ClinVar Genomic variation as it relates to human health
NM_014625.4(NPHS2):c.62_63insG (p.His21fs)
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 | |||
NPHS2 | - | - |
GRCh38 GRCh37 |
346 | 558 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 26, 2022 | RCV002871139.2 | |
Likely pathogenic (1) |
|
Dec 31, 2022 | RCV003465848.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024