Full data view for gene BBS7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176824.2 transcript reference sequence.

175 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.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Caucasian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - 0 - - 1 LOVD
?/. 1 c.-1503delC r.(?) p.? Unknown - VUS g.122792971delG - BBS7: c.-1503delC - BBS7_000068 - PubMed: M'hamdi-2014 - - Germline - - - 0 - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.122792971delG - c.-1503delC - BBS7_000068 - PubMed: Mhamdi_2013 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: Mhamdi_2013 - M yes Tunisia Tunisian - 0 - - 1 LOVD
-/. - c.-133C>G r.(?) p.(=) Unknown - benign g.122791601G>C g.121870446G>C - - BBS7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.14T>A r.(?) p.(Leu5*) Paternal (confirmed) - pathogenic g.122791455A>T g.121870300A>T - - BBS7_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.36+20C>T r.spl p.? Unknown - VUS g.122791413G>A g.121870258G>A - - BBS7_000062 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case24058 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - 1 LOVD
+/. - c.37del r.(?) p.(Val13TrpfsTer3) Unknown - pathogenic g.122789202del g.121868047del BBS7(NM_176824.2):c.37delG (p.V13Wfs*3) - BBS7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.87_88del r.(?) p.(His29Glnfs*12) Unknown ACMG pathogenic g.122789150_122789151del - c.87_88delCA - BBS7_000055 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.87_88del r.(?) p.(His29GlnfsTer12) Both (homozygous) - pathogenic g.122789153_122789154del g.121867998_121867999del c.87_88delCA - BBS7_000055 - PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS 44/311 PubMed: Lindstrand 2016 - M no United States - - 0 - - 1 LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) Both (homozygous) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/3 PubMed: Lindstrand-2014 - M - Israel Israeli - 0 - - 1 LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) Both (homozygous) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/4 PubMed: Lindstrand-2014 - F - Israel Israeli - 0 - - 1 LOVD
-?/. - c.166-5T>C r.spl? p.? Unknown - likely benign g.122782839A>G g.121861684A>G BBS7(NM_176824.3):c.166-5T>C - BBS7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Val57=) Unknown - likely benign g.122782829C>T g.121861674C>T BBS7(NM_176824.2):c.171G>A (p.V57=) - BBS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.171G>A r.(=) p.(=) Both (homozygous) - VUS g.122782829C>T - *p.[V57V]+[=] - BBS7_000018 - PubMed: Bin-2009 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - - - - Russian - 0 - - 1 LOVD
+?/. 4 c.171G>A r.(=) p.(=) Parent #1 - likely pathogenic g.122782829C>T - [p.T501M];[p.R525H - BBS7_000018 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - Ghanian - 0 - - 1 LOVD
-/. - c.186C>T r.(?) p.(Pro62=) Unknown - benign g.122782814G>A g.121861659G>A BBS7(NM_176824.2):c.186C>T (p.P62=) - BBS7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.186C>T r.(?) p.(Pro62=) Unknown - benign g.122782814G>A g.121861659G>A BBS7(NM_176824.2):c.186C>T (p.P62=) - BBS7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.187G>A r.(?) p.(Gly63Arg) Unknown - likely pathogenic g.122782813C>T - p.[G63R]+ - BBS7_000080 - PubMed: Bin-2009 - - Germline yes - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - F - - Italian - 0 - - 1 LOVD
+?/. 4 c.187G>A r.(?) p.(Gly63Arg) Unknown - likely pathogenic g.122782813C>T - p.[G63R]+ - BBS7_000080 - PubMed: Bin-2009 - - Germline yes - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - M - - Italian - 0 - - 1 LOVD
+/. 4 c.? r.(?) p.? Both (homozygous) - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - 0 - - 1 LOVD
+/. 4 c.? r.(?) p.? Both (homozygous) - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - 0 - - 1 LOVD
+/. 4 c.196A>T r.(?) p.(Ile66Phe) Unknown - pathogenic g.122782804T>A - c.196A>T - BBS7_000072 - PubMed: Hichri-2005 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France Caucasian - 0 - - 1 LOVD
