ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
Germline
Classification
(1)
Likely 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 | |||
FXYD4 | - | - |
GRCh38 GRCh37 |
6 | 27 | |
HNRNPF | - | - |
GRCh38 GRCh37 |
13 | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV000521892.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 29, 2022