Unique 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.

134 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/., +?/., ?/. 23 - c.? r.(?) p.(Asn461fs*9), p.(Gly361fs*21), p.(Phe372fs*1), p.(Ser631fs*7), p.(Thr380fs*2), p.?, p.D480MfsX3, 1 more item - likely pathogenic, pathogenic, VUS g.? - (c.2023C > T; p.Arg675X), (c.271dupG; p.Cys91fs), G630fsX638/N506K/DelP507, M390R/E384X, [p.L779Q], 13 more items - TRAPPC11_000000 normal 2nd chromosome PubMed: Billingsley-2010, PubMed: Castro Sanchez 2015, PubMed: Deveault-2011, PubMed: Imhoff-2011, 1 more item - - Germline, Unknown - - - - - LOVD
-/. 1 - c.-312G>A r.(?) p.(=) - benign g.123653926G>A g.122732771G>A - - BBS12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - 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 - - - - LOVD
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.65T>C r.(?) p.(Phe22Ser) - pathogenic (recessive) g.123663112T>C - c.[65T>C];[65T>C] - BBS12_000159 - PubMed: Mary-2019 - - Germline - - - - - LOVD
?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
+/., +?/., -/., ?/. 8 2, 3 c.116T>C c.116T>C, r.(?) p.(Ile39Thr) ACMG benign, likely pathogenic, pathogenic (recessive), VUS g.123663163T>C g.122742008T>C BBS12 c.116T>C, p.Ile39Thr, c.116T>C, NM_152618.2:c.116T>C, p.Ile39Thr, 1 more item - BBS12_000044 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India), 2 more items PubMed: Anasagasti-2013, PubMed: Costa 2017, PubMed: Duelund Hjortshoj-2010, PubMed: Manara 2019, 2 more items - rs138036823 CLASSIFICATION record, Germline ?, yes 0.01, 14/2794 individuals, <0.01 - - - VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
+?/. 1 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 - - - - - Johan den Dunnen
-?/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 3 c.223del r.(?) p.(Gln75Lysfs*37) - likely pathogenic g.123663270del - c.223delC - BBS12_000108 - PubMed: Sathya Priya-2015 - - Germline yes - - - - LOVD
+?/. 5 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - (c.1115_1116delTT; p.Phe372X), c.263T>G/p.(Leu88Arg), p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014, PubMed: Castro Sanchez 2015, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
+/. 1 - 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 - - - - LOVD
+?/. 1 3 c.270del r.(?) p.(Val92Leufs*20) - likely pathogenic g.123663317del - c.268delT - BBS12_000113 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - LOVD
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.323C>G r.(?) p.(Pro108Arg) - likely pathogenic g.123663370C>G - c.704C>G - BBS12_000109 - PubMed: Sathya Priya-2015 - - Germline yes - - - - LOVD
+/. 2 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. - - - LOVD
+?/. 1 3 c.335_337del r.(?) p.(Val113del) - likely pathogenic g.123663382_123663384del - c.335delGTA - BBS12_000115 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - LOVD
+/., +?/., -/., -?/., ?/. 7 3 c.355G>A r.(?) p.(Gly119Ser) - benign, likely benign, likely pathogenic, pathogenic, VUS g.123663402G>A g.122742247G>A BBS12(NM_001178007.1):c.355G>A (p.G119S), BBS12(NM_152618.3):c.355G>A (p.G119S), c.355G>A, 2 more items - BBS12_000046 normal 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Billingsley-2010, PubMed: Chen-2011, PubMed: Costa 2017, PubMed: Deveault-2011 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 3 c.420_423del r.(?) p.(Cys140Trpfs*15) - likely pathogenic g.123663467_123663470del - c.420_423delTATG - BBS12_000073 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - LOVD
