Full data view for gene BBS9

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_198428.2 transcript reference sequence.

323 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-407C>G r.(?) p.(=) Unknown - benign g.33169258C>G g.33129646C>G - - BBS9_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-12+2T>C r.spl? p.? Unknown - likely pathogenic g.33169655T>C - - - BBS9_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12+7T>C r.(=) p.(=) Unknown - benign g.33169660T>C g.33130048T>C - - BBS9_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-513_(112+1_113-1){2} r.? p.? Unknown - VUS g.(?_33134409)_(33185977_33192312) - chr7:33134841-33185981 - RP9_000025 variant identified in 5 unrelated patients PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15009450 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - Intragenic deletion of 31,275 bp (p.G767_P840del) - EZH2_000001 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - - - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.S35X Both (homozygous) - pathogenic g.? - [S35X]+[S35X] - EZH2_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Hispanic - - - - 1 LOVD
+/. - c.? r.(?) p.G539D Parent #1 - pathogenic g.? - [G539D]+[P632FfsX7] - EZH2_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Hispanic - - - - 1 LOVD
+/. - c.? r.(?) p.P632FfsX7 Parent #2 - pathogenic g.? - [G539D]+[P632FfsX7] - EZH2_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Hispanic - - - - 1 LOVD
+/. - c.? r.(?) p.L88R Parent #1 - pathogenic g.? - [L88R]+[N461KfsX10] - EZH2_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Hispanic - - - - 1 LOVD
+/. - c.? r.(?) p.N461KfsX10 Parent #2 - pathogenic g.? - [L88R]+[N461KfsX10] - EZH2_000001 - PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Hispanic - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.G119S; p.Y263H] - EZH2_000001 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - South African Black/European/Asian - - - - 1 LOVD
+/. 21 c.? r.(?) p.? Unknown - pathogenic g.? - NM_198428:c.2390_2393delAACA(h) - BBS9_000145 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR847(A2877)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 21 c.? r.(?) p.? Unknown - pathogenic g.? - NM_198428:c.2390_2393delAACA(h) - BBS9_000145 - PubMed: Janssen-2011 - - Germline - - - - - DNA SEQ, HD - SEQ or HD retinal disease AR847(A2877)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+?/. 23 c.? r.(?) p.? Unknown - likely pathogenic g.? - c.2849T>A(h) - BBS9_000145 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 0.9% ; absent in 96 controls - - - DNA SEQ - - retinal disease A2499 PubMed: Janssen-2011 - - - - - - - - - 1 LOVD
+?/. 23 c.? r.(=) p.? Unknown - likely pathogenic g.? - c.2983C>T(h) - BBS9_000145 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 6.2% ; absent in 96 controls - - - DNA SEQ - - retinal disease A3260-II1 PubMed: Janssen-2011 - - - United States - - - - - 1 LOVD
?/. - c.? r.spl p.(?) Unknown - VUS g.33134160_33186226dup - BBS9 chr7:33134160_33186226dup - BBS9_000145 duplication of RP9 but more importantly of BBS9 ex1-2! Ex 2 is the first coding exon and is out of frame, unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-390 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.8del r.(?) p.(Leu3TyrfsTer38) Unknown ACMG pathogenic g.33185872del g.33146260del BBS9 c.6_6delT, p.L3Yfs*38 - BBS9_000177 c.6_6delT automapped to c.8del, heterozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K26 PubMed: Zacchia 2021 - M - (Italy) - - - - - 1 LOVD
-/. - c.34A>G r.(?) p.(Thr12Ala) Unknown - benign g.33185898A>G g.33146286A>G BBS9(NM_198428.3):c.34A>G (p.T12A) - BBS9_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58T>G r.(?) p.(Phe20Val) Unknown - VUS g.33185922T>G g.33146310T>G BBS9(NM_198428.3):c.58T>G (p.F20V) - BBS9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.74del r.(?) p.(Leu25Cysfs*16) Paternal (inferred) ACMG pathogenic g.33185938del g.33146326del BBS9 c.72delT, p.L25Cfs*16 - BBS9_000173 heterozygous PubMed: Meng 2021 - - Germline yes - - - - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F10-II:1 PubMed: Meng 2021 - M no China - - - - - 1 LOVD
