All 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.

192 entries on 2 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.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - M390R/M390R - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. 1 c.-1503delC r.(?) p.? - VUS g.122792971delG - BBS7: c.-1503delC - BBS7_000068 - PubMed: M'hamdi-2014 - - Germline - - - 0 - LOVD
+/. 1 c.? r.(?) p.? - pathogenic g.122792971delG - c.-1503delC - BBS7_000068 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - LOVD
-/. - c.-133C>G r.(?) p.(=) - benign g.122791601G>C g.121870446G>C - - BBS7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.14T>A r.(?) p.(Leu5*) - pathogenic g.122791455A>T g.121870300A>T - - BBS7_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.36+20C>T r.spl p.? - VUS g.122791413G>A g.121870258G>A - - BBS7_000062 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.87_88del r.(?) p.(His29Glnfs*12) ACMG pathogenic g.122789150_122789151del - c.87_88delCA - BBS7_000055 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.87_88del r.(?) p.(His29GlnfsTer12) - pathogenic g.122789153_122789154del g.121867998_121867999del c.87_88delCA - BBS7_000055 - PubMed: Lindstrand 2016 - - Germline - - - 0 - LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - LOVD
-/. - c.166-45C>T r.(?) p.(=) - benign g.122782879G>A g.121861724G>A - - BBS7_000102 - PubMed: Smaoui 2006 - - Germline - 6/19 families BBS - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.171G>A r.(?) p.(Val57=) - likely benign g.122782829C>T g.121861674C>T BBS7(NM_176824.2):c.171G>A (p.V57=) - BBS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 4 c.171G>A r.(=) p.(=) - VUS g.122782829C>T - *p.[V57V]+[=] - BBS7_000018 - PubMed: Bin-2009 - - Germline - - - 0 - LOVD
+?/. 4 c.171G>A r.(=) p.(=) - likely pathogenic g.122782829C>T - [p.T501M];[p.R525H - BBS7_000018 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
-/. - c.171G>A r.(?) p.(Val57=) - benign g.122782829C>T - BBS7(NM_176824.2):c.171G>A (p.V57=) - BBS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. 4 c.187G>A r.(?) p.(Gly63Arg) - likely pathogenic g.122782813C>T - p.[G63R]+ - BBS7_000080 - PubMed: Bin-2009 - - Germline yes - - 0 - LOVD
+?/. 4 c.187G>A r.(?) p.(Gly63Arg) - likely pathogenic g.122782813C>T - p.[G63R]+ - BBS7_000080 - PubMed: Bin-2009 - - Germline yes - - 0 - LOVD
+/. 4 c.? r.(?) p.? - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - LOVD
+/. 4 c.? r.(?) p.? - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - LOVD
-?/. - 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
+/. 4 c.196A>T r.(?) p.(Ile66Phe) - pathogenic g.122782804T>A - c.196A>T - BBS7_000072 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
+/. - c.198T>G r.(?) p.(Ile66Met) - pathogenic (recessive) g.122782802A>C g.121861647A>C - - BBS7_000066 - PubMed: Consugar 2015 - - Germline yes - - 0 - LOVD
+?/. 4 c.198T>G r.(?) p.(Ile66Met) - likely pathogenic g.122782802A>C - c.198T>G - BBS7_000066 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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 - - - 0 - VKGL-NL_AMC
?/. - c.280A>T r.(?) p.(Thr94Ser) - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.280A>T r.(?) p.(Thr94Ser) - likely benign g.122782720T>A - BBS7(NM_176824.2):c.280A>T (p.T94S) - BBS7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - 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 - - - 0 - VKGL-NL_Groningen
+/. 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 ? - - 0 - LOVD
+/. - 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 - - 0 - LOVD
?/. - 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
+?/. 4 c.340A>G r.(?) p.(Met114Val) - likely pathogenic g.122782660T>C - c.340A>G - BBS7_000079 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - 0 - LOVD
