Unique variants in the BBS7 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176824.2 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+?/. 4 - c.? r.(?) p.? - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
?/. 1 1 c.-1503delC r.(?) p.? - VUS g.122792971delG - BBS7: c.-1503delC - BBS7_000068 - PubMed: M'hamdi-2014 - - Germline - - - - - LOVD
+/. 1 1 c.? r.(?) p.? - pathogenic g.122792971delG - c.-1503delC - BBS7_000068 - PubMed: M'hamdi 2014 - - Unknown - - - - - LOVD
-/. 1 - c.-133C>G r.(?) p.(=) - benign g.122791601G>C g.121870446G>C - - BBS7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.14T>A r.(?) p.(Leu5*) - pathogenic g.122791455A>T g.121870300A>T - - BBS7_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.36+20C>T r.spl p.? - VUS g.122791413G>A g.121870258G>A - - BBS7_000062 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
+/. 1 - c.37del r.(?) p.(Val13TrpfsTer3) - pathogenic g.122789202del g.121868047del BBS7(NM_176824.2):c.37delG (p.V13Wfs*3) - BBS7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 2 c.87_88del r.(?) p.(His29Glnfs*12), p.(His29GlnfsTer12) ACMG pathogenic g.122789150_122789151del, g.122789153_122789154del g.121867998_121867999del c.87_88delCA, c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand 2016, PubMed: Lindstrand-2014, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
-/. 1 - c.166-45C>T r.(?) p.(=) - benign g.122782879G>A g.121861724G>A - - BBS7_000102 - PubMed: Smaoui 2006 - - Germline - 6/19 families BBS - - - Johan den Dunnen
-?/. 1 - c.166-5T>C r.spl? p.? - likely benign g.122782839A>G g.121861684A>G BBS7(NM_176824.3):c.166-5T>C - BBS7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., -/., -?/., ?/. 4 4 c.171G>A r.(=), r.(?) p.(=), p.(Val57=) - benign, likely benign, likely pathogenic, VUS g.122782829C>T g.121861674C>T *p.[V57V]+[=], BBS7(NM_176824.2):c.171G>A (p.V57=), [p.T501M];[p.R525H - BBS7_000018 VKGL data sharing initiative Nederland PubMed: Bin-2009, PubMed: Deveault-2011 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.186C>T r.(?) p.(Pro62=) - benign g.122782814G>A g.121861659G>A BBS7(NM_176824.2):c.186C>T (p.P62=) - BBS7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 2 4 c.187G>A r.(?) p.(Gly63Arg) - likely pathogenic g.122782813C>T - p.[G63R]+ - BBS7_000080 - PubMed: Bin-2009 - - Germline yes - - - - LOVD
+/. 2 4 c.? r.(?) p.? - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - LOVD
-?/. 1 - c.191C>T r.(?) p.(Pro64Leu) - likely benign g.122782809G>A - BBS7(NM_176824.3):c.191C>T (p.P64L) - BBS7_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.196A>T r.(?) p.(Ile66Phe) - pathogenic g.122782804T>A - c.196A>T - BBS7_000072 - PubMed: Hichri-2005 - - Unknown - - - - - LOVD
+/., +?/. 2 4 c.198T>G r.(?) p.(Ile66Met) - likely pathogenic, pathogenic (recessive) g.122782802A>C g.121861647A>C c.198T>G - BBS7_000066 - PubMed: Consugar 2015, PubMed: Feuillan-2011 - - Germline yes - - - - LOVD
