ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3
Germline
Classification
(1)
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 | |||
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
ASS1 | - | - |
GRCh38 GRCh37 |
795 | 844 | |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 40 | |
CRAT | - | - |
GRCh38 GRCh37 |
240 | 278 | |
DOLPP1 | - | - |
GRCh38 GRCh37 |
6 | 44 | |
FNBP1 | - | - |
GRCh38 GRCh37 |
32 | 75 | |
GPR107 | - | - |
GRCh38 GRCh37 |
24 | 64 | |
GPRACR | - | - | - | GRCh38 | - | 18 |
HMCN2 | - | - | - |
GRCh38 GRCh37 |
30 | 65 |
There are 127 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053778.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023