+?/., ?/. 4 3 c.476C>T r.(?) p.(Pro159Leu) - likely pathogenic, unclassified, VUS g.123663523C>T - c.476C>T, p.P159L, [p.E61K] - BBS12_000116 normal 2nd chromosome PubMed: Chen-2011, PubMed: Imhoff-2011, PubMed: Muller-2010, PubMed: Stoetzel 2007, 1 more item - - Germline, Unknown - - - - - LOVD
?/. 1 - 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
?/. 1 - c.617T>G r.(?) p.(Val206Gly) - VUS g.123663664T>G g.122742509T>G - - BBS12_000097 - PubMed: Bryant 2018 - - Germline - - - - - LOVD
+/. 2 3 c.670dup r.(?) p.(Thr224Asnfs*12), p.(Thr224AsnfsTer12) - pathogenic, pathogenic (recessive) g.123663717dup g.122742562dup c.[670dup];[1574G>A] - BBS12_000081 VKGL data sharing initiative Nederland PubMed: Mary-2019 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.695_731del r.(?) p.(Ile232Lysfs*3) - pathogenic g.123663742_123663778del - c.695_731del37 - BBS12_000156 - PubMed: Strong-2020 - - Unknown - - - - - LOVD
-/., -?/. 2 - c.714T>G r.(?) p.(Asn238Lys) - benign, 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, VKGL-NL_Utrecht
+?/. 1 3 c.769dup r.(?) p.(Thr257Asnfs*10) - likely pathogenic g.123663816dup - c.769insA - BBS12_000117 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - LOVD
+?/. 4 - 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 ? - - - - LOVD
+?/., -?/. 2 3 c.787T>C r.(?) p.(Tyr263His) - likely benign, likely pathogenic g.123663834T>C - [G119S;Y263H]+[=], [p.Y24X];[p.Y24X] - BBS12_000130 normal 2nd chromosome PubMed: Billingsley-2010, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
+/. 1 - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 3 c.865G>C r.(?) p.(Ala289Pro) - likely pathogenic g.123663912G>C - c.865G>C - BBS12_000118 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - LOVD
-/. 1 3 c.874C>T r.(=) p.(=) - benign g.123663921C>T - c.874C>T - BBS12_000119 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - - - LOVD
+?/. 1 3 c.877C>G r.(?) p.(Gln293Glu) - likely pathogenic g.123663924C>G - M390R/E384X - BBS12_000131 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
+?/. 1 - 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 - - - - LOVD
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/., +?/. 2 - c.898C>T r.(?) p.(Gln300*), p.(Gln300Ter) ACMG likely pathogenic, pathogenic g.123663945C>T g.122742790C>T BBS12 c.898C>T, p.Q300X, BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355* - BBS12_000154 homozygous; solved, possibly solved, compound heterozygous PubMed: Weisschuh 2020, PubMed: Zacchia 2021 - - Unknown ? - - - - LOVD
+?/. 2 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 - - - LOVD
+/. 1 3 c.998G>A r.(?) p.(Gly333Glu) - pathogenic g.123664045G>A - c.998G>A(H) - BBS12_000146 - PubMed: Janssen-2011 - - Germline - - - - - LOVD
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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 3 c.1037T>C r.(?) p.(Ile346Thr) - likely pathogenic, VUS g.123664084T>C - c.1037T>C, p.I346T, [p.L125R] - BBS12_000120 normal 2nd chromosome PubMed: Imhoff-2011, PubMed: Muller-2010, PubMed: Stoetzel 2007, PubMed: Scheidecker 2015 - - Germline, Unknown - - - - - LOVD
+/., +?/. 4 3 c.1055A>C r.(?) p.(Gln352Pro) - likely pathogenic, pathogenic (recessive) g.123664102A>C g.122742947A>C c.[1055A>C];[1055A>C], NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017, PubMed: Mary-2019 - - Germline - - - - - LOVD
-/. 3 - c.1062G>C r.(?) p.(Val354=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/., +?/. 8 2, 3 c.1063C>T c.1063C>T, r.(?) p.(Arg355*) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*), BBS12;NM_001178007.1, c.1063C>T, c.[1063C>T];[1063C>T], 2 more items - BBS12_000099 homozygous, homozygous; sister is also homozygous, possibly solved, compound heterozygous PubMed: Ellingford 2016, PubMed: Jiman 2020, PubMed: Manara 2019, PubMed: Mary-2019, 3 more items - rs121918327 Germline, Unknown ?, yes - - - - LOVD
