ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1
Germline
Classification
(1)
Pathogenic
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 | 434 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 165 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
67 | 222 | |
CRIPAK | - | - |
GRCh38 GRCh37 |
- | 239 | |
CTBP1 | - | - |
GRCh38 GRCh37 |
97 | 401 | |
CTBP1-AS | - | - | - | GRCh38 | - | 213 |
CTBP1-DT | - | - | - | GRCh38 | - | 71 |
DGKQ | - | - |
GRCh38 GRCh37 |
108 | 267 | |
GAK | - | - |
GRCh38 GRCh37 |
85 | 268 | |
IDUA | - | - |
GRCh38 GRCh37 |
1386 | 2132 |
There are 82 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136895.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024