+/. - c.104_112+4del r.(?) p.Asn35*) Both (homozygous) - pathogenic (recessive) g.33185968_33185980del g.33146356_33146368del 102_112+2delAAATGGACAAGGT - BBS9_000132 - PubMed: Ece Solmaz 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat13 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - 1 LOVD
-/. - c.113-14del r.(=) p.(=) Unknown - benign g.33192299del g.33152687del BBS9(NM_198428.3):c.113-14delT - BBS9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113-14T>A r.(=) p.(=) Unknown - likely benign g.33192299T>A g.33152687T>A BBS9(NM_198428.3):c.113-14T>A, BBS9(NM_198428.3):c.113-14_113-13delTAinsAA - BBS9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113-11del r.(=) p.(=) Unknown - likely benign g.33192302del g.33152690del BBS9(NM_198428.3):c.113-11delA - BBS9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113-8C>T r.(=) p.(=) Unknown - likely benign g.33192305C>T g.33152693C>T BBS9(NM_001033604.1):c.113-8C>T (p.(=)) - BBS9_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.113-2A>G r.spl? p.? Parent #1 - pathogenic (recessive) g.33192311A>G - c.[113-2A>G];[263+4A>G] - BBS9_000186 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 25 gestation weeks M - France - - - - - 1 LOVD
+?/. - c.115A>G r.(?) p.(Lys39Glu) Unknown ACMG likely pathogenic g.33192315A>G g.33152703A>G BBS9 c.115A>G, p.(Lys39Glu) - BBS9_000136 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 357 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.150G>C r.(?) p.(Arg50Ser) Unknown - VUS g.33192350G>C g.33152738G>C BBS9(NM_198428.2):c.150G>C (p.R50S) - BBS9_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.190C>T r.(?) p.(Gln64*) Unknown - likely pathogenic g.33192390C>T - c.190C>T - BBS9_000155 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+/. 3 c.190C>T r.(?) p.(Gln64*) Unknown - pathogenic g.33192390C>T - c.190C> T - BBS9_000155 - PubMed: Jeziorny-2020 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Jeziorny-2020 - M - - - - - - - 1 LOVD
+/. 3 c.190C>T r.(?) p.(Gln64*) Unknown - pathogenic g.33192390C>T - c.190C>T - BBS9_000155 - PubMed: Jeziorny-2020 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Jeziorny-2020 - F - - - - - - - 1 LOVD
?/. - c.205C>A r.(?) p.(Leu69Ile) Unknown - VUS g.33192405C>A g.33152793C>A BBS9(NM_198428.2):c.205C>A (p.L69I) - BBS9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.223C>T r.(?) p.(Arg75Ter) Unknown - pathogenic g.33192423C>T g.33152811C>T BBS9(NM_198428.3):c.223C>T (p.R75*) - BBS9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223C>T r.(?) p.(Arg75*) Unknown ACMG likely pathogenic g.33192423C>T g.33152811C>T BBS9 c.223C>T, p.(Arg75*) - BBS9_000034 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 358 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 3 c.242T>A r.(?) p.(Val81Glu) Both (homozygous) - pathogenic g.33192442T>A - c.242T>A - BBS9_000150 - PubMed: Muller-2010 - - Germline - - - - - DNA arraySNP, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - white - - - - 1 LOVD
+?/. - c.263C>A r.(?) p.(Ser88*) Parent #1 - likely pathogenic g.33192463C>A g.33152851C>A - - BBS9_000121 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs749974697 Germline - 1/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.263C>A r.(?) p.(Ser88Ter) Unknown - likely pathogenic g.33192463C>A g.33152851C>A - - BBS9_000121 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG2231 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 3 c.263C>T r.(?) p.(Ser88Leu) Unknown - pathogenic (recessive) g.33192463C>T g.33152851C>T - - BBS9_000199 - - - - Germline/De novo (untested) - - - - - DNA arraySEQ - - RP R2011 - - F yes Israel Iraq;Jew - - - - 1 Tamar Ben-Yosef
+/. 3i c.263+1G>A r.776_777insATAA p.? Both (homozygous) - pathogenic g.33192464G>A - c.263+1G>A/r.776_777insATAA - BBS9_000169 - PubMed: Fattahi 2014 - - Germline - - - - - DNA, RNA SEQ, RT-PCR blood - retinal disease - PubMed: Fattahi-2014 - - yes - Turk - - - - 1 LOVD
