Full data view for gene BBS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024649.4 transcript reference sequence.

303 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.(1169T>G) r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G BBS1 p.M390R - BBS1_000001 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P27 PubMed: Jacobson 2014 - M - United States - - - - - 1 LOVD
+?/. - c.(1169T>G) r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G BBS1 p.M390R - BBS1_000001 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P28 PubMed: Jacobson 2014 - F - United States - - - - - 1 LOVD
+?/. - c.(1169T>G) r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G BBS1 p.M390R - BBS1_000001 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P29 PubMed: Jacobson 2014 - F - United States - - - - - 1 LOVD
+?/. - c.(1169T>G) r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G BBS1 p.M390R - BBS1_000001 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P30 PubMed: Jacobson 2014 - M - United States - - - - - 1 LOVD
+?/. - c.(1169T>G) r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G BBS1 p.M390R - BBS1_000001 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P31 PubMed: Jacobson 2014 - F - United States - - - - - 1 LOVD
+/. 12 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G g.66526181T>G M390R - BBS1_000001 - PubMed: Nishimura 2010 - - Unknown - - - - - DNA SEQ - - BBS - - 4-generation family, 1 affected - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - Sharon, submitted - - Germline - - - - - DNA SEQ - - BBS - Sharon, submitted - M yes Israel Morocco;Jewish - - - - 1 Dror Sharon
+/. - c.1169T>G r.(?) p.(Met390Arg) Maternal (confirmed) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Tavares 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - BBS gene panel, WGS BBS 30484961-Fam PubMed: Tavares 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Canada - - - - - 1 Johan den Dunnen
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - VUS g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - likely pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R) - BBS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Holtan 2020 - - Germline - 4/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 4 homozygous patients - - Norway - - - - - 4 Global Variome, with Curator vacancy
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G - - - BBS1_000001 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G - - - BBS1_000001 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic (recessive) g.66293652T>G - - - BBS1_000001 Compound heterozygous with c.1040del Doucette 2021, submitted - rs113624356 Germline yes 0.001512 - - - DNA SEQ-NG - WES BBS1 M59 II-1 Doucette 2021, submitted affected male of a 3 sibling family, 2 affected brothers, 1 unaffected sister, parents both unaffected indicating likely recessive inheritance, or X-linked given the sex difference M no Canada - - - - - 2 Lance P Doucette
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic (recessive) g.66293652T>G - - - BBS1_000001 - Doucette 2021, submitted - rs113624356 Germline yes 0.0015 - - - DNA SEQ-NG - WES BBS1 M59 II-2 Doucette 2021, submitted affected sibling in a 3 generation family, two affected brothers, one unaffected sister, parents are unaffected indicating either X-linked or autosomal recessive modes of inheritance M no Canada - - - Yes - 1 Lance P Doucette
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240051 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240073 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004718 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005000 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007690 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G - 11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg) - BBS1_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007741 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - VUS g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Bryant 2018 - rs113624356 Germline - - - - - DNA SEQ-NG - WES retinal disease JB307 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - VUS g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD6–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 3 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 4 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 5 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 258 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 259 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 343 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 598 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 599 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 600 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 601 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 602 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 603 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 604 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 605 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 606 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 607 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 608 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - 4 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 609 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 610 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1845 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8355 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 9834 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1845 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Parent #2 - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Lindstrand 2016 - rs113624356 Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR380-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Paternal (confirmed) - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Lindstrand 2016 - rs113624356 Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR240-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Parent #2 - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Lindstrand 2016 - rs113624356 Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR246-03 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12003699 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13013491 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13000497 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 95 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Parent #1 - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 488 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. 12 c.1169T>G r.(1169u>g) p.(Met390Arg) Maternal (confirmed) - pathogenic (recessive) g.66293652T>G - - - BBS1_000001 - PubMed: Fadaie 2022 - - Germline yes - - - - DNA SEQ-NG - - RP FamAPatII2 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister M no Netherlands - - - - - 1 Zeinab Fadaie
