ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:607649-929424)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 | 166 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
69 | 225 | |
GAK | - | - |
GRCh38 GRCh37 |
97 | 284 | |
MYL5 | - | - |
GRCh38 GRCh37 |
- | 176 | |
PCGF3 | - | - |
GRCh38 GRCh37 |
8 | 167 | |
PDE6B | - | - |
GRCh38 GRCh37 |
974 | 1263 | |
SLC49A3 | - | - |
GRCh38 GRCh37 |
55 | 232 | |
TMEM175 | - | - |
GRCh38 GRCh37 |
57 | 213 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 11, 2022 | RCV003484167.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024