+?/. - c.263+1G>T r.spl p.(?) Parent #1 - likely pathogenic g.33192464G>T g.33152852G>T BBS9, variant 1: c.263+1G>T/p.?, variant 2: c.263+1G>T/p.? - BBS9_000172 different transcript used in the paper, NM_001033604.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 76 PubMed: Weisschuh 2020 Filing key number: 40, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.263+1G>T r.spl p.(?) Parent #1 - likely pathogenic g.33192464G>T g.33152852G>T BBS9, variant 1: c.263+1G>T/p.?, variant 2: c.263+1G>T/p.? - BBS9_000172 different transcript used in the paper, NM_001033604.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 77 PubMed: Weisschuh 2020 Filing key number: 40, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 3i c.263+2del r.spl p.? Maternal (confirmed) ACMG pathogenic g.33192465del g.33152853del BBS9 c.263 + 2delT - BBS9_000174 heterozygous PubMed: Meng 2021 - - Germline yes - - - - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F9-II:1 PubMed: Meng 2021 - M no China - - - - - 1 LOVD
+/. 3i c.263+4A>G r.spl? p.? Parent #2 - pathogenic (recessive) g.33192467A>G - c.[113-2A>G];[263+4A>G] - BBS9_000187 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 25 gestation weeks M - France - - - - - 1 LOVD
+?/. - c.(263+1_264-1)_(328+1_329-1)del r.? p.(Gly89Asnfs*4) Both (homozygous) - likely pathogenic g.? - c.(263+1_264-1)_(328+1_329-1)del - EZH2_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.287C>G r.(?) p.(Ala96Gly) Unknown - VUS g.33195273C>G - BBS9(NM_001348038.2):c.14C>G (p.A5G) - BBS9_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Khan 2016 - - Germline yes - - - - DNA arraySNP, STR, SEQ blood - retinal disease IV:4 PubMed: Khan 2016 - M yes - Pakistani - - - - 1 LOVD
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Khan 2016 - - Germline yes - - - - DNA arraySNP, STR, SEQ blood - retinal disease IV:5 PubMed: Khan 2016 - F yes - Pakistani - - - - 1 LOVD
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Muzammal 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease A_IV-4 PubMed: Muzammal 2019 Family A M yes - Pakistani - - - - 1 LOVD
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Muzammal 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease A_IV-2 PubMed: Muzammal 2019 Family A M yes - Pakistani - - - - 1 LOVD
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Muzammal 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease A_IV-5 PubMed: Muzammal 2019 Family A M yes - Pakistani - - - - 1 LOVD
+?/. 4 c.299delC r.(?) p.(Ser100Leufs*24) Both (homozygous) - likely pathogenic (recessive) g.33195285del g.33155673del BBS9 c.299delC (p.Ser100Leufs*24) - BBS9_000191 homozygous PubMed: Muzammal 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease B_V-1 PubMed: Muzammal 2019 Family B M yes - Pakistani - - - - 1 LOVD
+/. - c.310del r.(?) p.(Cys104ValfsTer20) Unknown ACMG pathogenic g.33195296del g.33155684del BBS9 c.175del, p.C59fs*20 - BBS9_000178 different transcript, NM_001348042.2(BBS9):c.175del, p.(Cys59Valfs*20), heterozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K131 PubMed: Zacchia 2021 - - - (Italy) - - - - - 1 LOVD
-?/. - c.328+16_328+27del r.(=) p.(=) Unknown - likely benign g.33195330_33195341del g.33155718_33155729del BBS9(NM_198428.3):c.328+16_328+27delACCAATGTAGAA - BBS9_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+18C>T r.(=) p.(=) Unknown - likely benign g.33195332C>T - BBS9(NM_001348038.3):c.55+18C>T, BBS9(NM_198428.3):c.328+18C>T - BBS9_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+18C>T r.(=) p.(=) Unknown - likely benign g.33195332C>T - BBS9(NM_001348038.3):c.55+18C>T, BBS9(NM_198428.3):c.328+18C>T - BBS9_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.329-7del r.(=) p.(=) Unknown - benign g.33217083del g.33177471del BBS9(NM_198428.3):c.329-7del, BBS9(NM_198428.3):c.329-7delT - BBS9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-7del r.(=) p.(=) Unknown - likely benign g.33217083del - BBS9(NM_198428.3):c.329-7del, BBS9(NM_198428.3):c.329-7delT - BBS9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.329-7dup r.(=) p.(=) Unknown - benign g.33217083dup g.33177471dup BBS9(NM_198428.3):c.329-7dup, BBS9(NM_198428.3):c.329-7dupT - BBS9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-7dup r.(=) p.