ClinVar Genomic variation as it relates to human health
NM_024649.5(BBS1):c.1606A>G (p.Lys536Glu)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
BBS1 | - | - |
GRCh38 GRCh37 |
440 | 1084 | |
ZDHHC24 | - | - | - |
GRCh38 GRCh37 |
14 | 656 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BBS1-related disorder
|
Uncertain significance (1) |
|
Feb 7, 2024 | RCV003967276.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024