ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q31.1(chr4:140930352-141499318)x3
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 | |||
CLGN | - | - |
GRCh38 GRCh37 |
36 | 70 | |
ELMOD2 | - | - |
GRCh38 GRCh37 |
30 | 63 | |
MAML3 | - | - |
GRCh38 GRCh37 |
23 | 57 | |
MGAT4D | - | - |
GRCh38 GRCh37 |
- | 33 | |
SCOC | - | - | - |
GRCh38 GRCh37 |
11 | 46 |
UCP1 | - | - |
GRCh38 GRCh37 |
27 | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986494.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024