?/. 1 - c.218G>T r.(?) p.(Gly73Val) - VUS g.122782782C>A g.121861627C>A BBS7(NM_176824.2):c.218G>T (p.G73V) - BBS7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.241A>G r.(?) p.(Lys81Glu) - VUS g.122782759T>C g.121861604T>C BBS7(NM_176824.2):c.241A>G (p.K81E) - BBS7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.280A>T r.(?) p.(Thr94Ser) - likely benign, VUS g.122782720T>A g.121861565T>A BBS7(NM_176824.2):c.280A>T (p.T94S) - BBS7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.281C>T r.(?) p.(Thr94Ile) - VUS g.122782719G>A g.121861564G>A BBS7(NM_176824.3):c.281C>T (p.T94I) - BBS7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 4 c.288_289del r.(?) p.(Gly97Lysfs*7) ACMG pathogenic g.122782713_122782714del g.121861558_121861559del NM_176824.2:c.288_289del, NP_789794.1:p.(Gly97LysfsTer7), NC_000004.11:g.122782713_122782714del - BBS7_000070 - PubMed: Wang 2018 - - Germline ? - - - - LOVD
+/. 1 - c.288_289delAG r.(?) p.(Gly97Lysfs*7) ACMG pathogenic (recessive) g.122782713_122782714del g.121861558_121861559del c.288_289delAG, p.G97Kfs*7 - BBS7_000070 Compound heterozygous PubMed: Tao 2020 - - Germline yes - - - - LOVD
?/. 1 - c.300C>G r.(?) p.(Phe100Leu) - VUS g.122782700G>C g.121861545G>C BBS7(NM_176824.2):c.300C>G (p.F100L) - BBS7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 4 c.340A>G r.(?) p.(Met114Val) - likely pathogenic g.122782660T>C - c.340A>G - BBS7_000079 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - LOVD
+/. 3 5 c.389_390del r.(?) p.(Asn130Thrfs*4) - pathogenic, pathogenic (recessive) g.122780285_122780286del g.121859130_121859131del c.[389_390del];[389_390del] - BBS7_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Mary-2019, PubMed: Narang 2020, Journal: Narang 2020 - rs863224530 Germline - 1/2791 individuals - - - Mohammed Faruq
+?/. 3 - c.389_390delAC r.(?) p.(Asn130Thrfs*4) - likely pathogenic g.122780285_122780286del g.121859130_121859131del BBS7 c.389_390delAC, p.Asn130ThrfsX3 - BBS7_000051 homozygous PubMed: Shen 2019 - - Germline yes - - - - LOVD
?/. 1 - c.416A>T r.(?) p.(His139Leu) - VUS g.122780259T>A g.121859104T>A BBS7(NM_018190.3):c.416A>T (p.(His139Leu)) - BBS7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.442A>C r.(?) p.(Asn148His) - VUS g.122780233T>G g.121859078T>G - - BBS7_000060 - PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
+?/. 1 - c.500_501insTATGAG r.(?) p.(Cys167_Gln168insMetSer) - likely pathogenic (recessive) g.122780175_122780176insTCATAC g.121859020_121859021insTCATAC - - BBS7_000057 - PubMed: Taylor 2017 - - Germline - - - - - LOVD
+/. 1 5i c.528+1G>A r.spl? p.? - pathogenic g.122780146C>T - c.528+1G>A - BBS7_000078 - PubMed: Muller-2010 - - Germline - - - - - LOVD
-/. 1 - c.528+173C>G r.(?) p.(=) - benign g.122779974= g.121858819= - - BBS7_000101 - PubMed: Smaoui 2006 - rs2661555 Germline - 6/19 families BBS - - - Johan den Dunnen
?/. 3 5i c.529-99T>A r.(=) p.(=) - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - - - LOVD
+/. 3 6 c.580_582del r.(?) p.(Ala194del) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - - - LOVD
+?/. 1 - c.598G>T r.(?) p.(Gly200Cys) - likely pathogenic g.122776647C>A g.121855492C>A - - BBS7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 6i c.601+2 T>C r.spl? p.? - likely pathogenic g.122776642A>G - [G201_D202ins15or16]** - BBS7_000077 - PubMed: Bin-2009 - - Germline yes - - - - LOVD
+?/. 2 6i c.IVS6+2T>C r.spl? p.? - likely pathogenic g.122776642A>G - M390R/M390R, [p.Q293E];[p.F372XfsX1] - BBS7_000077 - PubMed: Deveault-2011 - - Unknown - - - - - LOVD
