ClinVar Genomic variation as it relates to human health
NM_133443.4(GPT2):c.1037+5G>C
Germline
Classification
(2)
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 | |||
GPT2 | - | - |
GRCh38 GRCh37 |
98 | 126 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
GPT2-related neurodevelopmental disorder
|
not provided (1) |
|
- | RCV002509012.1 |
Uncertain significance (1) |
|
Oct 26, 2023 | RCV002569420.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024