ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_21755681)_(22266301_?)del
Germline
Classification
(1)
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 | |||
PHEX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
819 | 1467 | |
SMS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
131 | 303 | |
MBTPS2 | - | - |
GRCh38 GRCh37 |
153 | 341 | |
SMPX | - | - |
GRCh38 GRCh37 |
68 | 230 | |
YY2 | - | - |
GRCh38 GRCh37 |
- | 180 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2021 | RCV001870831.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 24, 2022