+?/. 7 6i c.602-2A>T r.spl, r.spl? p.? - likely pathogenic g.122775977T>A g.121854822T>A BBS7 c.602-2A>T, p.?, c.602-2A>T no RNA available - BBS7_000064 homozygous PubMed: Abu-Safieh-2012, PubMed: Aldahmesh 2014, PubMed: Patel 2016 - - Germline ? 0/96 ethnically matched controls - - - LOVD
+?/. 4 7 c.632C>T r.(?) p.(Thr211Ile) - likely pathogenic g.122775945G>A - c.632C>T, T211I - BBS7_000076 - PubMed: Chen-2011, PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - - - LOVD
-?/. 1 - c.639C>T r.(?) p.(Asp213=) - likely benign g.122775938G>A g.121854783G>A BBS7(NM_176824.2):c.639C>T (p.D213=) - BBS7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 7 c.640G>A r.(?) p.(Gly214Arg) - likely pathogenic g.122775937C>T - c.640G>A - BBS7_000086 - PubMed: Feuillan-2011 - - Germline - - - - - LOVD
+/. 1 7 c.688T>C r.(?) p.(Trp230Arg) - pathogenic g.122775889A>G - 688T/C (W320R) - BBS7_000067 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - LOVD
+?/. 1 7 c.710_713delAGAG r.(?) p.(Arg238Glufs*59) - unclassified g.122775864_122775867delCTCT - c.710_713delAGAG - BBS7_000085 - PubMed: Chen-2011 - - Germline - - - - - LOVD
+/., +?/. 5 7 c.712_715del r.(?) p.(Arg238Glufs*59), p.(Arg238GlufsTer59) - likely pathogenic, pathogenic, pathogenic (recessive) g.122775862_122775865del, g.122775864_122775867del g.121854709_121854712del 711_714delGAGA (R238fsX296), 712_715delAGAG, p.[R238EfsX59]+, 1 more item - BBS7_000024 possibly solved, compound heterozygous, VKGL data sharing initiative Nederland PubMed: Bin-2009, PubMed: Ece Solmaz 2015, PubMed: Harville-2010, PubMed: Weisschuh 2020 - - CLASSIFICATION record, Germline, Unknown ? 0/90 ethnically matched controls - - - VKGL-NL_Nijmegen
+/., +?/. 8 8 c.728G>A r.(?) p.(Cys243Tyr), p.Cys243Tyr ACMG likely pathogenic, pathogenic g.122774232C>T g.121853077C>T BBS7 c.728G > A, p.C243Y, BBS7 p.C243Y, homo, c.728G>A, p.C243Y, p.Cys243Tyr - BBS7_000071 heterozygous, no c. position written in publication, probable position given - RCV001384254.1 PubMed: Hirano 2015, PubMed: Hirano 2020, PubMed: Knopp 2015, PubMed: Meng 2021, PubMed: Wang-2013 - rs727503821 Germline, Unknown ?, yes - - - - LOVD
+/. 1 8 c.763A>T c.763A>T p.(Lys255*) ACMG pathogenic g.122774197T>A g.121853042T>A BBS7 c.763A>T, p.(Lys255*) - BBS7_000075 homozygous PubMed: Manara 2019 - - Germline yes - - - - LOVD
+?/. 1 - c.790G>A r.(?) p.(Gly264Arg) - likely pathogenic g.122774170C>T g.121853015C>T BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R - BBS7_000092 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.799G>A r.(?) p.(Glu267Lys) - VUS g.122774161C>T g.121853006C>T BBS7(NM_176824.2):c.799G>A (p.E267K) - BBS7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 8 c.838C>T r.(?) p.(Arg280*) - likely pathogenic g.122774122G>A - c.838C>T - BBS7_000084 - PubMed: Feuillan-2011 - - Germline - - - - - LOVD
+/., +?/. 2 - c.849+1G>T r.spl p.(?), p.? - likely pathogenic, pathogenic (recessive) g.122774110C>A g.121852955C>A BBS7* (NM_176824) (LOVD#0000638713), c.849+1G > T, Splice site, g.17543G>T - BBS7_000049 homozygous PubMed: Gumus 2021 - - Germline ? - - - - Evren Gümüş
