ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_129170453)_(129551340_?)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 | |||
CNBP | - | - |
GRCh38 GRCh37 |
10 | 29 | |
COPG1 | - | - |
GRCh38 GRCh37 |
65 | 79 | |
EFCAB12 | - | - | - |
GRCh38 GRCh37 |
27 | 40 |
H1-10 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
H1-8 | - | - | - |
GRCh38 GRCh37 |
39 | 52 |
HMCES | - | - |
GRCh38 GRCh37 |
27 | 40 | |
IFT122 | - | - |
GRCh38 GRCh37 |
700 | 743 | |
MBD4 | - | - |
GRCh38 GRCh37 |
362 | 390 | |
RHO | - | - |
GRCh38 GRCh37 |
578 | 593 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 5, 2019 | RCV001031235.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022