ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_57235082)_(57467503_?)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 | |||
CLP1 | - | - |
GRCh38 GRCh37 |
95 | 111 | |
MIR130A | - | - |
GRCh38 GRCh37 |
- | 16 | |
RTN4RL2 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
SERPING1 | - | - |
GRCh38 GRCh37 |
724 | 740 | |
SLC43A1 | - | - |
GRCh38 GRCh37 |
47 | 68 | |
SMTNL1 | - | - |
GRCh38 GRCh37 |
37 | 54 | |
TIMM10 | - | - |
GRCh38 GRCh37 |
5 | 22 | |
UBE2L6 | - | - |
GRCh38 GRCh37 |
13 | 29 | |
YPEL4 | - | - |
GRCh38 GRCh37 |
- | 22 | |
ZDHHC5 | - | - |
GRCh38 GRCh37 |
46 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 13, 2018 | RCV001390202.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024