ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)
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 | |||
ETV6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 383 | |
BCL2L14 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 59 | |
BORCS5 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 61 | |
CREBL2 | - | - |
GRCh38 GRCh37 |
7 | 51 | |
DUSP16 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 84 | |
GPR19 | - | - |
GRCh38 GRCh37 |
24 | 69 | |
LOC116268434 | - | - | - |
GRCh38 GRCh38 |
- | 13 |
LOC121466691 | - | - | - |
GRCh38 GRCh38 |
- | 14 |
LOC121466692 | - | - | - |
GRCh38 GRCh38 |
- | 15 |
LOC124625903 | - | - | - | GRCh38 | - | 13 |
There are 46 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 17, 2023 | RCV003448563.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2023