Full data view for gene BBS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024649.4 transcript reference sequence.

744 entries on 8 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.(159+1_160-1)_(1110+1_1111-1) r.(?) p.(Leu54_Pro370del) Unknown - pathogenic (recessive) g.? g.? BBS1 c.(159+1_160-1)_(1110+1_1111-1), p.(Leu54_Pro370del) - NPHS1_000138 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease I.II-1 PubMed: Delvallee 2021 - - - France - - - - - 1 LOVD
+/. - c.-3291_1111-1020del r.? p.? Paternal (confirmed) - pathogenic g.66274840_66292574del - del exon1_11 - DPP3_000008 17,734 bp deletion, AluY - AluY PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR888-0311 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
-/. - c.-1555G>A r.(?) p.(=) Unknown - benign g.66276576G>A g.66509105G>A DPP3(NM_130443.3):c.2068G>A (p.E690K) - DPP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_12i c.(?_-12-1)_(1110+1_?)del r.(?) p.? Unknown - pathogenic g.(?_66278118)_(66291354_?)del - delexon1_11;het - BBS1_000219 - PubMed: Lindstrand-2014 - - Germline - - - - - DNA arrayCGH, SEQ, TaqMan - - retinal disease AR888-03 PubMed: Lindstrand-2014 - F - - Latino - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Met390Arg - DRD4_000002 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. 16 c.? r.(?) p.? Unknown - likely pathogenic g.66298461_66298463del - M390R/N524del† - DRD4_000002 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - D8D/R483X - DRD4_000002 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - R146X - DRD4_000002 - PubMed: Leitch-2008 - - Germline - 0/96 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Leitch-2008 - F - - Middle Eastern - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - R146X - DRD4_000002 - PubMed: Leitch-2008 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Leitch-2008 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - Q291X - DRD4_000002 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Eichers-2009, Beales 2003 - - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - L548fsX579 - DRD4_000002 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Eichers-2009, Beales 2003 both affected individuals have inherited two BBS1 mutant alleles (one missesnse and one frameshift) but only one of the two carries a third mutant allele of BBS6 (missense). - - - - - - - - 1 LOVD
?/. - c.? r.(?) p.F534A Unknown - VUS g.? - [F534A]+[=] - DRD4_000002 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Egyptian - - - - 1 LOVD
+/. - c.? r.(?) p.M242RfsX83 Parent #1 - pathogenic g.? - [M242RfsX83]+[M390R] - DRD4_000002 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - British/Irish/Scottish - - - - 1 LOVD
+/. - c.? r.(?) p.I296TfsX7 Both (homozygous) - pathogenic g.? - [I296TfsX7]+[I296TfsX7] - DRD4_000002 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Pakistani - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.V57V] - DRD4_000002 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - English/Irish/Scottish - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.T446T] - DRD4_000002 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 novel, additional mutation - yes - Arabic - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.C307W] - DRD4_000002 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 - - - - white - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.M390R];[p.L505PfsX52] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - English - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.R622X];[p.A136P] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Russian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.R238EfsX59];[p.S374X] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Italian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.C91W];[p.A474MfsX10] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - English/Irish/Scottish - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.C91LfsX5];[p.Y559X] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - Polish - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.K243IfsX15];[p.K243IfsX15] - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - South African Black - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - P134fsX200/L209fsX229 - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - C91fsX95/Y321X - DRD4_000002 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - - - - 1 LOVD
