ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1
Germline
Classification
(1)
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 | |||
AK1 | - | - |
GRCh38 GRCh37 |
- | 100 | |
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
BBLN | - | - | - |
GRCh38 GRCh37 |
- | 36 |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 40 | |
CERCAM | - | - |
GRCh38 GRCh37 |
47 | 89 | |
CIZ1 | - | - |
GRCh38 GRCh37 |
336 | 428 | |
COQ4 | - | - |
GRCh38 GRCh37 |
267 | 326 | |
CRAT | - | - |
GRCh38 GRCh37 |
239 | 277 | |
DNM1 | - | - |
GRCh38 GRCh37 |
605 | 891 |
There are 256 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052934.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023