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.

77 entries on 1 page. Showing entries 1 - 77.
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     
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741496dup g.76347716dup - - BBS10_000002 founder mutation - - rs549625604 Germline yes - - - - DNA SEQ-NG - - BBS10 - - - - ? - - - - Yes - 1 Karen Stals
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup g.76347714dup c.271dupT - BBS10_000002 - 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.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic (recessive) g.76741494dup g.76347714dup c.271dupT - BBS10_000002 - PubMed: Holtan 2020 - - Germline - 6/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 6 homozygous patients - - Norway - - - - - 6 Global Variome, with Curator vacancy
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup 268_269insT - BBS10_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 6 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741496dup g.76347716dup 268_269insT - BBS10_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 612 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #2 - likely pathogenic g.76741496dup g.76347716dup 268_269insT - BBS10_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 6 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741496dup g.76347716dup 271dupT - BBS10_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13000378 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) ACMG pathogenic g.76741496dup g.76347716dup BBS10 c.271dup, p.(Cys91Leufs*5), c.271dup, p.(Cys91Leufs*5) - BBS10_000002 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 44 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) ACMG pathogenic g.76741496dup g.76347716dup BBS10 c.271dup, p.(Cys91Leufs*5), c.271dup, p.(Cys91Leufs*5) - BBS10_000002 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 45 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Unknown ACMG pathogenic g.76741496dup g.76347716dup BBS10 c.271dup, p.(Cys91Leufs*5) - BBS10_000002 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 348 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Unknown ACMG pathogenic g.76741496dup g.76347716dup RPGRIP1 c.194G>A, p.(Trp65*), MAKBBS10 c.1367_1368insT, p.(Lys456Asnfs*12), c.271dup, p.(Cys91Leufs*5) - BBS10_000002 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 465 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #2 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, {PMID:Stoetzel 2006; 17160889}, PubMed: Stoetzel 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, {PMID:Stoetzel 2006; 17160889}, PubMed: Stoetzel 2007 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #2 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - Newfoundland - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - C Newfoundland - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - C Newfoundland - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 5 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 2 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #2 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 2 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741494dup - c.271insT - BBS10_000002 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - Newfoundland - - - - 4 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - F - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - M - - - - - - - 1 LOVD
+/. 2 c.271dup c.271dup p.(Cys91Leufs*5) Both (homozygous) ACMG pathogenic g.76741496dup g.76347716dup BBS10 c.271dup, p.(Cys91Leufs*5) - BBS10_000002 homozygous PubMed: Manara 2019 - rs549625604 Germline ? - - - - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 5 PubMed: Manara 2019 - M - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease A3185-II1 PubMed: Janssen-2011 - - - United States - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR151(A2834)-04 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006 PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR232(A2839)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006 PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR232(A2839)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 Family AR371 (A2850) and AR707 (A2864) have previously been published for this heterozygous change in BBS10 (p.C91fsX5) by Stoetzel et al. 2006 PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR371(A2850)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR515(A2857)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR707(A2864)-08 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR707(A2864)-08 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741494dup - c.271_272insT(H) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR880(A2881)-04 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease F1(A2891)-04 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271_272insT(h) - BBS10_000002 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease F1(A2891)-05 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271_272insT/p.(Cys91Leufs*4) - BBS10_000002 - PubMed: Alvarez-Satta-2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 9RE PubMed: de Castro-MirĂ³-2014 - - - - - - - - - 1 LOVD
