ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p11.22(chr10:31425682-32599180)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 | |||
ARHGAP12 | - | - |
GRCh38 GRCh37 |
26 | 40 | |
EPC1 | - | - |
GRCh38 GRCh37 |
22 | 38 | |
KIF5B | - | - |
GRCh38 GRCh37 |
25 | 41 | |
ZEB1 | - | - |
GRCh38 GRCh37 |
101 | 119 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 18, 2017 | RCV000683254.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022