ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)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 | |||
ABL1 | - | - |
GRCh38 GRCh37 |
561 | 626 | |
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 76 | |
ASS1 | - | - |
GRCh38 GRCh37 |
806 | 858 | |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 43 | |
CRAT | - | - |
GRCh38 GRCh37 |
240 | 281 | |
DOLK | - | - |
GRCh38 GRCh37 |
495 | 543 | |
DOLPP1 | - | - |
GRCh38 GRCh37 |
6 | 47 | |
EXOSC2 | - | - |
GRCh38 GRCh37 |
226 | 294 | |
FIBCD1 | - | - |
GRCh38 GRCh37 |
57 | 96 |
There are 171 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 16, 2011 | RCV000137775.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024