ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
DOLK | - | - |
GRCh38 GRCh37 |
495 | 540 | |
DYNC2I2 | - | - |
GRCh38 GRCh37 |
344 | 538 | |
ENDOG | - | - |
GRCh38 GRCh37 |
9 | 62 | |
GLE1 | - | - |
GRCh38 GRCh37 |
388 | 698 | |
KYAT1 | - | - |
GRCh38 GRCh37 |
- | 49 | |
LRRC8A | - | - |
GRCh38 GRCh37 |
389 | 428 | |
NUP188 | - | - |
GRCh38 GRCh37 |
229 | 279 | |
PHYHD1 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
PKN3 | - | - |
GRCh38 GRCh37 |
86 | 124 | |
SET | - | - |
GRCh38 GRCh37 |
67 | 113 |
There are 5 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) |
|
Jan 16, 2019 | RCV001270669.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023