ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_14849146)_(15669910_?)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 | |||
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
328 | 750 | |
ARHGDIB | - | - |
GRCh38 GRCh37 |
4 | 45 | |
ART4 | - | - |
GRCh38 GRCh37 |
17 | 55 | |
C12orf60 | - | - | - |
GRCh38 GRCh37 |
2 | 78 |
ERP27 | - | - |
GRCh38 GRCh37 |
18 | 57 | |
H2AJ | - | - | - |
GRCh38 GRCh37 |
4 | 42 |
H4C16 | - | - |
GRCh38 GRCh37 |
6 | 44 | |
MGP | - | - |
GRCh38 GRCh37 |
98 | 150 | |
PDE6H | - | - |
GRCh38 GRCh37 |
65 | 104 | |
PTPRO | - | - |
GRCh38 GRCh37 |
277 | 328 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 2, 2021 | RCV001978819.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023