+/., +?/. 6 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic, pathogenic g.123664111G>A - M390R/E384X, [p.M390R];[p.N524del], [R355Q]+[=], [R355Q]+[R355Q] - BBS12_000133 normal 2nd chromosome PubMed: Billingsley-2010, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
?/. 1 - c.1067T>G r.(?) p.(Ile356Arg) - VUS g.123664114T>G g.122742959T>G - - BBS12_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 3 c.1082del r.(?) p.(Gly361Valfs*22) - likely pathogenic g.123664129del - c.1082delG/p.(Gly361Valfs*21)b - BBS12_000147 - PubMed: Alvarez-Satta-2014 - - Germline - 0/100 chromosomes - - - LOVD
+/. 1 3 c.1092del r.(?) p.(Glu365Argfs*18) - pathogenic g.123664139del g.122742984del E365fsX382 - BBS12_000016 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1092delA r.(?) p.(Glu365ArgfsTer18) - VUS g.123664139del g.122742984del WDPCP c.1092delA - BBS12_000016 no protein annotation, extrapolated from nucleotide and databases; heterozygous PubMed: Kim 2010 - - Unknown ? - - - - LOVD
?/. 1 - c.1102C>T r.(?) p.(Arg368Cys) ACMG VUS g.123664149C>T g.122742994C>T BBS12 C1102T, p.R368C - BBS12_000157 heterozygous; unsolved PubMed: Zacchia 2021 - - Unknown ? - - - - LOVD
-/. 2 - c.1103G>A r.(?) p.(Arg368His) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 3 c.1114_1115delTT r.(?) p.(Phe372*) - pathogenic g.123664161_123664162delTT - p.F372fsX373 (c.1114delTT) - BBS12_000121 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - - - LOVD
+/., +?/., ?/. 13 2, 3 c.1115_1116del r.(?) p.(Phe372*), p.(Phe372Ter) - likely pathogenic, pathogenic, pathogenic (recessive), VUS g.123664162_123664163del g.122743007_122743008del BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V, c.1114delTT, c.1114_1115del, 6 more items - BBS12_000008 no variant 2nd chromosome, possibly solved, compound heterozygous, 1 more item PubMed: Alvarez-Satta-2014, PubMed: Bravo-Gil 2017, PubMed: Hariri 2018, PubMed: Mary-2019, 3 more items - - CLASSIFICATION record, Germline, Unknown ?, yes - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Nereida Bravo Gil
+?/. 2 3 c.1115_1116delTT r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163delTT - P159L/I346T, R49W/L414S - BBS12_000134 - PubMed: Dulfer-2010 - - Unknown - - - - - LOVD
+?/. 1 3 c.1140del r.(?) p.(Val381Tyrfs*2) - likely pathogenic g.123664187del - c.1140delA/p.(Thr380Thrfs*2)b - BBS12_000148 - PubMed: Alvarez-Satta-2014 - - Germline - 0/100 chromosomes - - - LOVD
+?/. 1 - c.1156C>T r.(?) p.(Arg386Trp) - likely pathogenic g.123664203C>T g.122743048C>T BBS12 c.1156C>T - BBS12_000167 heterozygous PubMed: Nikkhah 2017 - - Germline yes - - - - LOVD
+/. 2 3 c.1156_1157delinsTA r.(?) p.(Arg386*) - pathogenic g.123664203_123664204delinsTA - c.1156_1157CG>TA - BBS12_000151 - PubMed: Fattahi 2014 - - Germline - - - - - LOVD
-/. 3 - c.1157G>A r.(?) p.(Arg386Gln) - benign g.123664204G>A g.122743049G>A BBS12(NM_001178007.1):c.1157G>A (p.R386Q) - BBS12_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1190C>T r.(?) p.(Ala397Val) - VUS g.123664237C>T g.122743082C>T - - BBS12_000094 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.1191A>G r.(=) p.(=) - VUS g.123664238A>G - BBS12: c.1191A>G - BBS12_000122 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0/100 ethnically matched control chromosomes - - - LOVD
+/., +?/. 2 3 c.1198G>A r.(?) p.(Val400Met) - likely pathogenic, pathogenic g.123664245G>A - [p.K243IfsX15];[p.K243IfsX15], [V400M;R674C]+[V400M;R674C] - BBS12_000135 - PubMed: Billingsley-2010, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
