ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CERCAM | - | - |
GRCh38 GRCh37 |
47 | 89 | |
COQ4 | - | - |
GRCh38 GRCh37 |
267 | 326 | |
CRAT | - | - |
GRCh38 GRCh37 |
239 | 277 | |
DOLK | - | - |
GRCh38 GRCh37 |
494 | 539 | |
DOLPP1 | - | - |
GRCh38 GRCh37 |
6 | 44 | |
DYNC2I2 | - | - |
GRCh38 GRCh37 |
344 | 538 | |
ENDOG | - | - |
GRCh38 GRCh37 |
9 | 62 | |
GLE1 | - | - |
GRCh38 GRCh37 |
388 | 698 | |
KYAT1 | - | - |
GRCh38 GRCh37 |
- | 49 | |
LRRC8A | - | - |
GRCh38 GRCh37 |
389 | 428 |
There are 14 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 9, 2019 | RCV001006275.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022