+/. - c.198T>G r.(?) p.(Ile66Met) Parent #2 - pathogenic (recessive) g.122782802A>C g.121861647A>C - - BBS7_000066 - PubMed: Consugar 2015 - - Germline yes - - 0 - DNA SEQ-NG - 238-gene panel retinal disease OGI-454-958 PubMed: Consugar 2015 - - - United States - - 0 - - 1 LOVD
+?/. 4 c.198T>G r.(?) p.(Ile66Met) Both (homozygous) - likely pathogenic g.122782802A>C - c.198T>G - BBS7_000066 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
?/. - c.218G>T r.(?) p.(Gly73Val) Unknown - VUS g.122782782C>A g.121861627C>A BBS7(NM_176824.2):c.218G>T (p.G73V) - BBS7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.241A>G r.(?) p.(Lys81Glu) Unknown - VUS g.122782759T>C g.121861604T>C BBS7(NM_176824.2):c.241A>G (p.K81E) - BBS7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.280A>T r.(?) p.(Thr94Ser) Unknown - VUS g.122782720T>A g.121861565T>A - - BBS7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Thr94Ile) Unknown - VUS g.122782719G>A g.121861564G>A BBS7(NM_176824.3):c.281C>T (p.T94I) - BBS7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.288_289del r.(?) p.(Gly97Lysfs*7) Unknown ACMG pathogenic g.122782713_122782714del g.121861558_121861559del NM_176824.2:c.288_289del, NP_789794.1:p.(Gly97LysfsTer7), NC_000004.11:g.122782713_122782714del - BBS7_000070 - PubMed: Wang 2018 - - Germline ? - - 0 - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082404 PubMed: Wang 2018 - M ? China Han Chinese - 0 - - 1 LOVD
+/. - c.288_289delAG r.(?) p.(Gly97Lysfs*7) Maternal (confirmed) ACMG pathogenic (recessive) g.122782713_122782714del g.121861558_121861559del c.288_289delAG, p.G97Kfs*7 - BBS7_000070 Compound heterozygous PubMed: Tao 2020 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes retinal disease P01 PubMed: Tao 2020 - M - China - - 0 - - 1 LOVD
?/. - c.300C>G r.(?) p.(Phe100Leu) Unknown - VUS g.122782700G>C g.121861545G>C BBS7(NM_176824.2):c.300C>G (p.F100L) - BBS7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.340A>G r.(?) p.(Met114Val) Unknown - likely pathogenic g.122782660T>C - c.340A>G - BBS7_000079 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - 0 - DNA DHPLC, SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - North Africa - 0 - - 3 LOVD
+/. - c.389_390del r.(?) p.(Asn130Thrfs*4) Parent #1 - pathogenic g.122780285_122780286del g.121859130_121859131del - - BBS7_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224530 Germline - 1/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 5 c.389_390del r.(?) p.(Asn130Thrfs*4) Parent #1 - pathogenic (recessive) g.122780285_122780286del - c.[389_390del];[389_390del] - BBS7_000051 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 29 gestation weeks M - France - - 0 - - 1 LOVD
+/. 5 c.389_390del r.(?) p.(Asn130Thrfs*4) Parent #2 - pathogenic (recessive) g.122780285_122780286del - c.[389_390del];[389_390del] - BBS7_000051 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 29 gestation weeks M - France - - 0 - - 1 LOVD
?/. - c.416A>T r.(?) p.(His139Leu) Unknown - VUS g.122780259T>A g.121859104T>A BBS7(NM_018190.3):c.416A>T (p.(His139Leu)) - BBS7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.442A>C r.(?) p.(Asn148His) Maternal (confirmed) - VUS g.122780233T>G g.121859078T>G - - BBS7_000060 - PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR888-0311 PubMed: Lindstrand 2016 - M no United States - - 0 - - 1 LOVD
+?/. - c.500_501insTATGAG r.(?) p.(Cys167_Gln168insMetSer) Both (homozygous) - likely pathogenic (recessive) g.122780175_122780176insTCATAC g.121859020_121859021insTCATAC - - BBS7_000057 - PubMed: Taylor 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 15021050 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/. 5i c.528+1G>A r.spl? p.? Parent #1 - pathogenic g.122780146C>T - c.528+1G>A - BBS7_000078 - PubMed: Muller-2010 - - Germline - - - 0 - DNA DHPLC, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - Caucasian - 0 - - 1 LOVD