+?/. - c.? r.(?) p.(Asp278fs*9) Unknown - likely pathogenic g.? - p.(Asp278fs*9) - DRD4_000002 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - F - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(Asp278fs*9) Unknown - likely pathogenic g.? - p.(Asp278fs*9) - DRD4_000002 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(His504fs*48) Unknown - likely pathogenic g.? - p.(His504fs*48) - DRD4_000002 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.(?) p.(His504fs*48) Unknown - likely pathogenic g.? - p.(His504fs*48) - DRD4_000002 - PubMed: Castro Sanchez 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - F - Spain Spanish - - - - 1 LOVD
?/. - c.? r.(?) p.(G318Vfs*61) Unknown - VUS g.? - p.G318Vfs*61 - DRD4_000002 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Parent #1 ACMG likely pathogenic g.66277761_66300761dup g.66510290_66533290dup chr11, g.66277761_66300761dup, arr([GRCh37] 11q13.2(66,277,760-66,300,760)x3), heterozygous - DRD4_000002 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing ? RP-1581 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. 13 c.? r.(?) p.? Parent #1 - pathogenic (recessive) g.66293652G>T - c.[1169G>T];[1169G>T] - DRD4_000002 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 23 gestation weeks F - France - - - - - 1 LOVD
+/. 13 c.? r.(?) p.? Parent #2 - pathogenic (recessive) g.66293652G>T - c.[1169G>T];[1169G>T] - DRD4_000002 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 23 gestation weeks F - France - - - - - 1 LOVD
+?/. 3 c.1A>G r.? p.? Both (homozygous) - likely pathogenic g.66278131A>G - M1V - BBS1_000188 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. 3 c.1A>G r.? p.? Parent #1 - likely pathogenic g.66278131A>G - [p.M390R];[p.L505PfsX52] - BBS1_000188 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - English/Irish/Scottish - - - - 1 LOVD
-?/. - c.19T>A r.(?) p.(Ser7Thr) Unknown - likely benign g.66278149T>A g.66510678T>A BBS1(NM_024649.5):c.19T>A (p.S7T) - BBS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24T>C r.(?) p.(Asp8=) Unknown - benign g.66278154T>C g.66510683T>C BBS1(NM_024649.5):c.24T>C (p.D8=) - BBS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24T>C r.(?) p.(Asp8=) Unknown - benign g.66278154T>C g.66510683T>C BBS1(NM_024649.5):c.24T>C (p.D8=) - BBS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.24T>C r.(?) p.(Asp8=) Unknown - VUS g.66278154T>C g.66510683T>C - - BBS1_000064 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case29303 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 3 c.24T>C r.(=) p.(=) Unknown - likely pathogenic g.66278154T>C - D8D/R483X - BBS1_000064 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. 3 c.24T>C r.(=) p.(=) Parent #1 - likely pathogenic g.66278154T>C - [p.M390R];[p.N524del] - BBS1_000064 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - English - - - - 1 LOVD
+/. 3 c.39del r.(?) p.(Ala14Profs*61) Both (homozygous) - pathogenic g.66278169del - c.39delA - BBS1_000173 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+/. 3 c.39del r.(?) p.(Ala14Profs*61) Both (homozygous) - pathogenic g.66278169del - c.39delA - BBS1_000173 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - 1 LOVD
+/. 3 c.39del r.(?) p.(Ala14Profs*61) Both (homozygous) - pathogenic g.66278169del - c.[39del - BBS1_000173 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+?/. - c.41C>G r.(?) p.(Ala14Gly) Parent #1 - likely pathogenic g.66278171C>G g.66510700C>G BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.41C>G/p.A14G - BBS1_000229 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1242 PubMed: Weisschuh 2020 Filing key number: 1011, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 1 c.46A>T c.46A>T p.(Ser16Cys) Unknown ACMG likely pathogenic g.66278176A>T g.66510705A>T BBS1 c.46A>T, p.(Ser16Cys) - BBS1_000189 heterozygous PubMed: Manara 2019 - rs772917364 Germline ? - - - - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 10 PubMed: Manara 2019 - M - - - - - - - 1 LOVD