+?/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741494dup - c.271_272insT/p.(Cys91Leufs*4) - BBS10_000002 - PubMed: Alvarez-Satta-2014 - - Germline - - - - - DNA SEQ-NG - - retinal disease GBB16 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741494dup - c.271dupT(Cys91Leufs*5);hom - BBS10_000002 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease DM012-003 PubMed: Lindstrand-2014 - M - - N.European - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.235dupA/c.271dupT (T79Nfs*17/p.C91LfsX5) - BBS10_000002 - PubMed: Esposito 2017 - - Germline - - - - - DNA arraySNP blood BBS-ALMS1 mutation array retinal disease P.13 PubMed: Esposito 2017 - - - Italy - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Ullah-2017 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease D:V-1 PubMed: Ullah-2017 - M yes Pakistan - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741494dup - c.271_272insT - BBS10_000002 - PubMed: Ullah-2017 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease D:V-2 PubMed: Ullah-2017 - M yes Pakistan - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5 - BBS10_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 23 PubMed: Weisschuh 2020 Filing key number: 13, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5 - BBS10_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 29 PubMed: Weisschuh 2020 Filing key number: 15, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5 - BBS10_000002 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 30 PubMed: Weisschuh 2020 Filing key number: 16, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5 - BBS10_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 95 PubMed: Weisschuh 2020 Filing key number: 46, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - likely pathogenic g.76741496dup g.76347716dup BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5 - BBS10_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 101 PubMed: Weisschuh 2020 Filing key number: 48, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.Cys91LeufsTer5 - BBS10_000002 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001418 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Unknown - pathogenic g.76741494dup - c.271dupT - BBS10_000002 - PubMed: Jeziorny-2020 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Jeziorny-2020 - M - - - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - pathogenic (recessive) g.76741494dup - c.[271dup];[271dup] - BBS10_000002 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 25 gestation weeks M - France - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #2 - pathogenic (recessive) g.76741494dup - c.[271dup];[271dup] - BBS10_000002 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 25 gestation weeks M - France - - - - - 1 LOVD
+/. 2 c.271dup r.(?) p.(Cys91Leufs*5) Parent #1 - pathogenic (recessive) g.76741494dup - c.[271dup];[728_731del] - BBS10_000002 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 19 gestation weeks F - France - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741496dup g.76347716dup BBS10 c.271dup, p.(Cys91Leufs*5) - BBS10_000002 homozygous PubMed: Barabino 2020 - - In vitro (cloned) ? - - - - DNA, RNA SEQ-NG, SEQ induced pluripotent stem cells iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets BBS BBS01 PubMed: Barabino 2020 an experiment involving cell line derived from patient - - - - - - - - 1 LOVD
+/. - c.271dup r.(?) p.(Cys91LeufsTer5) Unknown ACMG pathogenic (recessive) g.76741496dup g.76347716dup - - BBS10_000002 ACMG PM2, PVS1_STRONG, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BBS-73 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.271dup r.(?) p.(Cys91LeufsTer5) Unknown ACMG pathogenic (recessive) g.76741496dup g.76347716dup - - BBS10_000002 ACMG PM2, PVS1_STRONG, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-362-1 PubMed: Weisschuh 2024 family, 3 affected M - Germany - - - - - 3 Johan den Dunnen
?/. - c.271dup r.(?) p.(Cys91LeufsTer5) Unknown - VUS g.76741496dup - BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5) - BBS10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.271dupT r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.Cys91LeufsX5 - BBS10_000002 homozygous PubMed: Putoux 2010 - - Germline yes - - - - DNA SEQ blood - BBS 1 PubMed: Putoux 2010 - F - - - - - - - 1 LOVD
+?/. - c.271dupT r.(?) p.(Cys91Leufs*5) Both (homozygous) - likely pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.Cys91LeufsX5 - BBS10_000002 homozygous PubMed: Putoux 2010 - - Germline yes - - - - DNA SEQ frozen fetal tissues - BBS 2 PubMed: Putoux 2010 - F - - - - - - - 1 LOVD
+?/. - c.271dupT r.(?) p.(Cys91Leufs*5) Maternal (confirmed) - likely pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.Cys91LeufsX5 - BBS10_000002 heterozygous PubMed: Putoux 2010 - - Germline yes - - - - DNA SEQ frozen fetal tissues - BBS 3 PubMed: Putoux 2010 - F - - - - - - - 1 LOVD
+?/. - c.271dupT r.(?) p.(Cys91Leufs*5) Paternal (confirmed) - likely pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.Cys91LeufsX5 - BBS10_000002 heterozygous PubMed: Putoux 2010 - - Germline yes - - - - DNA SEQ frozen fetal tissues - BBS 5 PubMed: Putoux 2010 - F - - - - - - - 1 LOVD
+/. - c.271dupT r.(?) p.(Cys91Leufs*5) Both (homozygous) - pathogenic g.76741496dup g.76347716dup BBS10 c.271insT, p.(Cys91fsX95) - BBS10_000002 homozygous PubMed: Brunbjerg-Hey 2018 - - In vitro (cloned) ? - - - - DNA ? dermal fibroblasts - BBS 1 PubMed: Brunbjerg-Hey 2018 induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS M - - - - - - - 1 LOVD
+?/. - c.271dupT r.(?) p.(Cys91Leufs*5) Unknown - likely pathogenic g.76741496dup g.76347716dup BBS10 c.271dupT, p.(Cys91Leufs*5) - BBS10_000002 father's DNA unavaiable; heterozygous PubMed: Paolacci 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ - clinical exome BBS ? PubMed: Paolacci 2019 fetus aborted at ~19 weeks gestation - - - - - - - - 1 LOVD
Legend   How to query  


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