ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q12(chr4:51870025-55102392)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CHIC2 | - | - |
GRCh38 GRCh37 |
5 | 28 | |
DANCR | - | - |
GRCh38 GRCh37 |
- | 29 | |
DCUN1D4 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
ERVMER34-1 | - | - | - |
GRCh38 GRCh37 |
- | 29 |
FIP1L1 | - | - |
GRCh38 GRCh37 |
18 | 46 | |
GSX2 | - | - |
GRCh38 GRCh37 |
25 | 48 | |
KDR | - | - |
GRCh38 GRCh37 |
108 | 133 | |
KIT | - | - |
GRCh38 GRCh37 |
2790 | 2819 | |
LINC01618 | - | - | - | GRCh38 | - | 8 |
LINC02260 | - | - | - | GRCh38 | - | 9 |
There are 57 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050988.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023