+?/. - c.47G>C r.(?) p.(Ser16Thr) Unknown - likely pathogenic g.66278177G>C - BBS1(NM_024649.5):c.47G>C (p.S16T) - BBS1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.48-9C>A r.(=) p.(=) Unknown - VUS g.66278475C>A g.66511004C>A BBS1(NM_024649.5):c.48-9C>A - BBS1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.48-3C>G r.(?) p.? Both (homozygous) - pathogenic (recessive) g.66278481C>G g.66511010C>G - - BBS1_000166 - PubMed: Ece Solmaz 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat2 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - 1 LOVD
+/. 2i c.48-1G>A r.spl? p.? Both (homozygous) - pathogenic g.66278483G>A - IVS1-1g/a - BBS1_000171 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Turkey - - - - - 1 LOVD
+?/. 2i c.48-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.66278483G>A - c.48-1G>A - BBS1_000171 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 Patient F yes - - - - - - 1 LOVD
-/. - c.57C>G r.(?) p.(Ala19=) Unknown - benign g.66278493C>G g.66511022C>G BBS1(NM_024649.5):c.57C>G (p.A19=) - BBS1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.68G>A r.(?) p.(Trp23*) Unknown - likely pathogenic g.66278504G>A g.66511033G>A c.68G>A/p.(W23*) - BBS1_000185 homozygous PubMed: Alvarez-Satta 2014, PubMed: Castro-Sanchez 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ - described in ��lvarez-Satta M, PMID:2461 retinal disease GBB22 PubMed: Alvarez-Satta 2014, PubMed: Castro-Sanchez 2019 - F - India Asian - - - - 1 LOVD
?/. - c.75T>A r.(?) p.(Asp25Glu) Unknown - VUS g.66278511T>A g.66511040T>A - - BBS1_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs772010847 Germline - 7/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 7 Yoshito Koyanagi
+/. - c.118del r.(?) p.(Cys40Alafs*2) Parent #2 - pathogenic (recessive) g.66278554del g.66511083del - - IGHMBP2_000003 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - - retinal disease RP-2228 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+/. - c.118del r.(?) p.(Cys40Alafs*2) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.118del r.(?) p.(Cys40AlafsTer2) Parent #2 - pathogenic g.66278554del g.66511083del 118delT - IGHMBP2_000003 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 488 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. 3i c.124+1G>A r.spl? p.? Both (homozygous) - pathogenic g.66278561G>A - IVS2+1g/a - BBS1_000172 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Saudi Arabia - - - - - 1 LOVD
+/. 3i c.124+1G>A r.spl? p.? Both (homozygous) - pathogenic g.66278561G>A - IVS2+1g/a - BBS1_000172 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Parent #1 - likely pathogenic g.66278561G>A - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Parent #1 - likely pathogenic g.66278561G>A - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 2 c.124+2T>G r.(?) p.(Asn17Alafs*56) Maternal (confirmed) - likely pathogenic (recessive) g.66278562T>G g.66511091T>G BBS1 c.124+2T>G, p.N17AfsX56 - BBS1_000244 compound heterozygous; exon 2 skipping PubMed: Katagiri 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease KCi001-A PubMed: Katagiri 2020 - F no Japan Japanese - - - - 1 LOVD
-?/. - c.124+17A>G r.(=) p.(=) Unknown - likely benign g.66278577A>G - BBS1(NM_024649.5):c.124+17A>G - BBS1_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.159G>C r.(?) p.(Lys53Asn) Unknown - VUS g.66278710G>C - - - BBS1_000170 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - BBS IR_GH_0051 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.163G>A r.(?) p.(Val55Met) Unknown - VUS g.66281880G>A g.66514409G>A - - BBS1_000097 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs181765153 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
?/. - c.175C>G r.(?) p.(Leu59Val) Unknown - VUS g.66281892C>G - BBS1(NM_024649.5):c.175C>G (p.(Leu59Val)) - BBS1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.217G>T r.(?) p.(Gly73*) Parent #1 - pathogenic g.66281934G>T - c.217G>T - BBS1_000190 - PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010 - - - - white - - - - 1 LOVD
