ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_33096991)_(33124599_?)del
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 | |||
CRTAP | - | - |
GRCh38 GRCh37 |
575 | 654 | |
GLB1 | - | - |
GRCh38 GRCh37 |
1038 | 1143 | |
LOC129936434 | - | - | - | GRCh38 | - | 65 |
LOC129936435 | - | - | - | GRCh38 | - | 6 |
LOC129936436 | - | - | - | GRCh38 | - | 64 |
LOC129936437 | - | - | - | GRCh38 | - | 8 |
TMPPE | - | - | - |
GRCh38 GRCh37 |
- | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2018 | RCV000792790.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023