ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q12(chr4:53688710-56491447)
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 | |||
CHIC2 | - | - |
GRCh38 GRCh37 |
- | - | |
CLOCK | - | - |
GRCh38 GRCh37 |
- | 51 | |
FIP1L1 | - | - |
GRCh38 GRCh37 |
- | - | |
GSX2 | - | - |
GRCh38 GRCh37 |
- | - | |
KDR | - | - |
GRCh38 GRCh37 |
108 | - | |
KIT | - | - |
GRCh38 GRCh37 |
2794 | 2820 | |
LNX1 | - | - |
GRCh38 GRCh37 |
- | 49 | |
NMU | - | - |
GRCh38 GRCh37 |
- | 28 | |
PDCL2 | - | - |
GRCh38 GRCh37 |
- | - | |
PDGFRA | - | - |
GRCh38 GRCh37 |
- | - |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280638.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024