?/. 5i c.529-99T>A r.(=) p.(=) Unknown - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
?/. 5i c.529-99T>A r.(=) p.(=) Unknown - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
?/. 5i c.529-99T>A r.(=) p.(=) Unknown - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - 0 - - 1 LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) Both (homozygous) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease A:IV-3 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) Both (homozygous) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease A:IV-4 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) Both (homozygous) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease A:IV-5 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+?/. - c.598G>T r.(?) p.(Gly200Cys) Unknown - likely pathogenic g.122776647C>A g.121855492C>A - - BBS7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6i c.601+2 T>C r.spl? p.? Unknown - likely pathogenic g.122776642A>G - [G201_D202ins15or16]** - BBS7_000077 - PubMed: Bin-2009 - - Germline yes - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - F - - Italian - 0 - - 1 LOVD
+?/. 6i c.601+2 T>C r.spl? p.? Unknown - likely pathogenic g.122776642A>G - [G201_D202ins15or16]** - BBS7_000077 - PubMed: Bin-2009 - - Germline yes - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - M - - Italian - 0 - - 1 LOVD
+?/. 6i c.IVS6+2T>C r.spl? p.? Parent #2 - likely pathogenic g.122776642A>G - [p.Q293E];[p.F372XfsX1] - BBS7_000077 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Caucasian - 0 - - 1 LOVD
+?/. 6i c.IVS6+2T>C r.spl? p.? Both (homozygous) - likely pathogenic g.122776642A>G - M390R/M390R - BBS7_000077 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - 0 - - 1 LOVD
+?/. - c.602-2A>T r.spl p.? Unknown - likely pathogenic g.122775977T>A g.121854822T>A - - BBS7_000064 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 09DG00644 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.602-2A>T r.spl p.? Unknown - likely pathogenic g.122775977T>A g.121854822T>A - - BBS7_000064 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 09DG01063 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+?/. 6i c.602-2A>T r.spl? p.? Both (homozygous) - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+?/. 6i c.602-2A>T r.spl? p.? Both (homozygous) - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+?/. 6i c.602-2A>T r.spl? p.? Both (homozygous) - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) Both (homozygous) - likely pathogenic g.122775945G>A - T211I - BBS7_000076 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Eichers-2009, Katsanis 2001 - - - - - - 0 - - 1 LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) Both (homozygous) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Caucasian - 0 - - 1 LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) Both (homozygous) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Caucasian - 0 - - 1 LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) Both (homozygous) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Caucasian - 0 - - 1 LOVD
-?/. - c.639C>T r.(?) p.(Asp213=) Unknown - likely benign g.122775938G>A g.121854783G>A BBS7(NM_176824.2):c.639C>T (p.D213=) - BBS7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) Unknown - likely pathogenic g.122775937C>T - c.640G>A - BBS7_000086 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+/. 7 c.688T>C r.(?) p.(Trp230Arg) Both (homozygous) - pathogenic g.122775889A>G - 688T/C (W320R) - BBS7_000067 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Turkey - - 0 - - 1 LOVD
+?/. 7 c.710_713delAGAG r.(?) p.(Arg238Glufs*59) Both (homozygous) - unclassified g.122775864_122775867delCTCT - c.710_713delAGAG - BBS7_000085 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Caucasian - 0 - - 1 LOVD