+/. - c.389_390del r.(?) p.(Asn130Thrfs*4) - pathogenic g.122780285_122780286del g.121859130_121859131del - - BBS7_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224530 Germline - 1/2791 individuals - 0 - Mohammed Faruq
+/. 5 c.389_390del r.(?) p.(Asn130Thrfs*4) - pathogenic (recessive) g.122780285_122780286del - c.[389_390del];[389_390del] - BBS7_000051 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 5 c.389_390del r.(?) p.(Asn130Thrfs*4) - pathogenic (recessive) g.122780285_122780286del - c.[389_390del];[389_390del] - BBS7_000051 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+?/. - 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 - - 0 - LOVD
+?/. - 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 - - 0 - LOVD
+?/. - 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 - - 0 - LOVD
?/. - 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 - - - 0 - VKGL-NL_Leiden
?/. - c.442A>C r.(?) p.(Asn148His) - VUS g.122780233T>G g.121859078T>G - - BBS7_000060 - PubMed: Lindstrand 2016 - - Germline - - - 0 - LOVD
+?/. - c.500_501insTATGAG r.(?) p.(Cys167_Gln168insMetSer) - likely pathogenic (recessive) g.122780175_122780176insTCATAC g.121859020_121859021insTCATAC - - BBS7_000057 - PubMed: Taylor 2017 - - Germline - - - 0 - LOVD
+/. 5i c.528+1G>A r.spl? p.? - pathogenic g.122780146C>T - c.528+1G>A - BBS7_000078 - PubMed: Muller-2010 - - Germline - - - 0 - LOVD
-/. - c.528+173C>G r.(?) p.(=) - benign g.122779974= g.121858819= - - BBS7_000101 - PubMed: Smaoui 2006 - rs2661555 Germline - 6/19 families BBS - 0 - Johan den Dunnen
?/. 5i c.529-99T>A r.(=) p.(=) - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - LOVD
?/. 5i c.529-99T>A r.(=) p.(=) - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - LOVD
?/. 5i c.529-99T>A r.(=) p.(=) - unclassified g.122776815A>T - c.529-99T>A - BBS7_000087 - PubMed: Abu-Safieh-2012 - - Germline - - - 0 - LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - LOVD
+/. 6 c.580_582del r.(?) p.(Ala194del) - pathogenic g.122776663_122776665del - c.580_582delGCA - BBS7_000090 - PubMed: Ullah-2017 - - Germline yes - - 0 - LOVD
+?/. - c.598G>T r.(?) p.(Gly200Cys) - likely pathogenic g.122776647C>A g.121855492C>A - - BBS7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 6i c.601+2 T>C r.spl? p.? - likely pathogenic g.122776642A>G - [G201_D202ins15or16]** - BBS7_000077 - PubMed: Bin-2009 - - Germline yes - - 0 - LOVD
+?/. 6i c.601+2 T>C r.spl? p.? - likely pathogenic g.122776642A>G - [G201_D202ins15or16]** - BBS7_000077 - PubMed: Bin-2009 - - Germline yes - - 0 - LOVD
+?/. 6i c.IVS6+2T>C r.spl? p.? - likely pathogenic g.122776642A>G - [p.Q293E];[p.F372XfsX1] - BBS7_000077 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 6i c.IVS6+2T>C r.spl? p.? - likely pathogenic g.122776642A>G - M390R/M390R - BBS7_000077 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.602-2A>T r.spl p.? - likely pathogenic g.122775977T>A g.121854822T>A - - BBS7_000064 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+?/. - c.602-2A>T r.spl p.? - likely pathogenic g.122775977T>A g.121854822T>A - - BBS7_000064 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+?/. 6i c.602-2A>T r.spl? p.? - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
+?/. 6i c.602-2A>T r.spl? p.? - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
+?/. 6i c.602-2A>T r.spl? p.? - likely pathogenic g.122775977T>A - c.602-2A>T no RNA available - BBS7_000064 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
+?/. - c.602-2A>T r.spl p.? - likely pathogenic g.122775977T>A g.121854822T>A BBS7 c.602-2A>T, p.? - BBS7_000064 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. - c.602-2A>T r.spl p.? - likely pathogenic g.122775977T>A g.121854822T>A BBS7 c.602-2A>T, p.? - BBS7_000064 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) - likely pathogenic g.122775945G>A - T211I - BBS7_000076 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+?/. 7 c.632C>T r.(?) p.(Thr211Ile) - likely pathogenic g.122775945G>A - c.632C>T - BBS7_000076 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
