ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1
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 | |||
AKNA | - | - |
GRCh38 GRCh37 |
121 | 172 | |
ALAD | - | - |
GRCh38 GRCh37 |
179 | 223 | |
AMBP | - | - |
GRCh38 GRCh37 |
34 | 70 | |
ATP6V1G1 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
BSPRY | - | - |
GRCh38 GRCh37 |
33 | 74 | |
C9orf43 | - | - | - |
GRCh38 GRCh37 |
3 | 36 |
CDC26 | - | - |
GRCh38 GRCh37 |
5 | 37 | |
COL27A1 | - | - |
GRCh38 GRCh37 |
2068 | 2231 | |
DNAJC25 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
DNAJC25-GNG10 | - | - | - |
GRCh38 GRCh37 |
- | 37 |
There are 31 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) |
|
Jun 15, 2018 | RCV000847543.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023