ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)
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 | |||
COX7A2L | - | - |
GRCh38 GRCh37 |
1 | 22 | |
EML4 | - | - |
GRCh38 GRCh37 |
57 | 81 | |
HAAO | - | - |
GRCh38 GRCh37 |
36 | 56 | |
KCNG3 | - | - |
GRCh38 GRCh37 |
6 | 28 | |
LINC02898 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
MTA3 | - | - |
GRCh38 GRCh37 |
11 | 34 | |
OXER1 | - | - | - |
GRCh38 GRCh37 |
37 | 55 |
PKDCC | - | - |
GRCh38 GRCh37 |
131 | 210 | |
SLC8A1 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
THUMPD2 | - | - |
GRCh38 GRCh37 |
30 | 53 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052471.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022