ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3
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 | |||
ABHD17B | - | - |
GRCh38 GRCh37 |
8 | 52 | |
ALDH1A1 | - | - |
GRCh38 GRCh37 |
28 | 69 | |
ANXA1 | - | - |
GRCh38 GRCh37 |
39 | 80 | |
APBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 93 | |
BANCR | - | - |
GRCh38 GRCh37 |
- | 54 | |
C9orf40 | - | - | - |
GRCh38 GRCh37 |
- | 41 |
C9orf57 | - | - | - |
GRCh38 GRCh37 |
1 | 43 |
C9orf85 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CARNMT1 | - | - |
GRCh38 GRCh37 |
11 | 65 | |
CARNMT1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 45 |
There are 42 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) |
|
Feb 29, 2016 | RCV000510725.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024