Full data view for gene BBS12

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

286 entries on 3 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.? Parent #1 - likely pathogenic g.? - N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #2 - likely pathogenic g.? - G630fsX638/N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
+/. - c.? r.(?) p.K243IfsX15 Both (homozygous) - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - 0 - - 1 LOVD
+/. - c.? r.(?) p.K243IfsX15 Both (homozygous) - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - South African Black - 0 - - 1 LOVD
+/. - c.? r.(?) p.K243IfsX15 Both (homozygous) - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - 0 - - 1 LOVD
+/. - c.? r.(?) p.K243IfsX15 Both (homozygous) - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - 0 - - 1 LOVD
+/. - c.? r.(?) p.D480MfsX3 Both (homozygous) - pathogenic g.? - [D480MfsX3]+[D480MfsX3] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Pakistani - 0 - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.T549I] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Ghanian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.L779Q] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 novel, No principal mutations. - - - Grenadian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - [p.P425L] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 novel, No principal mutations. - - - Grenadian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - [p.C91W];[p.V707XfsX1] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - English/Irish/Scottish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.V400M; p.R674C];[p.V400M; p.R674C] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - - - - Danish/Dutch/Norwegian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - [p.S578X];[p.S578X] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - El-Salvadorian - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Paternal (inferred) - likely pathogenic g.? - (c.2023C > T; p.Arg675X) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - M - - white - 0 - - 1 LOVD
?/. - c.? r.(?) p.? Maternal (inferred) - VUS g.? - (c.271dupG; p.Cys91fs) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - F - - white - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - M390R/E384X - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) Both (homozygous) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) Both (homozygous) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) Both (homozygous) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - F - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Asn461fs*9) Unknown - likely pathogenic g.? - p.(Asn461fs*9) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a F - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Ser631fs*7) Unknown - likely pathogenic g.? - p.(Ser631fs*7) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a M - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Gly361fs*21) Unknown - likely pathogenic g.? - p.(Gly361fs*21) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - 0 - - 1 LOVD
+?/. - c.? r.(?) p.(Thr380fs*2) Unknown - likely pathogenic g.? - p.(Thr380fs*2) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - 0 - - 1 LOVD
-/. - c.-312G>A r.(?) p.(=) Unknown - benign g.123653926G>A g.122732771G>A - - BBS12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.51A>G r.(?) p.(Gln17=) Unknown - benign g.123663098A>G g.122741943A>G BBS12(NM_001178007.1):c.51A>G (p.Q17=) - BBS12_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.56T>G r.(?) p.(Leu19Arg) Maternal (confirmed) - likely pathogenic g.123663103T>G g.122741948T>G BBS12 c.56T>G - BBS12_000166 heterozygous PubMed: Nikkhah 2017 - - Germline yes - - 0 - DNA SEQ - - BBS ? PubMed: Nikkhah 2017 parents first-degree cousin F yes Iran Iranian - 0 - - 1 LOVD
-?/. - c.58T>C r.(?) p.(Ser20Pro) Unknown - likely benign g.123663105T>C g.122741950T>C BBS12(NM_001178007.1):c.58T>C (p.S20P) - BBS12_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.65T>C r.(?) p.(Phe22Ser) Parent #1 - pathogenic (recessive) g.123663112T>C - c.[65T>C];[65T>C] - BBS12_000159 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 32 gestation weeks M - France - - 0 - - 1 LOVD
+/. 3 c.65T>C r.(?) p.(Phe22Ser) Parent #2 - pathogenic (recessive) g.123663112T>C - c.[65T>C];[65T>C] - BBS12_000159 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 32 gestation weeks M - France - - 0 - - 1 LOVD
