ClinVar Genomic variation as it relates to human health
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
PHEX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
819 | 1467 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 3, 2021 | RCV003108250.3 | |
Pathogenic (1) |
|
Nov 1, 2023 | RCV003575034.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024