ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:586039-964873)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 | |||
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 165 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
67 | 222 | |
DGKQ | - | - |
GRCh38 GRCh37 |
108 | 267 | |
GAK | - | - |
GRCh38 GRCh37 |
85 | 268 | |
MYL5 | - | - |
GRCh38 GRCh37 |
- | 173 | |
PCGF3 | - | - |
GRCh38 GRCh37 |
5 | 163 | |
PDE6B | - | - |
GRCh38 GRCh37 |
970 | 1258 | |
SLC49A3 | - | - | - |
GRCh38 GRCh37 |
48 | 222 |
TMEM175 | - | - |
GRCh38 GRCh37 |
50 | 205 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240015.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022