ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:68345-1109959)x1
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 | |||
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
280 | 436 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 166 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
67 | 223 | |
DGKQ | - | - |
GRCh38 GRCh37 |
108 | 268 | |
GAK | - | - |
GRCh38 GRCh37 |
85 | 269 | |
IDUA | - | - |
GRCh38 GRCh37 |
1388 | 2137 | |
MYL5 | - | - |
GRCh38 GRCh37 |
- | 173 | |
PCGF3 | - | - |
GRCh38 GRCh37 |
5 | 164 | |
PDE6B | - | - |
GRCh38 GRCh37 |
971 | 1260 | |
PIGG | - | - |
GRCh38 GRCh37 |
988 | 1160 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 21, 2020 | RCV001258641.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022