ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.11(chr9:132183626-133431092)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 | |||
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
ASS1 | - | - |
GRCh38 GRCh37 |
795 | 844 | |
C9orf50 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
C9orf78 | - | - |
GRCh38 GRCh37 |
- | 40 | |
FNBP1 | - | - |
GRCh38 GRCh37 |
32 | 75 | |
GPR107 | - | - |
GRCh38 GRCh37 |
24 | 64 | |
HMCN2 | - | - | - |
GRCh38 GRCh37 |
30 | 65 |
NCS1 | - | - |
GRCh38 GRCh37 |
7 | 42 | |
NTMT1 | - | - |
GRCh38 GRCh37 |
4 | 49 | |
PRRX2 | - | - |
GRCh38 GRCh37 |
25 | 67 |
There are 4 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) |
|
Sep 6, 2018 | RCV000848121.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022