ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_113503051)_(114070745_?)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 | |||
ATP6V1A | - | - |
GRCh38 GRCh37 |
285 | 316 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
35 | 89 |
DRD3 | - | - |
GRCh38 GRCh37 |
51 | 85 | |
GRAMD1C | - | - |
GRCh38 GRCh37 |
39 | 75 | |
QTRT2 | - | - | - |
GRCh38 GRCh37 |
4 | 37 |
TIGIT | - | - |
GRCh38 GRCh37 |
20 | 57 | |
ZBTB20 | - | - |
GRCh38 GRCh37 |
262 | 346 | |
ZDHHC23 | - | - |
GRCh38 GRCh37 |
23 | 72 | |
ZNF80 | - | - |
GRCh38 GRCh37 |
18 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 19, 2022 | RCV003105597.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023