+/. 12 c.1169T>G r.(1169u>g) p.(Met390Arg) Paternal (confirmed) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Fadaie 2022 - - Germline - - - - - DNA SEQ-NG - - RP FamBPatII1 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - 1 Zeinab Fadaie
+/. 12 c.1169T>G r.(1169u>g) p.(Met390Arg) Paternal (confirmed) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Fadaie 2022 - - Germline yes - - - - DNA SEQ-NG - - RP FamCPatII1 PubMed: Fadaie 2022 - M no Ireland - - - - - 1 Zeinab Fadaie
+/. 12 c.1169T>G r.(1169u>g) p.(Met390Arg) Paternal (inferred) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Fadaie 2022 - - Germline ? - - - - DNA SEQ-NG - - RP FamDPatII1 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother F no England - - - - - 1 Zeinab Fadaie
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp124 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-431-918 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic (recessive) g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-309-723 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G g.66526181T>G M390R - BBS1_000001 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-0622PatII7 PubMed: Sanchez-Alcudia 2014 aunt F - Spain - - - - - 1 LOVD
?/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - VUS g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Wang 2014 - rs113624356 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 65 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - 1169T/G (M390R) - BBS1_000001 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - - - - 1 LOVD
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - 1169T/G (M390R) - BBS1_000001 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - - - - 1 LOVD
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - 1169T/G (M390R) - BBS1_000001 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes - North European - - - - 1 LOVD
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - 1169T/G (M390R) - BBS1_000001 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes - North European - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G - c.[1169T>G]+[1169T>G] - BBS1_000001 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G - c.[1169T>G]+[1169T>G] - BBS1_000001 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 13 c.1169T>G r.? p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 patient carry mutation known cause other retinal diseases. BBS - no - - - - - - 1 Julia Lopez
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg), c.1473+4A>G, p.(?) - BBS1_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 41 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) ACMG pathogenic g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg), c.1169T>G, p.(Met390Arg) - BBS1_000001 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 42 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg), c.1110+3G>C, p.(?) - BBS1_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 43 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg) - BBS1_000001 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 344 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg) - BBS1_000001 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 345 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1169T>G r.(?) p.(Met390Arg) Unknown ACMG pathogenic g.66293652T>G g.66526181T>G RPE65 c.130C>T, p.(Arg44*), BBS1 c.1169T>G, p.(Met390Arg) - BBS1_000001 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 462 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic (recessive) g.66293652T>G - p.Met390Arg - BBS1_000001 - PubMed: Anasagasti-2013 - rs113624356 Germline yes <0.01 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic (recessive) g.66293652T>G - Met390Arg - BBS1_000001 - PubMed: Anasagasti-2013 - rs113624356 Germline yes <0.01 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - VUS g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Hichri-2005 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - - - - 1 LOVD
?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - VUS g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Hichri-2005 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - - - - 1 LOVD
?/. 13 c.1169T>G r.(?) p.(Met390Arg) Unknown - VUS g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Hichri-2005 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - - - - 1 LOVD
?/. 13 c.1169T>G r.(?) p.(Met390Arg) Unknown - VUS g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Hichri-2005 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - - - - 1 LOVD
?/. 13 c.1169T>G r.(?) p.(Met390Arg) Unknown - VUS g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Hichri-2005 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Unknown - likely pathogenic g.66293652T>G - M390R/N524del† - BBS1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - M - - - - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G - M390R - BBS1_000001 - PubMed: Gerth-2008 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Gerth-2008 - F - - - - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Parent #2 - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010 - - - - white - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Parent #2 - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010, Beales 2003 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010, Beales 2003 - - - - white - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Parent #2 - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010, Katsanis 2000 - - Germline - - - - - DNA ? blood ASPER microarray retinal disease - PubMed: Muller-2010, Katsanis 2000 - - - - white - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Parent #2 - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010 - - - - white - - - - 1 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Parent #2 - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010 - - - - white - - - - 3 LOVD
+?/. 13 c.1169T>G r.(?) p.(Met390Arg) Both (homozygous) - likely pathogenic g.66293652T>G - c.1169T>G - BBS1_000001 - PubMed: Muller-2010, Mykytyn 2002 - - Germline - - - - - DNA SEQ blood Direct digestion retinal disease - PubMed: Muller-2010, Mykytyn 2002 - - - - white - - - - 23 LOVD
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