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 NM_001178007.1 transcript reference sequence.

221 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 - - - - Caucasian - 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 - - - - Caucasian - 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 - - Caucasian - 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 - - Caucasian - 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.-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.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 - - - - - - - - - - - - - - - - - - -
?/. - 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.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
-?/. - 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 - - Caucasian - 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
+/. - 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 - - - - Caucasian - 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 Caucasian - 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 Caucasian - 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 - - - - Caucasian - 0 - - 1 LOVD
-?/. - c.355G>A r.(?) p.(Gly119Ser) Unknown - likely benign g.123663402G>A g.122742247G>A 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 - - - - Caucasian - 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.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 - - - - Caucasian - 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 - - - - Caucasian - 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
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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
-?/. 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 - - - - Caucasian - 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 - - - - - - - - - - - - - - - - - - -
+?/. 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 - - - - Caucasian - 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
+?/. - c.1055A>C r.(?) p.(Gln352Pro) Unknown - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 706Z PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
+?/. - c.1055A>C r.(?) p.(Gln352Pro) Unknown - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 706Z PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
-/. - c.1062G>C r.(?) p.(Val354=) Unknown - benign g.123664109G>C g.122742954G>C BBS12(NM_001178007.1):c.1062G>C (p.V354=) - BBS12_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1062G>C r.(?) p.(Val354=) Unknown - benign g.123664109G>C g.122742954G>C BBS12(NM_001178007.1):c.1062G>C (p.V354=) - BBS12_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1062G>C r.(?) p.(Val354=) Unknown - benign g.123664109G>C g.122742954G>C BBS12(NM_001178007.1):c.1062G>C (p.V354=) - BBS12_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T g.122742955C>T - - BBS12_000099 - PubMed: Ellingford 2016 - - Germline - - - 0 - DNA SEQ - 105-gene panel retinal disease 10001098 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - 0 - - 1 LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA arraySNP, SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - Gypsy - 0 - - 5 LOVD
+/. 2 c.1063C>T c.1063C>T p.(Arg355*) Both (homozygous) ACMG pathogenic g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*) - BBS12_000099 homozygous PubMed: Manara 2019 - rs121918327 Germline ? - - 0 - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 6 PubMed: Manara 2019 - F - - - - 0 - - 1 LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T g.122742955C>T BBS12;NM_001178007.1;;c.[1063C>T];[1063C>T];p.[(Arg355*)];[(Arg355*)];(mumishet) - BBS12_000099 homozygous; sister is also homozygous PubMed: Jiman 2020 - - Germline yes - - 0 - DNA SEQ-NG-I - 105 genes panel retinal disease 41 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Schaefer-2011 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Schaefer-2011 - - - France french - 0 - - 1 LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) Both (homozygous) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Canadian Native Indian (Dene) - 0 - - 1 LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) Unknown - pathogenic g.123664111G>A - [R355Q]+[=] - BBS12_000133 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Canadian Native Indian (Dene) - 0 - - 1 LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) Both (homozygous) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Canadian Native Indian (Dene) - 0 - - 1 LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) Parent #2 - likely pathogenic g.123664111G>A - [p.M390R];[p.N524del] - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel - - - Caucasian - 0 - - 1 LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) Unknown - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - F - - Caucasian - 0 - - 1 LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) Unknown - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - ? ? blood - retinal disease - PubMed: Deveault-2011 - M - - French - 0 - - 1 LOVD
?/. - c.1067T>G r.(?) p.(Ile356Arg) Unknown - VUS g.123664114T>G g.122742959T>G - - BBS12_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1082del r.(?) p.(Gly361Valfs*22) Unknown - likely pathogenic g.123664129del - c.1082delG/p.(Gly361Valfs*21)b - BBS12_000147 - PubMed: Alvarez-Satta-2014 - - Germline - 0/100 chromosomes - 0 - DNA SEQ-NG - - retinal disease GBB4 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+/. 3 c.1092del r.(?) p.(Glu365Argfs*18) Parent #1 - pathogenic g.123664139del g.122742984del E365fsX382 - BBS12_000016 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - 0 - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1103G>A r.(?) p.(Arg368His) Unknown - benign g.123664150G>A g.122742995G>A BBS12(NM_001178007.1):c.1103G>A (p.R368H), BBS12(NM_152618.3):c.1103G>A (p.R368H) - BBS12_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1103G>A r.(?) p.(Arg368His) Unknown - benign g.123664150G>A g.122742995G>A BBS12(NM_001178007.1):c.1103G>A (p.R368H), BBS12(NM_152618.3):c.1103G>A (p.R368H) - BBS12_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1114_1115delTT r.(?) p.(Phe372*) Both (homozygous) - pathogenic g.123664161_123664162delTT - p.F372fsX373 (c.1114delTT) - BBS12_000121 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - M - Spain Caucasian - 0 - - 1 LOVD
+/. 3 c.1114_1115delTT r.(?) p.(Phe372*) Both (homozygous) - pathogenic g.123664161_123664162delTT - p.F372fsX373 (c.1114delTT) - BBS12_000121 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - M - Spain Caucasian - 0 - - 1 LOVD
+/. 3 c.1115_1116del r.(?) p.(Phe372*) Parent #1 - pathogenic g.123664162_123664163del g.122743007_122743008del F372fsX373 - BBS12_000008 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - 0 - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - 0 - - 1 Johan den Dunnen
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