ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:131550680-131775355)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 |
494 | 539 | |
ENDOG | - | - |
GRCh38 GRCh37 |
9 | 62 | |
KYAT1 | - | - |
GRCh38 GRCh37 |
- | 49 | |
LRRC8A | - | - |
GRCh38 GRCh37 |
389 | 428 | |
NUP188 | - | - |
GRCh38 GRCh37 |
229 | 279 | |
PHYHD1 | - | - | - |
GRCh38 GRCh37 |
19 | 57 |
SH3GLB2 | - | - |
GRCh38 GRCh37 |
16 | 50 | |
SPOUT1 | - | - |
GRCh38 GRCh37 |
- | 73 | |
TBC1D13 | - | - |
GRCh38 GRCh37 |
14 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240044.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022