ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_43160998)_(47865240_?)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 | |||
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
277 | 399 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
85 | 197 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
52 | 140 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
62 | 176 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1134 | 1275 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
C2CD2 | - | - |
GRCh38 GRCh37 |
43 | 124 | |
CBS | - | - |
GRCh38 GRCh37 |
1285 | 1380 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
360 | 515 |
There are 66 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) |
|
Jul 30, 2021 | RCV001956307.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024