ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)
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 | |||
ABL1 | - | - |
GRCh38 GRCh37 |
574 | 639 | |
AIF1L | - | - | - |
GRCh38 GRCh37 |
8 | 45 |
ASB6 | - | - |
GRCh38 GRCh37 |
36 | 80 | |
ASS1 | - | - |
GRCh38 GRCh37 |
814 | 866 | |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 43 | |
CRAT | - | - |
GRCh38 GRCh37 |
245 | 286 | |
DOLK | - | - |
GRCh38 GRCh37 |
507 | 555 | |
DOLPP1 | - | - |
GRCh38 GRCh37 |
7 | 48 | |
EXOSC2 | - | - |
GRCh38 GRCh37 |
229 | 298 |
There are 30 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2018 | RCV000767561.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022