Full data view for gene BBS5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_152384.2 transcript reference sequence.

198 entries on 2 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.-40= r.(?) p.(=) Unknown - benign g.170336024= g.169479514= NM_152384:c.1-40C>G - BBS5_000072 - PubMed: Smaoui 2006 - rs1879466 Germline - 3/19 families BBS - - - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
-/. - c.-40G>C r.(?) p.(=) Unknown - benign g.170336024G>C g.169479514G>C - - BBS5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1_12_ c.-118_*2073{2} r.? p.? Parent #1 - VUS g.(?_170336059)_(170361097_?)dup - chr2:170336059–170361097 - BBS5_000065 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15007281 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.619–1G>C - SNRNP200_000007 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - BBS5:p.[N184S];[=] - SNRNP200_000007 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.N184S] - SNRNP200_000007 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 - VUS g.? - [p.A242S] - SNRNP200_000007 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Irish - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.I389I] - SNRNP200_000007 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Turkish - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.T501T] - SNRNP200_000007 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Turkish - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? g.? BBS5 263-271 indelGCTCTTA - SNRNP200_000007 no real nucleotide or protein annotation available, numbering system defining its location was not specified; homozygous PubMed: Li 2004 RCV000006534.4 - Germline yes - - - - DNA SEQ - - BBS PB108_03 PubMed: Li 2004 family PB108 proband M yes - - - - - - 1 LOVD
?/. - c.? r.? p.? Both (homozygous) ACMG VUS g.170343574_170343578insN[(400_500)] - - - SNRNP200_000007 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? BBS-43 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.1A>T r.? p.? Both (homozygous) - pathogenic g.170336064A>T - c.1A>T - BBS5_000055 - PubMed: Muller-2010 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - North Africa - - - - 2 LOVD
?/. 1 c.1A>Y r.? p.? Both (homozygous) - VUS g.170336064A>T - p.M1L - BBS5_000055 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy, Syrian parents (2nd degree of consanguinity) and has a similarly affected older brother M yes - - - - - - 1 LOVD
+?/. - c.2T>A r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.170336065T>A g.169479555T>A - - BBS5_000047 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12010090 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 1 c.2T>A r.? p.? Both (homozygous) - pathogenic g.170336065T>A - 2T/A (M1K) - BBS5_000047 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Pakistan - - - - - 1 LOVD
+/. 1 c.2T>A r.? p.? Both (homozygous) - pathogenic g.170336065T>A - 2T/A (M1K) - BBS5_000047 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Pakistan - - - - - 1 LOVD
+?/. - c.2T>A r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.170336065T>A g.169479555T>A BBS5;NM_152384.2;;c.[2T>A];[2T>A];p.[(Met1?)];[(Met1?)]; - BBS5_000047 homozygous PubMed: Jiman 2020 - - Germline yes - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 38 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.2T>A r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.170336065T>A g.169479555T>A BBS5;NM_152384.2;;c.[2T>A];[2T>A];p.[(Met1?)];[(Met1?)]; - BBS5_000047 homozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 39 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.170336065T>C g.169479555T>C - - BBS5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25G>A r.(?) p.(Glu9Lys) Unknown - VUS g.170336088G>A g.169479578G>A BBS5(NM_152384.3):c.25G>A (p.(Glu9Lys)) - BBS5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25G>A r.(?) p.(Glu9Lys) Unknown - VUS g.170336088G>A - BBS5(NM_152384.3):c.25G>A (p.(Glu9Lys)) - BBS5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.54dup r.(?) p.(Ala19Argfs*14) Unknown - likely pathogenic g.170336117dup - c.54dupC - BBS5_000058 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