-/. 2 - c.1200G>A r.(?) p.(Val400=) - benign g.123664247G>A g.122743092G>A BBS12(NM_001178007.1):c.1200G>A (p.V400=) - BBS12_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.1207G>A r.(?) p.(Val403Met) - likely benign g.123664254G>A g.122743099G>A BBS12(NM_001178007.1):c.1207G>A (p.V403M), BBS12(NM_152618.3):c.1207G>A (p.V403M) - BBS12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 4 - c.1209G>A r.(=), r.(?) p.(=), p.(Val403=) - benign, likely benign g.123664256G>A g.122743101G>A BBS12(NM_001178007.1):c.1209G>A (p.V403=) - BBS12_000055 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs17006092 CLASSIFICATION record, Germline - 3/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
+?/. 1 - c.1223A>G r.(?) p.(Lys408Arg) ACMG likely pathogenic g.123664270A>G g.122743115A>G BBS12 c.1223A>G, p.(Lys408Arg) - BBS12_000102 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+?/. 1 - c.1237C>G r.(?) p.(Leu413Val) - likely pathogenic g.123664284C>G g.122743129C>G BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V - BBS12_000084 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 2 3 c.1276T>C r.(?) p.(Cys426Arg) ACMG likely pathogenic (recessive) g.123664323T>C g.122743168T>C c.1276T>C, c.1276T>C, p.C426R - BBS12_000153 Homozygous PubMed: Liu-2020, PubMed: Tao 2020 - - Germline yes - - - - LOVD
-/. 3 - c.1286G>C r.(?) p.(Ser429Thr) - benign g.123664333G>C g.122743178G>C BBS12(NM_001178007.1):c.1286G>C (p.S429T), BBS12(NM_152618.3):c.1286G>C (p.S429T) - BBS12_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.1287T>C r.(?) p.(Ser429=) - likely benign g.123664334T>C - BBS12(NM_001178007.1):c.1287T>C (p.S429=) - BBS12_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1302C>T r.(?) p.(Ile434=) - benign g.123664349C>T g.122743194C>T BBS12(NM_001178007.1):c.1302C>T (p.I434=) - BBS12_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 3 c.1380G>C r.(=), r.(?) p.(=), p.(Val460=) - benign, likely benign g.123664427G>C g.122743272G>C BBS12(NM_001178007.1):c.1380G>C (p.V460=) - BBS12_000040 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - rs13135766 CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/., -/. 3 3 c.1381A>C r.(?) p.(Asn461His) - benign, likely pathogenic g.123664428A>C g.122743273A>C BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H), c.1381A>C - BBS12_000058 VKGL data sharing initiative Nederland PubMed: Song-2011 - rs10027479 CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 3 c.1383_1386del r.(?) p.(Asn461Lysfs*10) - likely pathogenic g.123664430_123664433del - c.1383_1386delTGAA/p.(Asn461Lysfs*9) - BBS12_000149 - PubMed: Alvarez-Satta-2014 - - Germline - - - - - LOVD
+?/. 2 3 c.1394T>C r.(?) p.(Val465Ala) - likely pathogenic g.123664441T>C g.122743286T>C c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans), c.1394T>C - BBS12_000123 - PubMed: Feuillan-2011, PubMed: Hariri 2018 - - Germline ? - - - - LOVD
-/. 2 - c.1398C>T r.(?) p.(Gly466=) - benign g.123664445C>T g.122743290C>T BBS12(NM_001178007.1):c.1398C>T (p.G466=) - BBS12_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 3 - c.1399G>A r.(?) p.(Asp467Asn) - benign g.123664446G>A g.122743291G>A BBS12(NM_001178007.1):c.1399G>A (p.D467N) - BBS12_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1402G>A r.(?) p.(Gly468Arg) - VUS g.123664449G>A g.122743294G>A BBS12(NM_001178007.1):c.1402G>A (p.G468R) - BBS12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1410C>T r.(?) p.(Cys470=) - benign g.123664457C>T g.122743302C>T BBS12(NM_001178007.1):c.1410C>T (p.C470=) - BBS12_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 2 3 c.1438del r.(?) p.(Asp480Metfs*3) - likely pathogenic g.123664485del - c.1438delG - BBS12_000136 - PubMed: Feuillan-2011 - - Germline - - - - - LOVD
