ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_137143759)_(138202456_?)del
Germline
Classification
(2)
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 | |||
IFNGR1 | - | - |
GRCh38 GRCh37 |
353 | 370 | |
IL20RA | - | - |
GRCh38 GRCh37 |
25 | 48 | |
IL22RA2 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
LINC02539 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
OLIG3 | - | - |
GRCh38 GRCh37 |
18 | 33 | |
PEX7 | - | - |
GRCh38 GRCh37 |
649 | 670 | |
SLC35D3 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
TNFAIP3 | - | - |
GRCh38 GRCh37 |
463 | 541 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV002004826.6 | |
Pathogenic (1) |
|
Aug 23, 2022 | RCV002014736.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023