-/. - c.60-176dup r.(=) p.(=) Unknown - benign g.170338585dup g.169482075dup BBS5(NM_152384.3):c.60-176dupA - BBS5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60-3T>C r.spl? p.? Unknown - likely benign g.170338758T>C g.169482248T>C BBS5(NM_152384.2):c.60-3T>C, BBS5(NM_152384.3):c.60-3T>C - BBS5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60-3T>C r.spl? p.? Unknown - likely benign g.170338758T>C - BBS5(NM_152384.2):c.60-3T>C, BBS5(NM_152384.3):c.60-3T>C - BBS5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92T>C r.(?) p.(Ile31Thr) Unknown - VUS g.170338793T>C g.169482283T>C BBS5(NM_152384.3):c.92T>C (p.(Ile31Thr)) - BBS5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92T>C r.(?) p.(Ile31Thr) Unknown - VUS g.170338793T>C g.169482283T>C BBS5(NM_152384.3):c.92T>C (p.(Ile31Thr)) - BBS5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108C>T r.(?) p.(Ser36=) Unknown - benign g.170338809C>T g.169482299C>T BBS5(NM_152384.2):c.108C>T (p.S36=) - BBS5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.123del r.(?) p.(Gly42GlufsTer11) Unknown - pathogenic g.170338824del g.169482314del BBS5(NM_152384.3):c.123delA (p.G42Efs*11) - BBS5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.123del r.(?) p.(Gly42Glufs*11) Both (homozygous) - pathogenic g.170338824del - c.123delA - BBS5_000006 - PubMed: Muller-2010 - - Germline - - - - - DNA DHPLC, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - Algeria - - - - 5 LOVD
+?/. - c.123del r.(?) p.(Gly42Glufs*11) Both (homozygous) - likely pathogenic g.170338824del g.169482314del BBS5 c.[123delA];[123delA], p.[G42Efs*11];[ G42Efs*11] - BBS5_000006 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F23_II.1 PubMed: Habibi 2020 Family F23, patient II.1 M - Tunisia - - - - - 1 LOVD
+/. 2 c.123del r.(?) p.(Gly42Glufs*11) Parent #1 - pathogenic (recessive) g.170338824del - c.[123del];[123del] - BBS5_000006 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Autopsy: term at birth F - France - - - - - 1 LOVD
+/. 2 c.123del r.(?) p.(Gly42Glufs*11) Parent #2 - pathogenic (recessive) g.170338824del - c.[123del];[123del] - BBS5_000006 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Autopsy: term at birth F - France - - - - - 1 LOVD
+/. - c.123del r.(?) p.(Gly42Glufs*11) Both (homozygous) - pathogenic (recessive) g.170338824del g.169482314del 123delA - BBS5_000006 - PubMed: Smaoui 2006 - - Germline - - - - - DNA SEQ - - BBS Fam57011 PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.123del r.(?) p.(Gly42GlufsTer11) Unknown - pathogenic g.170338824del - BBS5(NM_152384.3):c.123delA (p.G42Efs*11) - BBS5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.132T>G r.(?) p.(Asn44Lys) Unknown - VUS g.170338833T>G - c.132T>G - BBS5_000059 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - 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
?/. - c.142G>A r.(?) p.(Gly48Ser) Unknown - VUS g.170338843G>A - BBS5(NM_152384.2):c.142G>A (p.G48S) - BBS5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.142+160C>A r.(?) p.(=) Unknown - benign g.170339003C>A g.169482493C>A - - BBS5_000073 - PubMed: Smaoui 2006 - rs2353187 Germline - 2/19 families BBS - - - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
+?/. - c.143-4_143-3ins440bp r.spl? p.(?) Parent #1 - likely pathogenic g.? g.? BBS5, variant 1: c.143-4_143-3ins440bp/p.?, variant 2: c.143-4_143-3ins440bp/p.? - SNRNP200_000007 inserted nucleotides not given in the publication, possibly solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 124 PubMed: Weisschuh 2020 Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.143-4_143-3ins440bp r.spl? p.(?) Parent #1 - likely pathogenic g.? g.? BBS5, variant 1: c.143-4_143-3ins440bp/p.?, variant 2: c.143-4_143-3ins440bp/p.? - SNRNP200_000007 inserted nucleotides not given in the publication, possibly solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 125 PubMed: Weisschuh 2020 Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.143-1G>A r.(?) p.? Paternal (confirmed) - pathogenic g.170343578G>A g.169487068G>A BBS5 c.143-1 G > A (splice acceptor) - BBS5_000078 heterozygous PubMed: Torrefranca 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing BBS sibling 1 PubMed: Torrefranca 2020 - F - - - - - - - 1 LOVD
+/. - c.143-1G>A r.(?) p.? Paternal (confirmed) - pathogenic g.170343578G>A g.169487068G>A BBS5 c.143-1 G > A (splice acceptor) - BBS5_000078 heterozygous PubMed: Torrefranca 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing BBS sibling 2 PubMed: Torrefranca 2020 - F - - - - - - - 1 LOVD
