ClinVar Genomic variation as it relates to human health
NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del)
Germline
Classification
(1)
Uncertain significance
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 | |||
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
272 | 681 | |
LOC130056709 | - | - | - |
GRCh38 GRCh38 |
- | 178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 17, 2023 | RCV003603968.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024