ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p15.5(chr11:268586-748873)
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 | |||
HRAS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
9 | 708 | |
ANO9 | - | - |
GRCh38 GRCh37 |
55 | 100 | |
B4GALNT4 | - | - |
GRCh38 GRCh37 |
80 | 118 | |
CDHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
101 | 143 | |
DEAF1 | - | - |
GRCh38 GRCh38 GRCh37 |
703 | 857 | |
DRD4 | - | - |
GRCh38 GRCh38 GRCh37 |
120 | 160 | |
EPS8L2 | - | - |
GRCh38 GRCh37 |
226 | 328 | |
IFITM1 | - | - |
GRCh38 GRCh37 |
3 | 37 | |
IFITM2 | - | - |
GRCh38 GRCh37 |
- | 46 | |
IFITM3 | - | - |
GRCh38 GRCh37 |
9 | 43 |
There are 18 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003319587.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 04, 2023