-/. 3 - c.1451G>A r.(?) p.(Arg484Lys) - benign g.123664498G>A g.122743343G>A BBS12(NM_001178007.1):c.1451G>A (p.R484K), BBS12(NM_152618.3):c.1451G>A (p.R484K) - BBS12_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/., +?/. 2 3 c.1483_1484del r.(?) p.(Glu495Argfs*3) - likely pathogenic, pathogenic g.123664530_123664531del - 1483_1484delGA (E495fsX498), c.1483delGA - BBS12_000100 - PubMed: Harville-2010, PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - 0/90 ethnically matched controls - - - LOVD
?/. 1 - c.1499T>C r.(?) p.(Val500Ala) - VUS g.123664546T>C - BBS12(NM_001178007.1):c.1499T>C (p.V500A) - BBS12_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 5 3 c.1502C>T r.(?) p.(Thr501Met) - likely pathogenic, pathogenic, pathogenic (recessive) g.123664549C>T - c.1502C>T, c.[1115_1116del];[1502C>T], [p.R355Q];[p.R355Q], [T501M]+[R525H] - BBS12_000124 - PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Mary-2019, 1 more item - - Germline, Unknown - - - - - LOVD
+?/. 1 3 c.1503G>A r.(=) p.(=) - likely pathogenic g.123664550G>A - [p.M390R];[p.M390R] - BBS12_000138 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
-?/. 1 3 c.1503G>H r.(=) p.(=) - likely benign g.123664550G>C - [T501T]+[=] - BBS12_000137 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - - - LOVD
+?/. 1 - c.1504G>T r.(?) p.(Ala502Ser) - likely pathogenic g.123664551G>T g.122743396G>T BBS12, variant 1: c.2023C>T/p.R675*, variant 2: c.1504G>T/p.A502S - BBS12_000155 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 1 3 c.1507G>A r.(?) p.(Val503Met) - likely pathogenic g.123664554G>A - c.1507G>A(h) - BBS12_000150 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 1.4% ; absent in 96 controls - - - LOVD
?/. 1 - c.1507G>T r.(?) p.(Val503Leu) - VUS g.123664554G>T g.122743399G>T BBS12(NM_001178007.1):c.1507G>T (p.V503L) - BBS12_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1531C>T r.(?) p.(Gln511Ter) - pathogenic g.123664578C>T g.122743423C>T - - BBS12_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 4 2, 3 c.1531_1539del c.1531_1539del, r.(?) p.(Gln511_Gln513del) ACMG likely pathogenic, pathogenic g.123664578_123664586del g.122743423_122743431del BBS12 c.1531_1539del, p.(Gln511_Gln513del), c.1531_1539delCAGATGCAA, 1 more item - BBS12_000086 homozygous, single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Duelund Hjortshoj-2010, PubMed: Jespersgaar 2019, PubMed: Manara 2019 - rs752762669 CLASSIFICATION record, Germline ?, yes - - - - VKGL-NL_VUmc
+?/. 1 3 c.1535G>A r.(?) p.? - likely pathogenic g.123664582G>A - [p.R355Q];[p.R355Q] - BBS12_000139 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
-?/. 1 - c.1554G>A r.(?) p.(Arg518=) - likely benign g.123664601G>A g.122743446G>A BBS12(NM_001178007.1):c.1554G>A (p.R518=) - BBS12_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.1560G>A r.(?) p.(Trp520*) - unclassified g.123664607G>A - 1560G>A - BBS12_000140 - PubMed: Chen-2011 - - Germline - - - - - LOVD
?/. 1 - c.1571A>G r.(?) p.(Tyr524Cys) - VUS g.123664618A>G - BBS12(NM_001178007.1):c.1571A>G (p.Y524C) - BBS12_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.1572A>G r.(?) p.? - VUS g.123664619A>G - BBS12: c.1572A>G - BBS12_000125 A not found at position 1953, found T instead. PubMed: Duelund Hjortshoj-2010 - - Germline - 0/100 ethnically matched control chromosomes - - - LOVD
+/. 2 3 c.1574G>A r.(?) p.(Arg525His) - pathogenic, pathogenic (recessive) g.123664621G>A - c.[670dup];[1574G>A], [T501M]+[R525H] - BBS12_000141 - PubMed: Billingsley-2010, PubMed: Mary-2019 - - Germline - - - - - LOVD
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