ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_9770494)_(10690064_?)del
Germline
Classification
(1)
Uncertain significance
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 | |||
CENPS | - | - |
GRCh38 GRCh37 |
- | 45 | |
CENPS-CORT | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CLSTN1 | - | - |
GRCh38 GRCh37 |
62 | 101 | |
CORT | - | - |
GRCh38 GRCh37 |
- | 46 | |
CTNNBIP1 | - | - |
GRCh38 GRCh37 |
1 | 39 | |
DFFA | - | - |
GRCh38 GRCh37 |
24 | 66 | |
KIF1B | - | - |
GRCh38 GRCh37 |
2691 | 2968 | |
LZIC | - | - |
GRCh38 GRCh37 |
8 | 46 | |
NMNAT1 | - | - |
GRCh38 GRCh37 |
196 | 241 | |
PEX14 | - | - |
GRCh38 GRCh37 |
436 | 516 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 25, 2019 | RCV001031897.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023