ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q25(chr4:109800241-109990141)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 | |||
CFI | - | - |
GRCh38 GRCh37 |
500 | 513 | |
EGF | - | - |
GRCh38 GRCh37 |
457 | 507 | |
GAR1 | - | - |
GRCh38 GRCh37 |
10 | 26 | |
GAR1-DT | - | - | - | GRCh38 | - | 3 |
LOC123477802 | - | - | - | GRCh38 | - | 4 |
LOC126807134 | - | - | - | GRCh38 | - | 34 |
LOC129992954 | - | - | - | GRCh38 | - | 3 |
LOC129992955 | - | - | - | GRCh38 | - | 3 |
LOC129992956 | - | - | - | GRCh38 | - | 3 |
LOC129992957 | - | - | - | GRCh38 | - | 6 |
There are 4 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051633.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023