ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_44296792)_(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 |
273 | 395 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
85 | 197 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
58 | 172 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1132 | 1273 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
CBS | - | - |
GRCh38 GRCh37 |
1282 | 1377 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
354 | 507 | |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1834 | 3012 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1779 | 1891 |
There are 52 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) |
|
Aug 23, 2022 | RCV004579375.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024