+?/. - c.143-1G>C r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.170343578G>C g.169487068G>C BBS5, c.143-1G>C, p.?, homozygous - BBS5_000066 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing retinal disease RP-1666 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. - c.143-1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.170343578G>C g.169487068G>C - - BBS5_000066 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-569727 rs1054138918 Germline yes - - - - DNA SEQ-NG-I Buccal swab - BBS5 2487444 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F yes Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+?/? 3 c.148C>A r.(?) p.(Leu50Ile) Unknown - VUS g.170343584C>A g.169487074C>A - - BBS5_000001 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 3 c.148C>A r.(?) p.(Leu50Ile) Both (homozygous) - pathogenic g.170343584C>A - c.148C>A - BBS5_000001 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 3 c.149T>G r.(?) p.(Leu50Arg) Both (homozygous) - pathogenic g.170343585T>G - c.149T >G - BBS5_000051 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+/. 3 c.149T>G r.(?) p.(Leu50Arg) Both (homozygous) - pathogenic g.170343585T>G - c.149T>G - BBS5_000051 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Tunisian - - - - 1 LOVD
+/. 3 c.149T>G r.(?) p.(Leu50Arg) Both (homozygous) - pathogenic g.170343585T>G - c.[149T>G];[149T>G] - BBS5_000051 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+/. 3 c.149T>G r.(?) p.(Leu50Arg) Both (homozygous) - pathogenic (recessive) g.170343585T>G - c.149T>G - BBS5_000051 - PubMed: M'hamdi-2014 - - Germline - - - - - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+?/. 3 c.158C>T r.(?) p.(Thr53Ile) Both (homozygous) - likely pathogenic g.170343594C>T - c.158C>T p.(T53I) - BBS5_000060 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - - - - 1 LOVD
+/. 3 c.166A>G r.(?) p.(Arg56Gly) Both (homozygous) - pathogenic g.170343602A>G - c.166A>G - BBS5_000056 - PubMed: Muller-2010 - - Germline - - - - - DNA arraySNP, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - North Africa - - - - 2 LOVD
+/. 3 c.166A>G r.(?) p.(Arg56Gly) Parent #1 - pathogenic (recessive) g.170343602A>G - c.[166A>G];[166A>G] - BBS5_000056 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 17 gestation weeks F - France - - - - - 1 LOVD
+/. 3 c.166A>G r.(?) p.(Arg56Gly) Parent #2 - pathogenic (recessive) g.170343602A>G - c.[166A>G];[166A>G] - BBS5_000056 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 17 gestation weeks F - France - - - - - 1 LOVD
+?/. - c.177G>A r.(?) p.(Trp59Ter) Both (homozygous) - likely pathogenic g.170343613G>A g.169487103G>A BBS5 W59X - BBS5_000067 homozygous PubMed: Li 2004 - - Germline yes - - - - DNA SEQ - - BBS PB127_03 PubMed: Li 2004 family PB127 proband M no - - - - - - 1 LOVD
?/. - c.178C>T r.(?) p.(His60Tyr) Unknown - VUS g.170343614C>T g.169487104C>T BBS5(NM_152384.2):c.178C>T (p.H60Y) - BBS5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185T>C r.(?) p.(Leu62Ser) Unknown - VUS g.170343621T>C - BBS5(NM_152384.2):c.185T>C (p.L62S) - BBS5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196del r.(?) p.(Arg66Glufs*12) Both (homozygous) - likely pathogenic g.170343632del g.169487122del c.196delA;, p.(Arg66Glufs*12) - BBS5_000057 - PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 1_IV-1 PubMed: Khan 2019 Family 1, individual IV-1 M yes Pakistan - - - - - 2 LOVD
+?/. - c.196del r.(?) p.(Arg66Glufs*12) Both (homozygous) - likely pathogenic g.170343632del g.169487122del c.196delA;, p.(Arg66Glufs*12) - BBS5_000057 - PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - retinal disease 1_IV-4 PubMed: Khan 2019 Family 1, individual IV-4 F yes Pakistan - - - - - 1 LOVD
+?/. 12 c.208+2T>C r.(?) p.? Both (homozygous) - likely pathogenic g.170343646T>C g.169487136T>C BBS5 c.208+2T>C - BBS5_000068 homozygous PubMed: Imani 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted exome sequencing BBS II:2 PubMed: Imani 2019 proband M - Iran Iranian - - - - 1 LOVD
+?/. 12 c.208+2T>C r.(?) p.? Both (homozygous) - likely pathogenic g.170343646T>C g.169487136T>C BBS5 c.208+2T>C - BBS5_000068 homozygous PubMed: Imani 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted exome sequencing BBS II:1 PubMed: Imani 2019 proband's older sister F - Iran Iranian - - - - 1 LOVD
