ClinVar Genomic variation as it relates to human health
NM_004646.4(NPHS1):c.103del (p.Trp35fs)
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 | |||
KIRREL2 | - | - |
GRCh38 GRCh37 |
51 | 230 | |
NPHS1 | - | - |
GRCh38 GRCh37 |
1666 | 1849 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2023 | RCV003707497.1 | |
Likely pathogenic (1) |
|
Jan 17, 2024 | RCV004573243.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024