ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CA6 | - | - |
GRCh38 GRCh37 |
21 | 65 | |
ENO1 | - | - |
GRCh38 GRCh37 |
21 | 66 | |
ENO1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 45 |
GPR157 | - | - | - |
GRCh38 GRCh37 |
28 | 72 |
MIR34A | - | - |
GRCh38 GRCh37 |
- | 43 | |
RERE | - | - |
GRCh38 GRCh37 |
757 | 809 | |
SLC2A5 | - | - |
GRCh38 GRCh37 |
53 | 102 | |
SLC2A7 | - | - |
GRCh38 GRCh37 |
57 | 101 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 31, 2017 | RCV000846820.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022