ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ABITRAM | - | - |
GRCh38 GRCh37 |
11 | 60 | |
ACTL7A | - | - |
GRCh38 GRCh37 |
44 | 84 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
45 | 84 | |
AKNA | - | - |
GRCh38 GRCh37 |
129 | 183 | |
ALAD | - | - |
GRCh38 GRCh37 |
181 | 225 | |
AMBP | - | - |
GRCh38 GRCh37 |
35 | 71 | |
ATP6V1G1 | - | - |
GRCh38 GRCh37 |
11 | 50 | |
BSPRY | - | - |
GRCh38 GRCh37 |
33 | 75 | |
C9orf152 | - | - | - |
GRCh38 GRCh37 |
1 | 37 |
C9orf43 | - | - | - |
GRCh38 GRCh37 |
3 | 36 |
There are 53 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000449308.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024