ClinVar Genomic variation as it relates to human health
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BBS9 | - | - |
GRCh38 GRCh37 |
1030 | 1065 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2012 | RCV000024320.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022
NCBI staff reviewed the sequence information reported in PubMed 22353939 Table 2 to determine the location of this deletion on the current reference sequence.
7.2 kb genomic deletion from BBS9 (PTHB1), resulting in deletion of exon 6 plus flanking intronic sequences.