?/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - VUS g.123663114G>A g.122741959G>A BBS12(NM_001178007.1):c.67G>A (p.A23T) - BBS12_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68C>T r.(?) p.(Ala23Val) Unknown - VUS g.123663115C>T - BBS12(NM_152618.3):c.68C>T (p.A23V) - BBS12_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75A>G r.(?) p.(Thr25=) Unknown - likely benign g.123663122A>G - BBS12(NM_001178007.1):c.75A>G (p.T25=) - BBS12_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105A>T r.(?) p.(Ser35=) Unknown - likely benign g.123663152A>T g.122741997A>T BBS12(NM_001178007.1):c.105A>T (p.S35=) - BBS12_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.116T>C r.(?) p.(Ile39Thr) Unknown - benign g.123663163T>C g.122742008T>C BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T) - BBS12_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.116T>C r.(?) p.(Ile39Thr) Unknown - benign g.123663163T>C g.122742008T>C BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T) - BBS12_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.116T>C r.(?) p.(Ile39Thr) Parent #1 - VUS g.123663163T>C g.122742008T>C - - BBS12_000044 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138036823 Germline - 14/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 14 Mohammed Faruq
?/. - c.116T>C r.(?) p.(Ile39Thr) Unknown - VUS g.123663163T>C g.122742008T>C - - BBS12_000044 - PubMed: Costa 2017 - - Germline - - - 0 - DNA SEQ-NG - 132-gene panel retinal disease Pat16 PubMed: Costa 2017 - M - Brazil - - 0 - - 1 LOVD
?/. - c.116T>C r.(?) p.(Ile39Thr) Unknown - VUS g.123663163T>C g.122742008T>C NM_152618.2:c.116T>C - BBS12_000044 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71315 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 LOVD
+/. 3 c.116T>C r.(?) p.(Ile39Thr) Unknown - pathogenic (recessive) g.123663163T>C - p.Ile39Thr - BBS12_000044 - PubMed: Anasagasti-2013 - rs138036823 Germline yes <0.01 - 0 - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - 0 - - 1 LOVD
-/. 3 c.116T>C r.(?) p.(Ile39Thr) Unknown - benign g.123663163T>C - c.116T>C - BBS12_000044 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - 1 LOVD
+?/. 2 c.116T>C c.116T>C p.(Ile39Thr) Unknown ACMG likely pathogenic g.123663163T>C g.122742008T>C BBS12 c.116T>C, p.Ile39Thr - BBS12_000044 heterozygous PubMed: Manara 2019 - rs138036823 Germline ? - - 0 - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 4 PubMed: Manara 2019 - F - - - - 0 - - 1 LOVD
+?/. 3 c.175del r.(?) p.(Ser59ValfsTer4) Paternal (confirmed) ACMG likely pathogenic g.123663222del g.122742067del c.173(exon3)delA - BBS12_000161 - PubMed: Tang 2022, Journal: Tang 2022 - rs1197816407 Germline - - - 0 - DNA SEQ, SEQ-NG - WES NPHP 368 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - 0 - - 1 Johan den Dunnen
-?/. - c.212A>G r.(?) p.(Asn71Ser) Unknown - likely benign g.123663259A>G g.122742104A>G BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S) - BBS12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212A>G r.(?) p.(Asn71Ser) Unknown - likely benign g.123663259A>G - BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S) - BBS12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.223del r.(?) p.(Gln75Lysfs*37) Both (homozygous) - likely pathogenic g.123663270del - c.223delC - BBS12_000108 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Maternal (inferred) - likely pathogenic g.123663310T>G - (c.1115_1116delTT; p.Phe372X) - BBS12_000129 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - F - - white - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease B63 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease B179 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease FRPN15a PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - p.(Leu88Arg) - BBS12_000129 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a F - Spain Spanish - 0 - - 1 LOVD
+/. - c.265_266del r.(?) p.(Leu89Valfs*11) Paternal (confirmed) ACMG pathogenic g.123663312_123663313del g.122742157_122742158del c.265_266delTT, p. (Leu89Valfs*11) - BBS12_000111 heterozygous PubMed: Jaffal 2019 - - Germline yes - - 0 - DNA SEQ-NG-I blood WES retinal disease FC51: II.2 PubMed: Jaffal 2019 - F no Lebanon - - 0 - - 1 LOVD
+?/. 3 c.270del r.(?) p.(Val92Leufs*20) Parent #1 - likely pathogenic g.123663317del - c.268delT - BBS12_000113 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 2 LOVD
?/. - c.274G>A r.(?) p.(Val92Ile) Unknown - VUS g.123663321G>A g.122742166G>A BBS12(NM_001178007.1):c.274G>A (p.V92I) - BBS12_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.323C>G r.(?) p.(Pro108Arg) Both (homozygous) - likely pathogenic g.123663370C>G - c.704C>G - BBS12_000109 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - 0 - - 1 LOVD