+/. 1 5i_15i c.(849+1_850-1)_(1676+1_1677-1)del r.? p.(Met284Lysfs*7) - pathogenic (recessive) g.(122749884_122754385)_(122770084_122774110)del g.(121828729_121833230)_(121848929_121852955)del del ex9-15 .47247455_47267458del20004insATA - BBS7_000097 - PubMed: Smaoui 2006 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 9 c.878A>C r.(?) p.(Gln293Pro) - likely pathogenic, pathogenic g.122770055T>G g.121848900T>G c.878A>C(H) - BBS7_000059 unknown variant 2nd chromosome, 1 more item PubMed: Janssen-2011, PubMed: Lindstrand 2016 - - Germline - 0.046, 4.6% ; absent in 96 controls - - - LOVD
+?/. 1 - c.896_897del r.(?) p.(Lys299Argfs*4) ACMG likely pathogenic g.122770038_122770039del g.121848883_121848884del BBS7, c.896_897delAA, p.Lys299Argfs*4, compound heterozygous - BBS7_000096 - PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
+?/. 1 - c.934G>A r.(?) p.(Gly312Ser) - likely pathogenic g.122769999C>T g.121848844C>T BBS7(NM_018190.3):c.934G>A (p.(Gly312Ser)) - BBS7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.934+31_934+34del r.(?) p.(=) - benign g.122769969_122769972del g.121848814_121848817del NM_018190:934+31delAAGA - BBS7_000100 - PubMed: Smaoui 2006 - - Germline - 5/19 families BBS - - - Johan den Dunnen
-/., ?/. 4 9i c.934+32A>G r.(=), r.(?) p.(=) - benign, unclassified g.122769967T>C g.121848812T>C c.934+32A>G - BBS7_000083 - PubMed: Abu-Safieh-2012, PubMed: Abu-Safieh-2012, Abu-Safieh 2010, PubMed: Smaoui 2006 - rs6824258 Germline - 4/19 families BBS - - - Johan den Dunnen
+/. 1 - c.949C>G r.(?) p.(Leu317Val) - pathogenic (recessive) g.122768647G>C g.121847492G>C - - BBS7_000063 - PubMed: Ece Solmaz 2015 - - Germline - - - - - LOVD
+?/. 3 - c.968A>G r.(?) p.(His323Arg) - likely pathogenic g.122768628T>C g.121847473T>C BBS7 c.968A>G p.(His323Arg), BBS7(NM_176824.3):c.968A>G (p.H323R), 1 more item - BBS7_000091 homozygous, solved, homozygous, VKGL data sharing initiative Nederland PubMed: Méjécase 2020, PubMed: Weisschuh 2020 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Utrecht
+/. 1 - c.991G>T r.(?) p.(Glu331Ter) - pathogenic g.122768605C>A g.121847450C>A BBS7(NM_176824.2):c.991G>T (p.E331*) - BBS7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 10 c.1002del r.(?) p.(Asn335Ilefs*47) ACMG pathogenic g.122768594delA, g.122768595del g.121847440del BBS7 c.1002delT, p.N335Ifs*47, c.1002delT(p.Ile334Ilefs*15), 1 more item - BBS7_000069 homozygous PubMed: Chen-2013, PubMed: Meng 2021, PubMed: Wang 2018 - - Germline ?, yes - - - - LOVD
+/. 2 - c.1002delT r.(?) p.(Asn335Ilefs*47) ACMG pathogenic (recessive) g.122768595del g.121847440del c.1002delT, p.N335Ifs, c.1002delT, p.N335Ifs*47 - BBS7_000069 Compound heterozygous, Homozygous PubMed: Tao 2020 - - Germline yes - - - - LOVD
-/. 1 - c.1041T>C r.(?) p.(=) - benign g.122766848A>G g.121845693A>G - - BBS7_000099 - PubMed: Smaoui 2006 - - Germline - 1/19 families BBS - - - Johan den Dunnen
?/. 1 - c.1043A>G r.(?) p.(Glu348Gly) - VUS g.122766846T>C g.121845691T>C BBS7(NM_176824.2):c.1043A>G (p.E348G) - BBS7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1062_1063del r.(?) p.(Tyr354Ter) - pathogenic g.122766828_122766829del - BBS7(NM_176824.2):c.1062_1063delTA (p.Y354*) - BBS7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.1089T>A r.(?) p.(Tyr363Ter) - pathogenic g.122766800A>T - BBS7(NM_176824.2):c.1089T>A (p.Y363*) - BBS7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1094A>T r.(?) p.(Gln365Leu) - VUS g.122766795T>A - BBS7(NM_176824.2):c.1094A>T (p.Q365L) - BBS7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1097C>A r.(?) p.(Ser366Tyr) - likely benign g.122766792G>T g.121845637G>T BBS7(NM_176824.2):c.1097C>A (p.S366Y) - BBS7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 11 c.1121C>G r.(?) p.(Ser374*) - likely pathogenic g.122766768G>C - [Ser374X] - BBS7_000074 - PubMed: Bin-2009 - - Germline - - - - - LOVD