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) Unknown - pathogenic g.122775864_122775867del g.121854709_121854712del - - BBS7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) Both (homozygous) - pathogenic (recessive) g.122775864_122775867del g.121854709_121854712del 712_715delAGAG - BBS7_000024 - PubMed: Ece Solmaz 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat9 PubMed: Ece Solmaz 2015 patient - - Turkey - - 0 - - 1 LOVD
+/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) Both (homozygous) - pathogenic g.122775862_122775865del - 711_714delGAGA (R238fsX296) - BBS7_000024 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Turkey - - 0 - - 1 LOVD
+?/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) Unknown - likely pathogenic g.122775862_122775865del - p.[R238EfsX59]+ - BBS7_000024 - PubMed: Bin-2009 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - F - - Peruvian - 0 - - 1 LOVD
+?/. - c.712_715del r.(?) p.(Arg238Glufs*59) Parent #1 - likely pathogenic g.122775864_122775867del g.121854709_121854712del BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R - BBS7_000024 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 100 PubMed: Weisschuh 2020 Filing key number: 47, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) Unknown - pathogenic g.122774232C>T - c.728G>A - BBS7_000071 - PubMed: Wang-2013 - - Unknown - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 patient carry homozygous novel missense mutation in other retinal disease genes. BBS - no - - - 0 - - 1 Julia Lopez
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 Father M yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 Patient (mother) F yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - F yes - - - 0 - - 1 LOVD
+/. 8 c.728G>A r.(?) p.Cys243Tyr Both (homozygous) - pathogenic g.122774232C>T - p.C243Y - BBS7_000071 - PubMed: Hirano 2015 - - Germline - - - 0 - DNA, RNA SEQ, PCR blood - retinal disease - PubMed: Hirano 2015 - F no Japan Japanese - 0 - - 1 LOVD
+?/. - c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T g.121853077C>T BBS7 p.C243Y, homo - BBS7_000071 no c. position written in publication, probable position given - RCV001384254.1 PubMed: Hirano 2020 - - Germline ? - - 0 - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease 5 PubMed: Hirano 2020 - F no Japan - - 0 - - 1 LOVD
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) Paternal (confirmed) ACMG pathogenic g.122774232C>T g.121853077C>T BBS7 c.728G > A, p.C243Y - BBS7_000071 heterozygous PubMed: Meng 2021 - rs727503821 Germline yes - - 0 - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F8-II:1 PubMed: Meng 2021 - F no China - - 0 - - 1 LOVD
+/. 8 c.763A>T c.763A>T p.(Lys255*) Both (homozygous) ACMG pathogenic g.122774197T>A g.121853042T>A BBS7 c.763A>T, p.(Lys255*) - BBS7_000075 homozygous PubMed: Manara 2019 - - Germline yes - - 0 - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 3 PubMed: Manara 2019 - M - - - - 0 - - 1 LOVD
+?/. - c.790G>A r.(?) p.(Gly264Arg) Parent #1 - likely pathogenic g.122774170C>T g.121853015C>T BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R - BBS7_000092 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 100 PubMed: Weisschuh 2020 Filing key number: 47, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
?/. - c.799G>A r.(?) p.(Glu267Lys) Unknown - VUS g.122774161C>T g.121853006C>T BBS7(NM_176824.2):c.799G>A (p.E267K) - BBS7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8 c.838C>T r.(?) p.(Arg280*) Unknown - likely pathogenic g.122774122G>A - c.838C>T - BBS7_000084 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+/. - c.849+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.122774110C>A g.121852955C>A g.17543G>T - BBS7_000049 - - - - Germline - - - 0 - DNA SEQ-NG-I Blood WES and Sanger BBS7 - - - M yes Turkey - 05y 0 - - 1 Evren Gümüş
+?/. - c.849+1G>T r.spl p.(?) Both (homozygous) - likely pathogenic g.122774110C>A g.121852955C>A BBS7* (NM_176824) (LOVD#0000638713), c.849+1G > T, Splice site - BBS7_000049 homozygous PubMed: Gumus 2021 - - Germline ? - - 0 - DNA SEQ-NG-I blood whole exome sequencing retinal disease 4 PubMed: Gumus 2021 - M - Turkey - - 0 - - 1 LOVD
