ClinVar Genomic variation as it relates to human health
NM_004646.4(NPHS1):c.163_164insA (p.Val55fs)
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 | |||
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) |
|
Sep 12, 2023 | RCV003572094.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024