All variants in the BBS12 gene

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     

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     

Owner     
+?/. - c.? r.(?) p.? - likely pathogenic g.? - N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - G630fsX638/N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.D480MfsX3 - pathogenic g.? - [D480MfsX3]+[D480MfsX3] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. - c.? r.(?) p.? - VUS g.? - [p.T549I] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.L779Q] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.P425L] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.C91W];[p.V707XfsX1] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.V400M; p.R674C];[p.V400M; p.R674C] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.S578X];[p.S578X] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - (c.2023C > T; p.Arg675X) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. - c.? r.(?) p.? - VUS g.? - (c.271dupG; p.Cys91fs) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - M390R/E384X - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Asn461fs*9) - likely pathogenic g.? - p.(Asn461fs*9) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Ser631fs*7) - likely pathogenic g.? - p.(Ser631fs*7) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Gly361fs*21) - likely pathogenic g.? - p.(Gly361fs*21) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Thr380fs*2) - likely pathogenic g.? - p.(Thr380fs*2) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
-/. - c.-312G>A r.(?) p.(=) - benign g.123653926G>A g.122732771G>A - - BBS12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.51A>G r.(?) p.(Gln17=) - 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 - VKGL-NL_Rotterdam
+?/. - c.56T>G r.(?) p.(Leu19Arg) - likely pathogenic g.123663103T>G g.122741948T>G BBS12 c.56T>G - BBS12_000166 heterozygous PubMed: Nikkhah 2017 - - Germline yes - - 0 - LOVD
-?/. - c.58T>C r.(?) p.(Ser20Pro) - 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 - VKGL-NL_Rotterdam
+/. 3 c.65T>C r.(?) p.(Phe22Ser) - pathogenic (recessive) g.123663112T>C - c.[65T>C];[65T>C] - BBS12_000159 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.65T>C r.(?) p.(Phe22Ser) - pathogenic (recessive) g.123663112T>C - c.[65T>C];[65T>C] - BBS12_000159 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
?/. - c.67G>A r.(?) p.(Ala23Thr) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.68C>T r.(?) p.(Ala23Val) - VUS g.123663115C>T - BBS12(NM_152618.3):c.68C>T (p.A23V) - BBS12_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.75A>G r.(?) p.(Thr25=) - likely benign g.123663122A>G - BBS12(NM_001178007.1):c.75A>G (p.T25=) - BBS12_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.105A>T r.(?) p.(Ser35=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.116T>C r.(?) p.(Ile39Thr) - 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 - VKGL-NL_AMC
-/. - c.116T>C r.(?) p.(Ile39Thr) - 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 - VKGL-NL_Utrecht
?/. - c.116T>C r.(?) p.(Ile39Thr) - 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 - Mohammed Faruq
?/. - c.116T>C r.(?) p.(Ile39Thr) - VUS g.123663163T>C g.122742008T>C - - BBS12_000044 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
?/. - c.116T>C r.(?) p.(Ile39Thr) - VUS g.123663163T>C g.122742008T>C NM_152618.2:c.116T>C - BBS12_000044 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+/. 3 c.116T>C r.(?) p.(Ile39Thr) - pathogenic (recessive) g.123663163T>C - p.Ile39Thr - BBS12_000044 - PubMed: Anasagasti-2013 - rs138036823 Germline yes <0.01 - 0 - LOVD
-/. 3 c.116T>C r.(?) p.(Ile39Thr) - benign g.123663163T>C - c.116T>C - BBS12_000044 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - 0 - LOVD
+?/. 2 c.116T>C c.116T>C p.(Ile39Thr) ACMG likely pathogenic g.123663163T>C g.122742008T>C BBS12 c.116T>C, p.Ile39Thr - BBS12_000044 heterozygous PubMed: Manara 2019 - rs138036823 Germline ? - - 0 - LOVD
+?/. 3 c.175del r.(?) p.(Ser59ValfsTer4) ACMG likely pathogenic g.123663222del g.122742067del c.173(exon3)delA - BBS12_000161 - PubMed: Tang 2022, Journal: Tang 2022 - rs1197816407 Germline - - - 0 - Johan den Dunnen
-?/. - c.212A>G r.(?) p.(Asn71Ser) - 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 - VKGL-NL_Utrecht
-?/. - c.212A>G r.(?) p.(Asn71Ser) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 3 c.223del r.(?) p.(Gln75Lysfs*37) - likely pathogenic g.123663270del - c.223delC - BBS12_000108 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - (c.1115_1116delTT; p.Phe372X) - BBS12_000129 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - p.(Leu88Arg) - BBS12_000129 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+/. - c.265_266del r.(?) p.(Leu89Valfs*11) ACMG pathogenic g.123663312_123663313del g.122742157_122742158del c.265_266delTT, p. (Leu89Valfs*11) - BBS12_000111 heterozygous PubMed: Jaffal 2019 - - Germline yes - - 0 - LOVD
+?/. 3 c.270del r.(?) p.(Val92Leufs*20) - likely pathogenic g.123663317del - c.268delT - BBS12_000113 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
?/. - c.274G>A r.(?) p.(Val92Ile) - 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 - VKGL-NL_Rotterdam
+?/. 3 c.323C>G r.(?) p.(Pro108Arg) - likely pathogenic g.123663370C>G - c.704C>G - BBS12_000109 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - LOVD
+/. 3 c.323C>T r.(?) p.(Pro108Leu) - pathogenic g.123663370C>T - p.P108L (c.3232C>T) - BBS12_000114 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - LOVD
