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 NM_001178007.1 transcript reference sequence.

218 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.-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.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
?/. - 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.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
-?/. - 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
+/. - 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_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.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
?/. - 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
-?/. - 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
-?/. 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
+?/. 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) - chr4_004620 - 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
+?/. - 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 - - - 0 - LOVD
+?/. - 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 - - - 0 - LOVD
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T g.122742955C>T - - BBS12_000099 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+/. 2 c.1063C>T c.1063C>T p.(Arg355*) ACMG pathogenic g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*) - BBS12_000099 homozygous PubMed: Manara 2019 - rs121918327 Germline ? - - 0 - LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) - 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 - LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Schaefer-2011 - - Germline - - - 0 - LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[=] - BBS12_000133 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - [p.M390R];[p.N524del] - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. - c.1067T>G r.(?) p.(Ile356Arg) - VUS g.123664114T>G g.122742959T>G - - BBS12_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 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 - 0 - LOVD
+/. 3 c.1092del r.(?) p.(Glu365Argfs*18) - pathogenic g.123664139del g.122742984del E365fsX382 - BBS12_000016 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - 0 - Johan den Dunnen
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. - 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_AMC
+/. 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. - 0 - LOVD
+/. 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. - 0 - LOVD
+/. 3 c.1115_1116del r.(?) p.(Phe372*) - pathogenic g.123664162_123664163del g.122743007_122743008del F372fsX373 - BBS12_000008 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - 0 - Johan den Dunnen
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