ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)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 | |||
ABHD17B | - | - |
GRCh38 GRCh37 |
10 | 55 | |
ALDH1A1 | - | - |
GRCh38 GRCh37 |
28 | 71 | |
ANXA1 | - | - |
GRCh38 GRCh37 |
52 | 94 | |
APBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 113 | |
BANCR | - | - |
GRCh38 GRCh37 |
- | 54 | |
C9orf40 | - | - | - |
GRCh38 GRCh37 |
- | 42 |
C9orf57 | - | - | - |
GRCh38 GRCh37 |
1 | 44 |
C9orf85 | - | - |
GRCh38 GRCh37 |
2 | 48 | |
CARNMT1 | - | - |
GRCh38 GRCh37 |
13 | 71 | |
CARNMT1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
There are 255 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 16, 2011 | RCV000137963.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024