ClinVar Genomic variation as it relates to human health
NC_000005.10:g.(?_218349)_(1297373_?)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 | |||
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2959 | 3391 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 231 | |
BRD9 | - | - |
GRCh38 GRCh37 |
29 | 187 | |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 234 | |
EXOC3 | - | - |
GRCh38 GRCh37 |
50 | 202 | |
EXOC3-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 150 |
NKD2 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 210 | |
PDCD6 | - | - |
GRCh38 GRCh37 |
- | 171 | |
SDHA | - | - |
GRCh38 GRCh37 |
2684 | 2843 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 15, 2019 | RCV001032442.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023