-/. 1 - c.1158A>G r.(?) p.(Thr386=) - benign g.122766731T>C g.121845576T>C BBS7(NM_176824.2):c.1158A>G (p.T386=) - BBS7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ./., ?/. 6 12 c.1235A>G r.(?) p.(Asp412Gly) - likely benign, pathogenic, VUS g.122765152T>C g.121843997T>C BBS7(NM_176824.2):c.1235A>G (p.D412G), BBS7(NM_176824.3):c.1235A>G (p.D412G), BBS7:p.[D412G];[=] - BBS7_000006 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 2 more items PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Redin-2012 - rs111442398 CLASSIFICATION record, Germline - 1/2795 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.1237G>A r.(?) p.(Val413Ile) - VUS g.122765150C>T g.121843995C>T BBS7(NM_176824.3):c.1237G>A (p.V413I) - BBS7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1305+12T>C r.(=) p.(=) - benign g.122765070A>G g.121843915A>G BBS7(NM_176824.2):c.1305+12T>C - BBS7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 13 c.1342_1346del r.(?) p.(Gln448Argfs*13) - pathogenic g.122760811_122760815del - c.1342_1346delCAGGC - BBS7_000089 - PubMed: Fattahi 2014 - - Germline - - - - - LOVD
+?/. 1 - c.1372-1G>C r.spl p.(?) ACMG likely pathogenic g.122756439C>G g.121835284C>G BBS7, c.1372-1G>C, p.?, compound heterozygous - BBS7_000095 - PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
+?/., ?/. 2 - c.1375C>T r.(?) p.(Arg459Cys) ACMG likely pathogenic, VUS g.122756435G>A g.121835280G>A BBS7 c.1375C>T, p.(Arg459Cys), BBS7(NM_176824.2):c.1375C>T (p.R459C) - BBS7_000039 single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_AMC
+/. 1 14 c.1395T>A r.(?) p.(Tyr465*) ACMG pathogenic g.122756415A>T g.121835260A>T BBS7 c.1395T > A, p.Y465* - BBS7_000093 heterozygous PubMed: Meng 2021 - - Germline yes - - - - LOVD
+/. 1 14 c.1443T>A r.(?) p.(Cys481*) - pathogenic g.122756367A>T - c.1443T>A - BBS7_000088 - PubMed: Fattahi 2014 - - Germline - - - - - LOVD
-?/. 1 - c.1450C>T r.(?) p.(Arg484Cys) - likely benign g.122756360G>A g.121835205G>A BBS7(NM_018190.3):c.1450C>T (p.(Arg484Cys)) - BBS7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 14 c.1462_1463del r.(?) p.(Ile488Glnfs*13) - likely pathogenic g.122756347_122756348del - c.1462_1463delAT - BBS7_000082 - PubMed: Feuillan-2011 - - Germline - - - - - LOVD
-/. 2 - c.1505A>G r.(?) p.(His502Arg) - benign g.122756305T>C g.121835150T>C BBS7(NM_176824.2):c.1505A>G (p.H502R), BBS7(NM_176824.3):c.1505A>G (p.H502R) - BBS7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1511+25C>A r.(?) p.(=) - benign g.122756274G>T g.121835119G>T - - BBS7_000098 - PubMed: Smaoui 2006 - - Germline - 2/19 families BBS - - - Johan den Dunnen
