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.

517 entries on 6 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     
?/. 1 c.-52C>T r.(=) p.(=) Unknown - VUS g.76742190G>A - c.-52C>T - BBS10_000188 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91W/V707fs708X - ALX1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91fs95X/R103fs110X† - ALX1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91fs95X/R103fs110X† - ALX1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91W/A474fs483X - ALX1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91W/A474fs483X - ALX1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - S73fsX91 - ALX1_000001 - PubMed: Leitch-2008 - - Germline - 0/96 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Leitch-2008 - M - - Lebanese - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - Q242fsX258 - ALX1_000001 - PubMed: Leitch-2008 - - Germline - 0/96 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Leitch-2008 - M - - Saudi Arabian - - - - 1 LOVD
+/. - c.? r.(?) p.V707XfsX1 Parent #2 - pathogenic g.? - [C91W]+[V707XfsX1] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British/Irish/Scottish - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[E104KfsX7] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British/Irish/Scottish - - - - 1 LOVD
+/. - c.? r.(?) p.E104KfsX7 Parent #2 - pathogenic g.? - [C91LfsX5]+[E104KfsX7] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British/Irish/Scottish - - - - 1 LOVD
+/. - c.? r.(?) p.A474MfsX10 Parent #2 - pathogenic g.? - [C91W]+[A474MfsX10] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - German/Italian - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[V230FfsX7] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Polish - - - - 1 LOVD
+/. - c.? r.(?) p.V230FfsX7 Parent #2 - pathogenic g.? - [C91LfsX5]+[V230FfsX7] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Polish - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[Y559X] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Irish - - - - 1 LOVD
+/. - c.? r.(?) p.Y559X Parent #2 - pathogenic g.? - [C91LfsX5]+[Y559X] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Irish - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Both (homozygous) - pathogenic g.? - [C91LfsX5]+[C91LfsX5] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - English/Irish/German/Norwegian - - - - 1 LOVD
+/. - c.? r.(?) p.E274VfsX29 Parent #2 - pathogenic g.? - [L55P]+[E274VfsX29] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[L414S] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Brit/Fr/German - - - - 1 LOVD
+/. - c.? r.(?) p.L414S Parent #2 - pathogenic g.? - [C91LfsX5]+[L414S] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Brit/Fr/German - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[H410Q] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Parent #1 - pathogenic g.? - [C91LfsX5]+[H410Q] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British - - - - 1 LOVD
+/. - c.? r.(?) p.C91LfsX5 Both (homozygous) - pathogenic g.? - [C91LfsX5]+[C91LfsX5] - ALX1_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Danish/Dutch/Norwegian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - VUS g.? - c.1090del>A - ALX1_000001 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - VUS g.? - c.272 insertion T - ALX1_000001 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - c.[1448e1452delCTCAA];[?] - ALX1_000001 unknown variant 2nd chromosome PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - c.[2119e2120delGT];[285A>T] - ALX1_000001 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.L55P];[p.E274VfsX29] - ALX1_000001 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 - - - - South African Black/European/Asian - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.A242S] - ALX1_000001 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - British - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.C91LfsX5];[p.H410Q] - ALX1_000001 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - British - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.C91LfsX5];[p.H410Q] - ALX1_000001 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 - - - - British - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.F534A] - ALX1_000001 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 - - - - British - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - C91fsX95/C91fsX95 - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - F372fsX373/F372fsX373 - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - T257fsX266/T257fsX266 - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - - - - French - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.M390R];[p.M390R] - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Swiss - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.125R];[p.L125R] - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M yes - Dene - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.T157T];[p.T157T] - ALX1_000001 - PubMed: Deveault-2012 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel - yes - Somalian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - (c.157-3C>G)+(c.157-3C>G) - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F yes - Iraqi - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - (c.157-3C>G)+(c.157-3C>G) - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M yes - Iraqi - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.V400M; p.R674C];[p.V400M; p.R674C] - ALX1_000001 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - Danish/Dutch/Norwegian - - - - 1 LOVD