(=) Unknown - likely benign g.33217083dup - BBS9(NM_198428.3):c.329-7dup, BBS9(NM_198428.3):c.329-7dupT - BBS9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.329-7T>C r.(=) p.(=) Unknown - benign g.33217083T>C g.33177471T>C BBS9(NM_198428.3):c.329-7T>C - BBS9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-6C>T r.(=) p.(=) Unknown - likely benign g.33217084C>T g.33177472C>T BBS9(NM_001033604.1):c.329-6C>T (p.(=)), BBS9(NM_198428.2):c.329-6C>T - BBS9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-6C>T r.(=) p.(=) Unknown - likely benign g.33217084C>T g.33177472C>T BBS9(NM_001033604.1):c.329-6C>T (p.(=)), BBS9(NM_198428.2):c.329-6C>T - BBS9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-5C>T r.spl? p.? Unknown - likely benign g.33217085C>T g.33177473C>T BBS9(NM_001033604.1):c.329-5C>T (p.?) - BBS9_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-2A>T r.spl? p.? Unknown - likely benign g.33217088A>T g.33177476A>T BBS9(NM_001033604.1):c.329-2A>T (p.?) - BBS9_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-1G>T r.spl? p.? Unknown - likely benign g.33217089G>T g.33177477G>T BBS9(NM_001033604.1):c.329-1G>T (p.?) - BBS9_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5_20 c.329_2298del1970 r.(?) p.? Both (homozygous) - likely pathogenic g.33217090_33545257del1970 - K41fsX52/K41fsX52 - BBS9_000156 - PubMed: Deveault-2011 - - Unknown - - - - - ? ? blood - retinal disease - PubMed: Deveault-2011 - - - - French - - - - 1 LOVD
?/. - c.330A>T r.(?) p.(Gly110=) Unknown - VUS g.33217091A>T g.33177479A>T BBS9(NM_001033604.1):c.330A>T (p.(=)) - BBS9_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390T>C r.(?) p.(Asn130=) Unknown - likely benign g.33217151T>C - BBS9(NM_001348038.3):c.117T>C (p.N39=) - BBS9_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.396G>C r.(?) p.(Gln132His) Unknown - pathogenic g.33217157G>C - c.396G>C - BBS9_000157 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - white - - - - 1 LOVD
?/. 5 c.409A>C r.(?) p.(Asn137His) Parent #1 - VUS g.33217170A>C - c.409A>C - BBS9_000194 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 5 c.421G>A r.(?) p.(Gly141Arg) Both (homozygous) - likely pathogenic g.33217182G>A - 421G>A - BBS9_000143 - PubMed: Nishimura-2005 - - Germline yes 0/110 unrelated controls - - - DNA arraySNP blood - retinal disease - PubMed: Nishimura-2005 - - - - - - - - - 2 LOVD
+?/. 6 c.432delA r.(?) p.(Lys144Asnfs*15) Paternal (confirmed) - likely pathogenic (recessive) g.27706499del g.27483632del IFT172 c.432delA, p.Lys144Asnfs*15 - IFT172_000155 heterozygous PubMed: Halbritter 2013 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted or exome sequencing SRTD10 NPH2218 PubMed: Halbritter 2013 - F no - Hungarian - - - - 1 LOVD
?/. - c.442G>C r.(?) p.(Gly148Arg) Unknown - VUS g.33217203G>C g.33177591G>C BBS9(NM_198428.3):c.442G>C (p.G148R) - BBS9_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.442+1G>C r.spl? p.? Unknown - likely pathogenic g.33217204G>C - IVS5+1G>C - BBS9_000144 - PubMed: Nishimura-2005 - - Germline yes 0/110 unrelated controls - - - DNA arraySNP blood - retinal disease - PubMed: Nishimura-2005 - F - - - - - - - 1 LOVD
+?/. - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.G148_V234del Both (homozygous) - likely pathogenic g.? - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del) - EZH2_000001 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.G148_V234del Both (homozygous) - likely pathogenic g.? - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del) - EZH2_000001 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.G148_V234del Both (homozygous) - likely pathogenic g.? - c.(443-1675_443-1116)_(618-986_618-508)del r.442+3_704del p.(G148_V234del) - EZH2_000001 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
-?/. - c.443-8T>C r.(=) p.(=) Unknown - likely benign g.33296840T>C g.33257228T>C BBS9(NM_198428.2):c.443-8T>C - BBS9_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.445C>T r.(?) p.(Arg149*) Paternal (confirmed) ACMG pathogenic g.33296850C>T g.33257238C>T BBS9 c.445C > T, p.R149* - BBS9_000175 heterozygous PubMed: Meng 2021 - rs781174906 Germline yes - - - - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F9-II:1 PubMed: Meng 2021 - M no China - - - - - 1 LOVD