-/., -?/. 2 - c.1512-7A>T r.(=) p.(=) - benign, likely benign g.122754557T>A g.121833402T>A BBS7(NM_176824.2):c.1512-7A>T, BBS7(NM_176824.3):c.1512-7A>T - BBS7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1535C>T r.(?) p.(Thr512Ile) - VUS g.122754527G>A g.121833372G>A BBS7(NM_176824.2):c.1535C>T (p.T512I) - BBS7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 15 c.1580dupT r.(?) p.Cys527TrpfsX4 - likely pathogenic g.122754482dupA - c.1580dupT - BBS7_000081 T not found at position 1764, found G instead. PubMed: Feuillan-2011 - - Germline - - - - - LOVD
?/. 1 - c.1586C>G r.(?) p.(Pro529Arg) - VUS g.122754476G>C - BBS7(NM_176824.3):c.1586C>G (p.P529R) - BBS7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 5 15 c.1592_1597del r.(?) p.(Val531_Pro532del) - pathogenic g.122754465_122754470del, g.122754467_122754472del g.121833312_121833317del c.1592_1597delTTCCAG - BBS7_000048 VKGL data sharing initiative Nederland PubMed: Ullah-2017 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1611A>G r.(?) p.(Ala537=) - likely benign g.122754451T>C g.121833296T>C BBS7(NM_176824.2):c.1611A>G (p.A537=) - BBS7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1653T>A r.(?) p.(Asp551Glu) - likely benign g.122754409A>T g.121833254A>T BBS7(NM_176824.3):c.1653T>A (p.D551E) - BBS7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1677-490_1802delinsTGTTTAA r.? p.? - pathogenic g.122749645_122750373delinsTTAAACA - del exon16_17 122749644-122750374del - BBS7_000058 730 bp deletion, 7 bp insertion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
-/. 1 - c.1677-258dup r.(=) p.(=) - benign g.122750143dup g.121828988dup BBS7(NM_176824.3):c.1677-258dupT - CCNA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 5 - c.1677-1G>A r.spl, r.spl? p.? - likely pathogenic (recessive) g.122749884C>T g.121828729C>T - - BBS7_000036 - PubMed: Shaukat 2019 - - Germline yes - - - - Sadaf Naz
?/. 1 - c.1712_1713delinsAGA r.(?) p.(Ser571*) - VUS g.122749847_122749848delinsTCT g.121828692_121828693delinsTCT - - BBS7_000061 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
-?/. 1 16 c.1721C>G r.(?) p.(Ser574Cys) - likely benign g.122749839G>C - c.1721C>G - BBS7_000073 - PubMed: Muller-2010 - - Germline - - - - - LOVD
+/., +?/. 3 16 c.1786G>A r.(?) p.(Glu596Lys) ACMG likely pathogenic, pathogenic g.122749774C>T - 1786G/A (E596K) - BBS7_000054 - PubMed: Harville-2010, PubMed: Sharon 2019 - - Germline - 0/90 ethnically matched controls, 1/2420 IRD families - - - Global Variome, with Curator vacancy
?/. 1 - c.1787-10C>G r.(=) p.(=) - VUS g.122749670G>C g.121828515G>C BBS7(NM_176824.2):c.1787-10C>G - CCNA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1787-1G>A r.spl? p.? - pathogenic g.122749661C>T g.121828506C>T BBS7(NM_176824.2):c.1787-1G>A - BBS7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1787-1G>C r.spl p.? - pathogenic (recessive) g.122749661C>G g.121828506C>G - - BBS7_000065 - PubMed: Consugar 2015 - - Germline yes - - - - LOVD
-?/. 1 - c.1890+9_1890+10del r.(=) p.(=) - likely benign g.122749547_122749548del g.121828392_121828393del BBS7(NM_176824.2):c.1890+9_1890+10delAT - CCNA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1890+16G>A r.(=) p.(=) - benign g.122749541C>T g.121828386C>T BBS7(NM_176824.2):c.1890+16G>A, BBS7(NM_176824.3):c.1890+16G>A - BBS7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 3 - c.1891-12C>A r.(=) p.(=) - benign g.122749436G>T g.121828281G>T BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A - BBS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »