ClinVar Genomic variation as it relates to human health
NC_000012.12:g.(?_12717002)_(13982130_?)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 | |||
CDKN1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
935 | 986 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1527 | 1570 | |
APOLD1 | - | - |
GRCh38 GRCh37 |
20 | 78 | |
DDX47 | - | - |
GRCh38 GRCh37 |
32 | 88 | |
EMP1 | - | - |
GRCh38 GRCh37 |
14 | 59 | |
FAM234B | - | - |
GRCh38 GRCh37 |
44 | 89 | |
GPRC5A | - | - |
GRCh38 GRCh37 |
28 | 72 | |
GPRC5D | - | - |
GRCh38 GRCh37 |
- | 72 | |
GSG1 | - | - | - |
GRCh38 GRCh37 |
21 | 76 |
HEBP1 | - | - |
GRCh38 GRCh37 |
- | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 23, 2019 | RCV001032122.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024