ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
PAX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
173 | 226 | |
MBIP | - | - |
GRCh38 GRCh37 |
13 | 46 | |
MIPOL1 | - | - |
GRCh38 GRCh37 |
37 | 82 | |
NKX2-1 | - | - |
GRCh38 GRCh37 |
2 | 366 | |
NKX2-8 | - | - |
GRCh38 GRCh37 |
31 | 71 | |
PTCSC3 | - | - |
GRCh38 GRCh37 |
- | 31 | |
SFTA3 | - | - |
GRCh38 GRCh37 |
- | 330 | |
SLC25A21 | - | - |
GRCh38 GRCh37 |
103 | 168 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 15, 2002 | RCV000009535.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023