ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
C9orf47 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CDK20 | - | - |
GRCh38 GRCh37 |
53 | 91 | |
CKS2 | - | - |
GRCh38 GRCh37 |
1 | 36 | |
CTSL | - | - |
GRCh38 GRCh37 |
22 | 57 | |
DIRAS2 | - | - |
GRCh38 GRCh37 |
4 | 34 | |
GADD45G | - | - |
GRCh38 GRCh37 |
7 | 38 | |
NXNL2 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 44 | |
S1PR3 | - | - |
GRCh38 GRCh37 |
22 | 56 | |
SECISBP2 | - | - |
GRCh38 GRCh37 |
82 | 121 | |
SEMA4D | - | - |
GRCh38 GRCh37 |
89 | 124 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jul 23, 2021 | RCV003329413.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 23, 2024