+/. 3 c.323C>T r.(?) p.(Pro108Leu) - pathogenic g.123663370C>T - p.P108L (c.3232C>T) - BBS12_000114 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - LOVD
+?/. 3 c.335_337del r.(?) p.(Val113del) - likely pathogenic g.123663382_123663384del - c.335delGTA - BBS12_000115 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
-?/. - c.355G>A r.(?) p.(Gly119Ser) - 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 - VKGL-NL_Utrecht
?/. - c.355G>A r.(?) p.(Gly119Ser) - VUS g.123663402G>A g.122742247G>A - - BBS12_000046 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
-?/. 3 c.355G>A r.(?) p.(Gly119Ser) - likely benign g.123663402G>A - [G119S;Y263H]+[=] - BBS12_000046 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.355G>A r.(?) p.(Gly119Ser) - likely pathogenic g.123663402G>A - [p.Y317C];[p.Y317C] - BBS12_000046 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
-/. - c.355G>A r.(?) p.(Gly119Ser) - 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 - - - - - VKGL-NL_AMC
-/. - c.378G>T r.(?) p.(Glu126Asp) - 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 - VKGL-NL_Utrecht
+?/. 3 c.420_423del r.(?) p.(Cys140Trpfs*15) - likely pathogenic g.123663467_123663470del - c.420_423delTATG - BBS12_000073 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.476C>T r.(?) p.(Pro159Leu) - likely pathogenic g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. 3 c.476C>T r.(?) p.(Pro159Leu) - unclassified g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) - VUS g.123663523C>T - [p.E61K] - BBS12_000116 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) - VUS g.123663523C>T - p.P159L - BBS12_000116 - PubMed: Scheidecker 2015 - - Germline - - - 0 - LOVD
?/. - c.577C>T r.(?) p.(Pro193Ser) - VUS g.123663624C>T - BBS12(NM_001178007.1):c.577C>T (p.P193S) - BBS12_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.617T>G r.(?) p.(Val206Gly) - VUS g.123663664T>G g.122742509T>G - - BBS12_000097 - PubMed: Bryant 2018 - - Germline - - - 0 - LOVD
+/. - c.670dup r.(?) p.(Thr224AsnfsTer12) - pathogenic g.123663717dup g.122742562dup - - BBS12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.670dup r.(?) p.(Thr224Asnfs*12) - pathogenic (recessive) g.123663717dup - c.[670dup];[1574G>A] - BBS12_000081 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.695_731del r.(?) p.(Ile232Lysfs*3) - pathogenic g.123663742_123663778del - c.695_731del37 - BBS12_000156 - PubMed: Strong-2020 - - Unknown - - - 0 - LOVD
-?/. - c.714T>G r.(?) p.(Asn238Lys) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.714T>G r.(?) p.(Asn238Lys) - 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 - - - - - VKGL-NL_Utrecht
+?/. 3 c.769dup r.(?) p.(Thr257Asnfs*10) - likely pathogenic g.123663816dup - c.769insA - BBS12_000117 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. - c.787dup r.(?) p.(Tyr263Leufs*4) - likely pathogenic g.123663834dup g.122742679dup BBS12 c.787dup, p.(Tyr263Leufs*4) - BBS12_000164 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
-?/. 3 c.787T>C r.(?) p.(Tyr263His) - likely benign g.123663834T>C - [G119S;Y263H]+[=] - BBS12_000130 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.787T>C r.(?) p.(Tyr263His) - likely pathogenic g.123663834T>C - [p.Y24X];[p.Y24X] - BBS12_000130 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+/. - c.789C>A r.(?) p.(Tyr263Ter) - 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 - VKGL-NL_Utrecht
+?/. 3 c.865G>C r.(?) p.(Ala289Pro) - likely pathogenic g.123663912G>C - c.865G>C - BBS12_000118 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
-/. 3 c.874C>T r.(=) p.(=) - benign g.123663921C>T - c.874C>T - BBS12_000119 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - 0 - LOVD
+?/. 3 c.877C>G r.(?) p.(Gln293Glu) - likely pathogenic g.123663924C>G - M390R/E384X - BBS12_000131 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.880T>G r.(?) p.(Tyr294Asp) ACMG likely pathogenic g.123663927T>G g.122742772T>G c.880T > G, p. (Tyr294Asp) - BBS12_000112 heterozygous PubMed: Jaffal 2019 - - Germline yes - - 0 - LOVD
-?/. - c.893G>T r.(?) p.(Cys298Phe) - 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 - VKGL-NL_VUmc
+?/. - c.898C>T r.(?) p.(Gln300*) - 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 - LOVD
+/. - c.898C>T r.(?) p.(Gln300Ter) ACMG pathogenic g.123663945C>T g.122742790C>T BBS12 c.898C>T, p.Q300X - BBS12_000154 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD
+?/. 3 c.959T>A r.(?) p.(Leu320Gln) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
+?/. 3 c.959T>A r.(?) p.(Leu320Gln) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
+/. 3 c.998G>A r.(?) p.(Gly333Glu) - pathogenic g.123664045G>A - c.998G>A(H) - BBS12_000146 - PubMed: Janssen-2011 - - Germline - - - 0 - LOVD
?/. - c.1003A>G r.(?) p.(Ile335Val) - 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 - VKGL-NL_Rotterdam
-?/. - c.1011T>C r.(?) p.(Val337=) - likely benign g.123664058T>C - BBS12(NM_001178007.1):c.1011T>C (p.V337=) - BBS12_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 3 c.1037T>C r.(?) p.(Ile346Thr) - likely pathogenic g.123664084T>C - c.1037T>C - BBS12_000120 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) - VUS g.123664084T>C - [p.L125R] - BBS12_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) - VUS g.123664084T>C - p.I346T - BBS12_000120 - PubMed: Scheidecker 2015 - - Germline - - - 0 - LOVD
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