+/. - c.878A>C r.(?) p.(Gln293Pro) Maternal (confirmed) - pathogenic g.122770055T>G g.121848900T>G - - BBS7_000059 - PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR634-03 PubMed: Lindstrand 2016 - F no United States - - 0 - - 1 LOVD
+/. 9 c.878A>C r.(?) p.(Gln293Pro) Both (homozygous) - pathogenic g.122770055T>G - c.878A>C(H) - BBS7_000059 Family AR14 (A2824) has previously been published for a heterozygous change in BBS12 (p.G540D) present in individual ‘-04’ (but not ‘-08’) by Stoetzel et al. 2007 PubMed: Janssen-2011 - - Germline - 0.046 - 0 - DNA SEQ, HD - SEQ or HD retinal disease AR14(A2824)-4 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
+?/. 9 c.878A>C r.(?) p.(Gln293Pro) Unknown - likely pathogenic g.122770055T>G - c.878A>C(h) - BBS7_000059 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 4.6% ; absent in 96 controls - 0 - DNA SEQ - - retinal disease AR634(A2862)-II1 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
+?/. - c.896_897del r.(?) p.(Lys299Argfs*4) Parent #2 ACMG likely pathogenic g.122770038_122770039del g.121848883_121848884del BBS7, c.896_897delAA, p.Lys299Argfs*4, compound heterozygous - BBS7_000096 - PubMed: Perea-Romero 2021 - - Germline yes - - 0 - DNA ? - clinical exome sequencing retinal disease RP-0928 PubMed: Perea-Romero 2021 - - - Spain - - 0 - - 1 LOVD
+?/. - c.934G>A r.(?) p.(Gly312Ser) Unknown - likely pathogenic g.122769999C>T g.121848844C>T BBS7(NM_018190.3):c.934G>A (p.(Gly312Ser)) - BBS7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9i c.934+32A>G r.(=) p.(=) Unknown - unclassified g.122769967T>C - c.934+32A>G - BBS7_000083 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
?/. 9i c.934+32A>G r.(=) p.(=) Unknown - unclassified g.122769967T>C - c.934+32A>G - BBS7_000083 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
?/. 9i c.934+32A>G r.(=) p.(=) Unknown - unclassified g.122769967T>C - c.934+32A>G - BBS7_000083 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+/. - c.949C>G r.(?) p.(Leu317Val) Both (homozygous) - pathogenic (recessive) g.122768647G>C g.121847492G>C - - BBS7_000063 - PubMed: Ece Solmaz 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat11 PubMed: Ece Solmaz 2015 patient - - Turkey - - 0 - - 1 LOVD
+?/. - c.968A>G r.(?) p.(His323Arg) Parent #1 - likely pathogenic g.122768628T>C g.121847473T>C BBS7, variant 1: c.968A>G/p.H323R, variant 2: c.968A>G/p.H323R - BBS7_000091 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 146 PubMed: Weisschuh 2020 Filing key number: 62, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.968A>G r.(?) p.(His323Arg) Both (homozygous) - likely pathogenic g.122768628T>C g.121847473T>C BBS7 c.968A>G p.(His323Arg) - BBS7_000091 homozygous PubMed: Méjécase 2020 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 45 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - 0 - - 1 LOVD
+/. - c.991G>T r.(?) p.(Glu331Ter) Unknown - pathogenic g.122768605C>A g.121847450C>A BBS7(NM_176824.2):c.991G>T (p.E331*) - BBS7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Unknown ACMG pathogenic g.122768595del g.121847440del NM_176824.2:c.1002del, NP_789794.1:p.(Asn335IlefsTer47), NC_000004.11:g.122768595del - BBS7_000069 - PubMed: Wang 2018 - - Germline ? - - 0 - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082404 PubMed: Wang 2018 - M ? China Han Chinese - 0 - - 1 LOVD
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Both (homozygous) - pathogenic g.122768594delA - c.1002delT(p.Ile334Ilefs*15) - BBS7_000069 - PubMed: Chen-2013 - - Germline - - - 0 - DNA arraySEQ, SEQ, PCR blood - retinal disease - PubMed: Chen-2013 - F - China Chinese - 0 - - 1 LOVD
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Both (homozygous) ACMG pathogenic g.122768595del g.121847440del BBS7 c.1002delT, p.N335Ifs*47 - BBS7_000069 homozygous PubMed: Meng 2021 - - Germline yes - - 0 - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F7-II:1 PubMed: Meng 2021 - M no China - - 0 - - 1 LOVD
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