+?/. - c.223_224del r.(?) p.(Leu75Glyfs*23) Parent #2 - likely pathogenic g.66281940_66281941del g.66514469_66514470del 223_224delCT - BBS1_000153 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 599 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. 4 c.223_224del r.(?) p.(Leu75Glyfs*23) Unknown - pathogenic g.66281940_66281941del - c.223_224delCT(h) - BBS1_000153 - PubMed: Janssen-2011 - - Germline - 0.009 - - - DNA SEQ, HD - SEQ or HD retinal disease AR61(A2826)-4 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 4 c.223_224del r.(?) p.(Leu75Glyfs*23) Unknown - pathogenic g.66281940_66281941del - c.223_224delCT(h) - BBS1_000153 - PubMed: Janssen-2011 - - Germline - 0.009 - - - DNA SEQ, HD - SEQ or HD retinal disease AR61(A2826)-5 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - likely benign g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.66281952G>A - BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Pro81=) Unknown - likely benign g.66281960G>A g.66514489G>A BBS1(NM_024649.5):c.243G>A (p.P81=) - BBS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Pro81=) Unknown - likely benign g.66281960G>A - BBS1(NM_024649.5):c.243G>A (p.P81=) - BBS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.316C>G r.(?) p.(Leu106Val) Unknown - benign g.66282033C>G g.66514562C>G BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V) - BBS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316C>G r.(?) p.(Leu106Val) Unknown - likely benign g.66282033C>G g.66514562C>G BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V) - BBS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.320_332dup r.(?) p.(Val112Phefs*9) Both (homozygous) - pathogenic g.66282037_66282049dup - 320-332Dup13pb - BBS1_000191 - PubMed: Muller-2010 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - Lebanese - - - - 2 LOVD
?/. - c.329C>A r.(?) p.(Pro110His) Unknown - VUS g.66282046C>A g.66514575C>A - - BBS1_000098 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs750288768 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. 4 c.329C>A r.(?) p.(Pro110His) Unknown - VUS g.66282046C>A g.66514575C>A C329A - BBS1_000098 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient M no Japan Japanese - - - - 1 Rob W.J. Collin
+?/. - c.329C>A r.(?) p.(Pro110His) Unknown - likely pathogenic g.66282046C>A g.66514575C>A BBS1 c.329C>A, p.Pro110His - BBS1_000098 heterozygous PubMed: Liu 2020 - rs750288768 Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1525 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
-?/. - c.360C>T r.(?) p.(Pro120=) Unknown - likely benign g.66282077C>T g.66514606C>T BBS1(NM_024649.4):c.360C>T (p.P120=) - BBS1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.363C>A r.(?) p.(Tyr121Ter) Unknown - pathogenic g.66282080C>A g.66514609C>A BBS1(NM_024649.5):c.363C>A (p.Y121*) - BBS1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.363C>A r.(?) p.(Tyr121Ter) Unknown - pathogenic g.66282080C>A g.66514609C>A BBS1(NM_024649.5):c.363C>A (p.Y121*) - BBS1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.378G>A r.(=) p.(=) Parent #1 - VUS g.66282095G>A g.66514624G>A - - BBS1_000061 - PubMed: Almomani 2011 {dbSNP:2298806} - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR, MLPA - - HD, OCA1 - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.378G>A r.(?) p.(Leu126=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378G>A r.(?) p.(Leu126=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378G>A r.(?) p.(Leu126=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378G>A r.(?) p.(=) Unknown - benign g.66282095G>A g.66514624G>A - - BBS1_000061 - PubMed: Smaoui 2006 - rs2298806 Germline - 6/19 families BBS - - - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
+?/. 7 c.382C>T r.(?) p.(Gln128*) Both (homozygous) - likely pathogenic g.66282099C>T - c.382C>T - BBS1_000192 - PubMed: Muller-2010, Beales 2003 - - Germline - - - - - DNA ? blood ASPER microarray retinal disease - PubMed: Muller-2010, Beales 2003 - - - - white - - - - 1 LOVD
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