+/. - c.209-2A>G r.spl? p.? Unknown - pathogenic g.170344314A>G g.169487804A>G BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G - BBS5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.209-2A>G r.spl? p.? Unknown - pathogenic g.170344314A>G g.169487804A>G BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G - BBS5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.209-2A>G r.spl? p.? Unknown - likely pathogenic g.170344314A>G - BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G - BBS5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.209-2A>G r.spl p.? Unknown - pathogenic g.170344314A>G g.169487804A>G - - BBS5_000007 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5305 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.209-2A>G r.spl p.? Unknown - pathogenic g.170344314A>G g.169487804A>G - - BBS5_000007 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 5159 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.209-2A>G r.spl p.? Unknown - pathogenic g.170344314A>G g.169487804A>G - - BBS5_000007 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5305 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. - c.209-2A>G r.spl? p.? Unknown - likely pathogenic g.170344314A>G - BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G - BBS5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.209-2A>G r.spl? p.? Unknown - likely pathogenic g.170344314A>G - BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G - BBS5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214G>A r.(?) p.(Gly72Ser) Unknown - pathogenic g.170344321G>A g.169487811G>A BBS5(NM_152384.3):c.214G>A (p.G72S) - BBS5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.214G>A r.(?) p.(Gly72Ser) Unknown ACMG likely pathogenic g.170344321G>A g.169487811G>A BBS5 c.214G>A, p.(Gly72Ser), c.214G>A, p.(Gly72Ser), RP1 c.6171_6174del, p.(Thr2058Metfs*14) - BBS5_000008 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 47 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 4 c.214G>A r.(?) p.(Gly72Ser) Parent #2 - likely pathogenic g.170344321G>A - [p.C91LfsX5];[p.H410Q] - BBS5_000008 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - British - - - - 1 LOVD
+/. 4 c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - pathogenic g.170344321G>A - c.214G>A(H) - BBS5_000008 - PubMed: Janssen-2011 - - Germline - 0.019 - - - DNA SEQ, HD - SEQ or HD retinal disease A2507 PubMed: Janssen-2011 - - - Somalia - - - - - 1 LOVD
+?/. - c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - likely pathogenic g.170344321G>A g.169487811G>A BBS5 c.[214G > A];[214G > A], p.[G72S];[G72S] - BBS5_000008 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F22_II.2 PubMed: Habibi 2020 Family F22, patient II.2 M - Tunisia - - - - - 1 LOVD
+/. 4 c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - pathogenic g.170344321G>A g.169487811G>A BBS5 c.214G>A, p.Gly72Ser - BBS5_000008 homozygous PubMed: Hjortshoj 2008 - - Germline yes 0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria) - - - DNA DHPLC, arraySNP, SEQ - previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative BBS sibling 1 PubMed: Hjortshoj 2008 family 1, sibling 1 ? - Somalia - - - - - 1 LOVD
+/. 4 c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - pathogenic g.170344321G>A g.169487811G>A BBS5 c.214G>A, p.Gly72Ser - BBS5_000008 homozygous PubMed: Hjortshoj 2008 - - Germline yes 0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria) - - - DNA DHPLC, arraySNP, SEQ - previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative BBS sibling 2 PubMed: Hjortshoj 2008 family 1, sibling 2 ? - Somalia - - - - - 1 LOVD
+/. 4 c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - pathogenic g.170344321G>A g.169487811G>A BBS5 c.214G>A, p.Gly72Ser - BBS5_000008 homozygous PubMed: Hjortshoj 2008 - - Germline yes 0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria) - - - DNA DHPLC, arraySNP, SEQ - previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative BBS sibling 3 PubMed: Hjortshoj 2008 family 1, sibling 3 ? - Somalia - - - - - 1 LOVD
+/. 4 c.214G>A r.(?) p.(Gly72Ser) Both (homozygous) - pathogenic g.170344321G>A g.169487811G>A BBS5 c.214G>A, p.Gly72Ser - BBS5_000008 homozygous PubMed: Hjortshoj 2008 - - Germline yes 0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria) - - - DNA DHPLC, arraySNP, SEQ - previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative BBS sibling 4 PubMed: Hjortshoj 2008 family 1, sibling 4 ? - Somalia - - - - - 1 LOVD
