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 NM_001178007.1 transcript reference sequence.

113 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     
+/., +?/., ?/. 16 - c.? r.(?) p.?, p.D480MfsX3, p.K243IfsX15 - likely pathogenic, pathogenic, VUS g.? - (c.2023C > T; p.Arg675X), (c.271dupG; p.Cys91fs), G630fsX638/N506K/DelP507, M390R/E384X, [p.L779Q], 8 more items - TRAPPC11_000000 normal 2nd chromosome PubMed: Billingsley-2010, 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.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
?/. 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.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
-?/. 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
+?/. 4 3 c.263T>G r.(?) p.(Leu88Arg) - likely pathogenic g.123663310T>G - (c.1115_1116delTT; p.Phe372X), c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014, 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
+/., +?/., -?/., ?/. 6 3 c.355G>A r.(?) p.(Gly119Ser) - likely benign, likely pathogenic, pathogenic, VUS g.123663402G>A g.122742247G>A BBS12(NM_152618.3):c.355G>A (p.G119S), c.355G>A, [G119S;Y263H]+[=], [p.Y317C];[p.Y317C] - 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
-/. 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
+?/., ?/. 3 3 c.476C>T r.(?) p.(Pro159Leu) - likely pathogenic, unclassified, VUS g.123663523C>T - c.476C>T, [p.E61K] - BBS12_000116 normal 2nd chromosome PubMed: Chen-2011, PubMed: Imhoff-2011, PubMed: Muller-2010, PubMed: Stoetzel 2007 - - 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
+/. 1 - c.670dup r.(?) p.(Thr224AsnfsTer12) - pathogenic g.123663717dup g.122742562dup - - BBS12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 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
+?/., -?/. 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 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) - chr4_004620 - 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
+?/., ?/. 2 3 c.1037T>C r.(?) p.(Ile346Thr) - likely pathogenic, VUS g.123664084T>C - c.1037T>C, [p.L125R] - BBS12_000120 normal 2nd chromosome PubMed: Imhoff-2011, PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline, Unknown - - - - - LOVD
+?/. 2 - c.1055A>C r.(?) p.(Gln352Pro) - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - 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
+/., +?/. 5 2, 3 c.1063C>T c.1063C>T, r.(?) p.(Arg355*) ACMG likely pathogenic, pathogenic g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*), BBS12;NM_001178007.1, c.1063C>T, 1 more item - BBS12_000099 homozygous, homozygous; sister is also homozygous PubMed: Ellingford 2016, PubMed: Jiman 2020, PubMed: Manara 2019, PubMed: Schaefer-2011, 1 more item - rs121918327 Germline ?, 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 - chr4_004623 - 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
-/. 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
+/., +?/., ?/. 9 2, 3 c.1115_1116del r.(?) p.(Phe372*), p.(Phe372Ter) - likely pathogenic, pathogenic, VUS g.123664162_123664163del g.122743007_122743008del c.1114delTT, c.1114_1115del, c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans), F372fsX373, 2 more items - BBS12_000008 no variant 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Alvarez-Satta-2014, PubMed: Bravo-Gil 2017, PubMed: Hariri 2018, 2 more items - - CLASSIFICATION record, Germline ?, 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 - chr4_004624 - PubMed: Alvarez-Satta-2014 - - Germline - 0/100 chromosomes - - - 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
-?/. 1 - c.1207G>A r.(?) p.(Val403Met) - likely benign g.123664254G>A g.122743099G>A BBS12(NM_001178007.1):c.1207G>A (p.V403M) - BBS12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 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
-/. 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) - chr4_004622 - 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
-/. 2 - 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
+/., +?/. 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
+/., +?/. 3 3 c.1502C>T r.(?) p.(Thr501Met) - likely pathogenic, pathogenic g.123664549C>T - c.1502C>T, [p.R355Q];[p.R355Q], [T501M]+[R525H] - BBS12_000124 - PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Muller-2010, PubMed: Stoetzel 2007 - - 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 3 c.1507G>A r.(?) p.(Val503Met) - likely pathogenic g.123664554G>A - c.1507G>A(h) - chr4_004621 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
+/. 1 3 c.1574G>A r.(?) p.(Arg525His) - pathogenic g.123664621G>A - [T501M]+[R525H] - BBS12_000141 - PubMed: Billingsley-2010 - - Germline - - - - - LOVD
+/. 2 3 c.1589T>C r.(?) p.(Leu530Pro) - pathogenic g.123664636T>C - 1589T/C (L530P) - BBS12_000101 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - LOVD
-?/. 1 - c.1611T>C r.(?) p.(Leu537=) - likely benign g.123664658T>C g.122743503T>C BBS12(NM_001178007.1):c.1611T>C (p.L537=) - BBS12_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 3 c.1616G>A r.(?) p.(Gly539Asp) - likely pathogenic, pathogenic (recessive) g.123664663G>A - (c.2023C > T; p.Arg675X), c.1616G>A/p.(Gly539Asp), p.Gly539Asp - BBS12_000110 - PubMed: Alvarez-Satta-2014, PubMed: Anasagasti-2013, PubMed: Deveault-2011 - - Germline, Unknown yes - - - - LOVD
+/. 1 3 c.1616G>T r.(?) p.(Gly539Val) - pathogenic g.123664663G>T g.122743508G>T - - BBS12_000041 - PubMed: Li 2017 - - Germline yes - - - - James Hejtmancik
+/. 1 3 c.1619G>A r.(?) p.(Gly540Asp) - pathogenic g.123664666G>A - p.G540D (c.1620 G>A) - BBS12_000126 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - - - LOVD
+/. 1 3 c.1619G>T r.(?) p.(Gly540Val) - pathogenic g.123664666G>T g.122743511G>T G540V - BBS12_000014 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1681_1683del r.(?) p.(Glu561del) - VUS g.123664728_123664730del g.122743573_122743575del BBS12(NM_001178007.1):c.1681_1683delGAA (p.E561del) - BBS12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1702T>C r.(?) p.(Trp568Arg) - likely benign g.123664749T>C - BBS12(NM_001178007.1):c.1702T>C (p.W568R) - BBS12_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.1733C>A r.(?) p.(Ser578*) - likely pathogenic g.123664780C>A - M390R/E384X - BBS12_000142 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
+?/. 1 3 c.1779_1780insA r.(?) p.(Gly594Argfs*12) - likely pathogenic g.123664826_123664827insA - c.1779insA - BBS12_000127 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - LOVD
+/. 1 - c.1793A>G r.(?) p.(Tyr598Cys) - pathogenic g.123664840A>G g.122743685A>G BBS12(NM_152618.3):c.1793A>G (p.Y598C) - BBS12_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.1847G>A r.(?) p.(Ser616Asn) - benign g.123664894G>A g.122743739G>A BBS12(NM_001178007.1):c.1847G>A (p.S616N) - BBS12_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.1859A>G r.(?) p.(Gln620Arg) - VUS g.123664906A>G g.122743751A>G BBS12(NM_001178007.1):c.1859A>G (p.Q620R) - BBS12_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 3 - c.1872A>G r.(?) p.(Gln624=) - benign g.123664919A>G g.122743764A>G BBS12(NM_001178007.1):c.1872A>G (p.Q624=) - BBS12_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
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