+/. 3 c.323C>T r.(?) p.(Pro108Leu) Both (homozygous) - pathogenic g.123663370C>T - p.P108L (c.3232C>T) - BBS12_000114 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - F - Spain white - 0 - - 1 LOVD
+/. 3 c.323C>T r.(?) p.(Pro108Leu) Both (homozygous) - pathogenic g.123663370C>T - p.P108L (c.3232C>T) - BBS12_000114 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - M - Spain white - 0 - - 1 LOVD
+?/. 3 c.335_337del r.(?) p.(Val113del) Both (homozygous) - likely pathogenic g.123663382_123663384del - c.335delGTA - BBS12_000115 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
-?/. - c.355G>A r.(?) p.(Gly119Ser) Unknown - likely benign g.123663402G>A g.122742247G>A BBS12(NM_001178007.1):c.355G>A (p.G119S), BBS12(NM_152618.3):c.355G>A (p.G119S) - BBS12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.355G>A r.(?) p.(Gly119Ser) Unknown - VUS g.123663402G>A g.122742247G>A - - BBS12_000046 - PubMed: Costa 2017 - - Germline - - - 0 - DNA SEQ-NG - 132-gene panel retinal disease Pat8 PubMed: Costa 2017 - M - Brazil - - 0 - - 1 LOVD
-?/. 3 c.355G>A r.(?) p.(Gly119Ser) Maternal (inferred) - likely benign g.123663402G>A - [G119S;Y263H]+[=] - BBS12_000046 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - 0 - - 1 LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) Unknown - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - 0 - - 1 LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) Unknown - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Tunisian - 0 - - 1 LOVD
+?/. 3 c.355G>A r.(?) p.(Gly119Ser) Both (homozygous) - likely pathogenic g.123663402G>A - [p.Y317C];[p.Y317C] - BBS12_000046 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel - yes - Somalian - 0 - - 1 LOVD
-/. - c.355G>A r.(?) p.(Gly119Ser) Unknown - benign g.123663402G>A - BBS12(NM_001178007.1):c.355G>A (p.G119S), BBS12(NM_152618.3):c.355G>A (p.G119S) - BBS12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378G>T r.(?) p.(Glu126Asp) Unknown - benign g.123663425G>T g.122742270G>T BBS12(NM_152618.3):c.378G>T (p.E126D) - BBS12_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.420_423del r.(?) p.(Cys140Trpfs*15) Unknown - likely pathogenic g.123663467_123663470del - c.420_423delTATG - BBS12_000073 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - 1 LOVD
+?/. 3 c.476C>T r.(?) p.(Pro159Leu) Parent #1 - likely pathogenic g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
+?/. 3 c.476C>T r.(?) p.(Pro159Leu) Unknown - unclassified g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Chen-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - 0 - - 1 LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) Unknown - VUS g.123663523C>T - [p.E61K] - BBS12_000116 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - yes - Dene - 0 - - 1 LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) Unknown - VUS g.123663523C>T - p.P159L - BBS12_000116 - PubMed: Scheidecker 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - 0 - - 1 LOVD
?/. - c.577C>T r.(?) p.(Pro193Ser) Unknown - VUS g.123663624C>T - BBS12(NM_001178007.1):c.577C>T (p.P193S) - BBS12_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617T>G r.(?) p.(Val206Gly) Unknown - VUS g.123663664T>G g.122742509T>G - - BBS12_000097 - PubMed: Bryant 2018 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease JB42 PubMed: Bryant 2018 - - - United States - - 0 - - 1 LOVD
+/. - c.670dup r.(?) p.(Thr224AsnfsTer12) Unknown - pathogenic g.123663717dup g.122742562dup - - BBS12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.670dup r.(?) p.(Thr224Asnfs*12) Parent #1 - pathogenic (recessive) g.123663717dup - c.[670dup];[1574G>A] - BBS12_000081 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 24 gestation weeks F - France - - 0 - - 1 LOVD
+/. 3 c.695_731del r.(?) p.(Ile232Lysfs*3) Both (homozygous) - pathogenic g.123663742_123663778del - c.695_731del37 - BBS12_000156 - PubMed: Strong-2020 - - Unknown - - - 0 - DNA SEQ-NG - - retinal disease - PubMed: Strong-2020 - F - - - - 0 - - 1 LOVD