+/. - c.219C>G r.(?) p.(Tyr73*) Unknown - pathogenic g.170344326C>G - BBS5(NM_152384.3):c.219C>G (p.Y73*) - BBS5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226A>G r.(?) p.(Ile76Val) Unknown - VUS g.170344333A>G - BBS5(NM_152384.2):c.226A>G (p.I76V) - BBS5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.170344367T>C g.169487857T>C - - BBS5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl p.? Unknown - pathogenic g.170344367T>C g.169487857T>C - - BBS5_000022 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 5159 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
-?/. - c.259-3C>T r.spl? p.? Unknown - likely benign g.170344494C>T g.169487984C>T BBS5(NM_152384.2):c.259-3C>T - BBS5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265C>T r.(?) p.(Arg89Ter) Unknown - pathogenic g.170344503C>T g.169487993C>T BBS5(NM_152384.3):c.265C>T (p.R89*) - BBS5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.265C>T r.(?) p.(Arg89*) Unknown - likely benign g.170344503C>T - p.R89X (c.C265T) - BBS5_000010 - PubMed: Hirano 2015 - - Germline - - - - - DNA, RNA SEQ, PCR blood - retinal disease - PubMed: Hirano 2015 novel M no Japan Japanese - - - - 1 LOVD
+/. 5 c.265C>T r.(?) p.(Arg89*) Unknown - pathogenic g.170344503C>T - p.R89X (c.C265T) - BBS5_000010 - PubMed: Hirano 2015 - - Germline - - - - - DNA, RNA SEQ, PCR blood - retinal disease - PubMed: Hirano 2015 novel M no Japan Japanese - - - - 1 LOVD
+?/. - c.265C>T r.(?) p.(Arg89*) Parent #1 - likely pathogenic g.170344503C>T g.169487993C>T BBS5 p.R89X, IVS7-27T > G - BBS5_000010 no c. position written in publication, probable position given - RCV001548296.2 PubMed: Hirano 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease 3 PubMed: Hirano 2020 - M no Japan - - - - - 1 LOVD
+?/. - c.265C>T r.(?) p.(Arg89*) Parent #1 - likely pathogenic g.170344503C>T g.169487993C>T BBS5 p.R89X, IVS7-27T > G - BBS5_000010 no c. position written in publication, probable position given - RCV001548296.2 PubMed: Hirano 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease 4 PubMed: Hirano 2020 - M no Japan - - - - - 1 LOVD
-/. - c.285C>T r.(?) p.(Leu95=) Unknown - benign g.170344523C>T - BBS5(NM_152384.3):c.285C>T (p.L95=) - BBS5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.308G>A r.(?) p.(Ser103Asn) Unknown - benign g.170344546G>A g.169488036G>A BBS5(NM_152384.3):c.308G>A (p.S103N) - BBS5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365C>T r.(?) p.(Thr122Ile) Unknown - VUS g.170344603C>T - BBS5(NM_152384.3):c.365C>T (p.(Thr122Ile)) - BBS5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.387-618del232 r.(?) p.? Parent #2 - likely pathogenic g.170348766del232 - [p.C91LfsX5];[p.Y469X] - BBS5_000061 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel F - - French-Canadian - - - - 1 LOVD
-/. - c.387-15_387-12del r.(=) p.(=) Unknown - benign g.170349369_170349372del g.169492859_169492862del BBS5(NM_152384.3):c.387-15_387-12delTGTT - BBS5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387-15_387-12del r.(=) p.(=) Unknown - likely benign g.170349369_170349372del - BBS5(NM_152384.3):c.387-15_387-12delTGTT - BBS5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387-4A>G r.spl? p.? Unknown - likely benign g.170349380A>G g.169492870A>G BBS5(NM_152384.2):c.387-4A>G, BBS5(NM_152384.3):c.387-4A>G - BBS5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387-4A>G r.spl? p.? Unknown - likely benign g.170349380A>G - BBS5(NM_152384.2):c.387-4A>G, BBS5(NM_152384.3):c.387-4A>G - BBS5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412C>T r.(?) p.(Arg138Cys) Maternal (confirmed) - likely pathogenic g.170349409C>T g.169492899C>T g.788C>T - BBS5_000028 - - - - Germline - - - - - DNA SEQ-NG - - BBS - - - M no Spain - - - - - 1 Sheila Castro-Sánchez
+?/. - c.412C>T r.(?) p.(Arg138Cys) Unknown - likely pathogenic g.170349409C>T - 2:170349409C>T ENST00000295240.3:c.412C>T (Arg138Cys) - BBS5_000028 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001045 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.412C>T r.(?) p.(Arg138Cys) Maternal (confirmed) - likely pathogenic g.170349409C>T g.169492899C>T c.412C>T/p.(R138C) - BBS5_000028 compound heterozygous PubMed: Castro-Sanchez 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES retinal disease RTP23 PubMed: Castro-Sanchez 2019 - M - Spain white - - - - 1 LOVD
+?/. - c.412C>T r.(?) p.(Arg138Cys) Unknown - likely pathogenic g.170349409C>T g.169492899C>T BBS5 c.412C>T, p.Arg138Cys - BBS5_000028 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001045 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
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