+/. 2 c.? r.(?) p.? Unknown - pathogenic g.? - c.687delA(h) - ALX1_000001 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease A3185-II1 PubMed: Janssen-2011 - - - United States - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - p.Gln359* - ALX1_000001 - PubMed: Khan 2013 - - Germline - 50 control individuals - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa F yes Pakistan - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - p.Gln359* - ALX1_000001 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - p.Gln359* - ALX1_000001 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - p.Gln359* - ALX1_000001 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - p.Gln359* - ALX1_000001 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Cys91fs*4) Unknown - likely pathogenic g.? - p.(Cys91fs*4) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Glu337del) Unknown - likely pathogenic g.? - p.(Glu337del) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Leu533Leufs*21) Unknown - likely pathogenic g.? - p.(Leu533Leufs*21) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr559fs*17) Both (homozygous) - likely pathogenic g.? - p.(Tyr559fs*17) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - F - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr559fs*17) Both (homozygous) - likely pathogenic g.? - p.(Tyr559fs*17) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - - - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Cys91fs*4) Unknown - likely pathogenic g.? - p.(Cys91fs*4) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr503fs*17) Unknown - likely pathogenic g.? - p.(Tyr503fs*17) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Cys91fs*4) Unknown - likely pathogenic g.? - p.(Cys91fs*4) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr503fs*17) Unknown - likely pathogenic g.? - p.(Tyr503fs*17) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Cys91fs*4) Unknown - likely pathogenic g.? - p.(Cys91fs*4) - ALX1_000001 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr559*) Both (homozygous) - likely pathogenic g.? - p.Tyr559* - ALX1_000001 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - F yes - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr559*) Both (homozygous) - likely pathogenic g.? - p.Tyr559* - ALX1_000001 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - F yes - - - - - - 1 LOVD
?/. - c.? r.(?) p.(V707fs*) Unknown - VUS g.? - p.V707fs* - ALX1_000001 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ, SEQ-NG blood targeted exome sequencing retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? g.? BBS10 single-base pair duplication in exon 2, led to premature truncation of protein downstream of codon 91 - ALX1_000001 no real mutation annotation, most probably a known c.271dup, p.(Cys91Leufs*5) variant; homozygous PubMed: Kaur 2021 - - Germline yes - - - - DNA SEQ-NG - targeted exome sequencing BBS BBS01 PubMed: Kaur 2021 born of third degree consanguineous marriage M yes India Jammu region - - - - 1 LOVD
+/. 1 c.9_14del r.(?) p.(Ser3_Met5delinsArg) Unknown - pathogenic g.76742125_76742130del - c.9_14delTTCTAT(p.Ser3_Met5delinsArg);het - BBS10_000199 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease RC1-03 PubMed: Lindstrand-2014 - M - - Latino - - - - 1 LOVD
+/. - c.9_15delinsGC r.(?) p.(Ser3Argfs*91) Both (homozygous) - pathogenic g.76742124_76742130delinsGC g.76348344_76348350delinsGC - - BBS10_000116 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 2405 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. 1 c.9_15delinsGC r.(?) p.(Ser3Argfs*91) Unknown - pathogenic g.76742124_76742130delinsGC - c.9_15delinsGC(p.S3Rfs*91) - BBS10_000116 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG, arrayCGH, SEQ blood - retinal disease 1 PubMed: Wang 2016 - M - United States - - - - - 1 LOVD
+?/. 1 c.32T>G r.(?) p.(Val11Gly) Unknown - likely pathogenic g.76742107A>C - S311A/V11G - BBS10_000139 - PubMed: Laurier-2006 - - Germline yes 0/107 Lebanese controls; 0/96 French controls - - - DNA microsat, SEQ blood Whole-genome scan microsatellite analysis retinal disease - PubMed: Laurier-2006 - M yes Lebanon Muslim Sunni - - - - 1 LOVD
+?/. - c.39_46del r.(?) p.(Ala14Glyfs*79) Both (homozygous) - likely pathogenic g.76742095_76742102del g.76348315_76348322del BBS10 c.39_46delGGCGTTGC - BBS10_000222 homozygous PubMed: Ladino 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ - - BBS ? PubMed: Ladino 2018 (article in Spanish) M yes Colombia - - - - - 1 LOVD
+?/. 1 c.92C>T r.(?) p.(Pro31Leu) Unknown - likely pathogenic g.76742047G>A - c.92C>T - BBS10_000187 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. - c.98G>A r.(?) p.(Gly33Glu) Parent #1 - likely pathogenic g.76742041C>T g.76348261C>T BBS10 p.G33E, p.R709X - BBS10_000205 no c. position written in publication, probable position given - c.98G>A PubMed: Hirano 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease 8 PubMed: Hirano 2020 - F no Japan - - - - - 1 LOVD
+/. - c.98G>A r.(?) p.(Gly33Glu) Maternal (confirmed) - pathogenic g.76742041C>T g.76348261C>T BBS10 c.98G>A, p.(G33E) - BBS10_000205 heterozygous PubMed: Kurata 2018 - - Germline yes - - - - DNA SEQ blood - BBS ? PubMed: Kurata 2018 - F - Japan Japanese - - - - 1 LOVD
?/. - c.101G>C r.(?) p.(Arg34Pro) Unknown - VUS g.76742038C>G - BBS10(NM_024685.4):c.101G>C (p.R34P) - BBS10_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124A>T r.(?) p.(Thr42Ser) Unknown - VUS g.76742015T>A g.76348235T>A BBS10(NM_024685.4):c.124A>T (p.T42S) - BBS10_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.128A>G r.(?) p.? Parent #1 - pathogenic g.76742011T>C - c.128A>G - BBS10_000158 A not found at position given, found G instead. PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, {PMID:Stoetzel 2006; 17160889}, PubMed: Stoetzel 2007 - - - - white - - - - 1 LOVD
+/. - 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
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