-?/. - c.714T>G r.(?) p.(Asn238Lys) Unknown - likely benign g.123663761T>G g.122742606T>G BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K) - BBS12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.714T>G r.(?) p.(Asn238Lys) Unknown - benign g.123663761T>G g.122742606T>G BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K) - BBS12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.769dup r.(?) p.(Thr257Asnfs*10) Both (homozygous) - likely pathogenic g.123663816dup - c.769insA - BBS12_000117 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - North Africa - 0 - - 1 LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) Both (homozygous) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG3a PubMed: Aldahmesh 2014 family BBS_DG3, individual a M yes Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) Both (homozygous) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG3b PubMed: Aldahmesh 2014 family BBS_DG3, individual b F yes Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) Both (homozygous) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG3c PubMed: Aldahmesh 2014 family BBS_DG3, individual c F yes Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) Both (homozygous) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG3d PubMed: Aldahmesh 2014 family BBS_DG3, individual d M yes Saudi Arabia - - 0 - - 1 LOVD
-?/. 3 c.787T>C r.(?) p.(Tyr263His) Maternal (inferred) - likely benign g.123663834T>C - [G119S;Y263H]+[=] - BBS12_000130 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - South African Black - 0 - - 1 LOVD
+?/. 3 c.787T>C r.(?) p.(Tyr263His) Both (homozygous) - likely pathogenic g.123663834T>C - [p.Y24X];[p.Y24X] - BBS12_000130 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel - yes - Somalian - 0 - - 1 LOVD
+/. - c.789C>A r.(?) p.(Tyr263Ter) Unknown - pathogenic g.123663836C>A g.122742681C>A BBS12(NM_152618.3):c.789C>A (p.Y263*) - BBS12_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.865G>C r.(?) p.(Ala289Pro) Both (homozygous) - likely pathogenic g.123663912G>C - c.865G>C - BBS12_000118 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
-/. 3 c.874C>T r.(=) p.(=) Unknown - benign g.123663921C>T - c.874C>T - BBS12_000119 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - 1 LOVD
+?/. 3 c.877C>G r.(?) p.(Gln293Glu) Unknown - likely pathogenic g.123663924C>G - M390R/E384X - BBS12_000131 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - F - - French - 0 - - 1 LOVD
+?/. - c.880T>G r.(?) p.(Tyr294Asp) Maternal (confirmed) ACMG likely pathogenic g.123663927T>G g.122742772T>G c.880T > G, p. (Tyr294Asp) - BBS12_000112 heterozygous PubMed: Jaffal 2019 - - Germline yes - - 0 - DNA SEQ-NG-I blood WES retinal disease FC51: II.2 PubMed: Jaffal 2019 - F no Lebanon - - 0 - - 1 LOVD
-?/. - c.893G>T r.(?) p.(Cys298Phe) Unknown - likely benign g.123663940G>T g.122742785G>T BBS12(NM_001178007.1):c.893G>T (p.C298F) - BBS12_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.898C>T r.(?) p.(Gln300*) Parent #1 - likely pathogenic g.123663945C>T g.122742790C>T BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355* - BBS12_000154 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 80 PubMed: Weisschuh 2020 Filing key number: 41, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+/. - c.898C>T r.(?) p.(Gln300Ter) Unknown ACMG pathogenic g.123663945C>T g.122742790C>T BBS12 c.898C>T, p.Q300X - BBS12_000154 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K105 PubMed: Zacchia 2021 - ? - (Italy) - - 0 - - 1 LOVD
+?/. 3 c.959T>A r.(?) p.(Leu320Gln) Both (homozygous) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 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
+?/. 3 c.959T>A r.(?) p.(Leu320Gln) Both (homozygous) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 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
+/. 3 c.998G>A r.(?) p.(Gly333Glu) Both (homozygous) - pathogenic g.123664045G>A - c.998G>A(H) - BBS12_000146 - PubMed: Janssen-2011 - - Germline - - - 0 - DNA SEQ, HD - SEQ or HD retinal disease AR248(A2843)-05 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
?/. - c.1003A>G r.(?) p.(Ile335Val) Unknown - VUS g.123664050A>G g.122742895A>G BBS12(NM_001178007.1):c.1003A>G (p.I335V) - BBS12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1011T>C r.(?) p.(Val337=) Unknown - likely benign g.123664058T>C - BBS12(NM_001178007.1):c.1011T>C (p.V337=) - BBS12_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Parent #2 - likely pathogenic g.123664084T>C - c.1037T>C - BBS12_000120 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Unknown - VUS g.123664084T>C - [p.L125R] - BBS12_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - yes - Dene - 0 - - 1 LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Unknown - VUS g.123664084T>C - p.I346T - BBS12_000120 - PubMed: Scheidecker 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - 0 - - 1 LOVD
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