ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_12111033)_(13342042_?)dup
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 | |||
CAMK1D | - | - |
GRCh38 GRCh37 |
13 | 46 | |
CCDC3 | - | - |
GRCh38 GRCh37 |
26 | 58 | |
CDC123 | - | - |
GRCh38 GRCh37 |
18 | 45 | |
DHTKD1 | - | - |
GRCh38 GRCh37 |
837 | 892 | |
MCM10 | - | - |
GRCh38 GRCh37 |
80 | 108 | |
NUDT5 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
OPTN | - | - |
GRCh38 GRCh37 |
367 | 498 | |
PHYH | - | - |
GRCh38 GRCh37 |
445 | 507 | |
SEC61A2 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
UCMA | - | - | - |
GRCh38 GRCh37 |
18 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 3, 2023 | RCV001979753.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024