+/. 6 c.462C>G r.(?) p.(Ile154Met) Both (homozygous) - pathogenic g.33296867C>G - c.462C>G - BBS9_000151 - PubMed: Muller-2010 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - white - - - - 2 LOVD
-?/. - c.531C>A r.(?) p.(Gly177=) Unknown - likely benign g.33296936C>A g.33257324C>A BBS9(NM_198428.2):c.531C>A (p.G177=) - BBS9_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>A r.(?) p.(Leu180=) Unknown - likely benign g.33296945G>A g.33257333G>A BBS9(NM_198428.2):c.540G>A (p.L180=) - BBS9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542C>G r.(?) p.(Pro181Arg) Both (homozygous) - pathogenic g.33296947C>G g.33257335C>G - - BBS9_000129 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
-/. - c.555C>T r.(?) p.(Ala185=) Unknown - benign g.33296960C>T g.33257348C>T BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=) - BBS9_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>T r.(?) p.(Ala185=) Unknown - likely benign g.33296960C>T g.33257348C>T BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=) - BBS9_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>T r.(?) p.(Ala185=) Unknown - likely benign g.33296960C>T - BBS9(NM_198428.2):c.555C>T (p.A185=), BBS9(NM_198428.3):c.555C>T (p.A185=) - BBS9_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.586_587del r.(?) p.(Val196LeufsTer10) Unknown ACMG pathogenic g.33296991_33296992del g.33257379_33257380del BBS9 c.585_586del, p.V196LFs*10 - BBS9_000179 different transcript, NM_001348040.2(BBS9):(automapped) c.586_587del, p.(Val196Leufs*10), heterozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K73 PubMed: Zacchia 2021 - F - (Italy) - - - - - 1 LOVD
+/. - c.597C>A r.(?) p.(Cys199Ter) Unknown - pathogenic g.33297002C>A g.33257390C>A BBS9(NM_001348038.3):c.324C>A (p.C108*) - BBS9_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.618-54T>G r.(=) p.(=) Unknown - VUS g.33303848T>G - g.33303848T>G - BBS9_000201 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
-/. - c.618-18T>A r.(=) p.(=) Unknown - benign g.33303884T>A g.33264272T>A BBS9(NM_198428.3):c.618-18T>A - BBS9_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.618-1G>T r.spl? p.? Unknown - pathogenic g.33303901G>T - BBS9(NM_198428.3):c.618-1G>T - BBS9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.618_702del r.618_702del p.? Both (homozygous) - likely pathogenic g.33303902_33303986del - r.618_702del - BBS9_000146 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
-/. - c.621C>T r.(?) p.(Tyr207=) Unknown - benign g.33303905C>T g.33264293C>T BBS9(NM_198428.3):c.621C>T (p.Y207=) - BBS9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.666T>A r.(?) p.(Thr222=) Unknown - pathogenic g.33303950T>A g.33264338T>A - - BBS9_000128 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat1 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+/. 7i_9i c.(?_703-1)_(1016+1_?)del r.spl? p.? Both (homozygous) - pathogenic g.33312623_33313569del - Del exon 8+9 - BBS9_000152 - PubMed: Muller-2010 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - Turkish - - - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; single carrier, all siblings wild type, but some overweight, the patient morbidly obese; heterozygous PubMed: Stone 2000 - - Germline/De novo (untested) ? - - - - DNA RFLP blood - obesity F85-51 PubMed: Andersen 2005 Family F-85, individual 51 F - - - - - - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - - - DNA RFLP blood - obesity F1159-5 PubMed: Andersen 2005 Family F1159, individual 5 (proband) M - - - - - - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - - - DNA RFLP blood - obesity F1159-1 PubMed: Andersen 2005 Family F1159, individual 1 (proband's father) M - - - - - - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - - - DNA RFLP blood - obesity F1159-2 PubMed: Andersen 2005 Family F1159, individual 2 (proband's mother) F - - - - - - - 1 LOVD
+/. 8 c.727G>A r.(?) p.(Glu243Lys) Parent #1 - pathogenic (recessive) g.33312648G>A - c.[727G>A];[1792C>T] - BBS9_000188 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ? - France - - - - - 1 LOVD
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