76741994G>A - K41fsX52/K41fsX52 - BBS10_000097 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - c.145C>T(p.Arg49Trp);het - BBS10_000097 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-03 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - c.145C>T(p.Arg49Trp);het - BBS10_000097 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR704-04 PubMed: Lindstrand-2014 - F - - N.European - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - p.R49W - BBS10_000097 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ, SEQ-NG blood targeted exome sequencing retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - - - - 1 LOVD
?/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.76741994G>A - p.R49W - BBS10_000097 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ, SEQ-NG blood targeted exome sequencing retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49Trp) Parent #1 - likely pathogenic g.76741994G>A g.76348214G>A BBS10, variant 1: c.145C>T/p.R49W, variant 2: c.145C>T/p.R49W - BBS10_000097 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 287 PubMed: Weisschuh 2020 Filing key number: 95, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) - VUS g.76741994G>A g.76348214G>A BBS10 (NM_024685) (LOVD#0000263557), c.145C > T, p.(Arg49Trp), Missense - BBS10_000097 homozygous PubMed: Gumus 2021 - - Germline yes - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 6 PubMed: Gumus 2021 - F - Turkey - - - - - 1 LOVD
+/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Jeziorny-2020 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Jeziorny-2020 - M - - - - - - - 1 LOVD
+/. 1 c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - c.145C>T - BBS10_000097 - PubMed: Jeziorny-2020 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Jeziorny-2020 - M - - - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic (recessive) g.76741994G>A g.76348214G>A BBS10 c.145C>T, p.(Arg49Trp) - BBS10_000097 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease G.II-3 PubMed: Delvallee 2021 - - - France - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic (recessive) g.76741994G>A g.76348214G>A BBS10 c.145C>T, p.(Arg49Trp) - BBS10_000097 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease G.II-4 PubMed: Delvallee 2021 - - - France - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49Trp) Maternal (confirmed) - likely pathogenic g.76741994G>A g.76348214G>A BBS10 c.145C>T, p.(Arg49Trp) - BBS10_000097 heterozygous PubMed: Paolacci 2019 - - Germline ? - - - - DNA SEQ - clinical exome BBS ? PubMed: Paolacci 2019 fetus aborted at ~19 weeks gestation - - - - - - - - 1 LOVD
+/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp)) - BBS10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Arg49Trp) Both (homozygous) ACMG likely pathogenic (recessive) g.76741994G>A g.76348214G>A - - BBS10_000097 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 225010 - Germline - - - - - DNA SEQ-NG - WGS ? BBS-72 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp)) - BBS10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp)) - BBS10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - pathogenic g.76741994G>A - BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp)) - BBS10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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