ClinVar Genomic variation as it relates to human health
NM_020791.4(TAOK1):c.1263_1264dup (p.Pro422fs)
Germline
Classification
(2)
Likely pathogenic
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 | |||
TAOK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
181 | 194 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 8, 2022 | RCV002468804.4 | |
DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
|
Pathogenic (1) |
|
May 22, 2023 | RCV003234593.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024