-?/. - 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
+?/. 7 c.640G>A r.(?) p.(Gly214Arg) - likely pathogenic g.122775937C>T - c.640G>A - BBS7_000086 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+/. 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 - 0 - LOVD
+?/. 7 c.710_713delAGAG r.(?) p.(Arg238Glufs*59) - unclassified g.122775864_122775867delCTCT - c.710_713delAGAG - BBS7_000085 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) - pathogenic g.122775864_122775867del g.121854709_121854712del - - BBS7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) - pathogenic (recessive) g.122775864_122775867del g.121854709_121854712del 712_715delAGAG - BBS7_000024 - PubMed: Ece Solmaz 2015 - - Germline - - - 0 - LOVD
+/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) - pathogenic g.122775862_122775865del - 711_714delGAGA (R238fsX296) - BBS7_000024 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - LOVD
+?/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) - likely pathogenic g.122775862_122775865del - p.[R238EfsX59]+ - BBS7_000024 - PubMed: Bin-2009 - - Germline - - - 0 - LOVD
+?/. - c.712_715del r.(?) p.(Arg238Glufs*59) - likely pathogenic g.122775864_122775867del g.121854709_121854712del BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R - BBS7_000024 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) - pathogenic g.122774232C>T - c.728G>A - BBS7_000071 - PubMed: Wang-2013 - - Unknown - - - 0 - LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - LOVD
+/. 8 c.728G>A r.(?) p.Cys243Tyr - pathogenic g.122774232C>T - p.C243Y - BBS7_000071 - PubMed: Hirano 2015 - - Germline - - - 0 - LOVD
+?/. - c.728G>A r.(?) p.(Cys243Tyr) - likely pathogenic g.122774232C>T g.121853077C>T BBS7 p.C243Y, homo - BBS7_000071 no c. position written in publication, probable position given - RCV001384254.1 PubMed: Hirano 2020 - - Germline ? - - 0 - LOVD
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) ACMG pathogenic g.122774232C>T g.121853077C>T BBS7 c.728G > A, p.C243Y - BBS7_000071 heterozygous PubMed: Meng 2021 - rs727503821 Germline yes - - 0 - LOVD
+/. 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 - - 0 - LOVD
+?/. - 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 ? - - 0 - LOVD
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. 8 c.838C>T r.(?) p.(Arg280*) - likely pathogenic g.122774122G>A - c.838C>T - BBS7_000084 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+/. - c.849+1G>T r.spl p.? - pathogenic (recessive) g.122774110C>A g.121852955C>A g.17543G>T - BBS7_000049 - - - - Germline - - - 0 - Evren Gümüş
+?/. - c.849+1G>T r.spl p.(?) - likely pathogenic g.122774110C>A g.121852955C>A BBS7* (NM_176824) (LOVD#0000638713), c.849+1G > T, Splice site - BBS7_000049 homozygous PubMed: Gumus 2021 - - Germline ? - - 0 - LOVD
+/. 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 - - - 0 - Johan den Dunnen
+/. - c.878A>C r.(?) p.(Gln293Pro) - pathogenic g.122770055T>G g.121848900T>G - - BBS7_000059 - PubMed: Lindstrand 2016 - - Germline - - - 0 - LOVD
+/. 9 c.878A>C r.(?) p.(Gln293Pro) - pathogenic g.122770055T>G - c.878A>C(H) - BBS7_000059 Family AR14 (A2824) has previously been published for a heterozygous change in BBS12 (p.G540D) present in individual ‘-04’ (but not ‘-08’) by Stoetzel et al. 2007 PubMed: Janssen-2011 - - Germline - 0.046 - 0 - LOVD
+?/. 9 c.878A>C r.(?) p.(Gln293Pro) - likely pathogenic g.122770055T>G - c.878A>C(h) - BBS7_000059 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 4.6% ; absent in 96 controls - 0 - LOVD
+?/. - 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 - - 0 - LOVD
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