ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)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 | |||
ROR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
678 | 718 | |
AUH | - | - |
GRCh38 GRCh37 |
192 | 274 | |
C9orf47 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CDK20 | - | - |
GRCh38 GRCh37 |
63 | 101 | |
CKS2 | - | - |
GRCh38 GRCh37 |
1 | 36 | |
CTSL | - | - |
GRCh38 GRCh37 |
24 | 59 | |
DAPK1 | - | - |
GRCh38 GRCh37 |
116 | 156 | |
DAPK1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
DIRAS2 | - | - |
GRCh38 GRCh37 |
4 | 34 | |
GADD45G | - | - |
GRCh38 GRCh37 |
7 | 38 |
There are 11 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 22, 2019 | RCV001006243.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023