ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
ALDH1A1 | - | - |
GRCh38 GRCh37 |
25 | 66 | |
ANXA1 | - | - |
GRCh38 GRCh37 |
36 | 77 | |
C9orf40 | - | - | - |
GRCh38 GRCh37 |
- | 41 |
CARNMT1 | - | - |
GRCh38 GRCh37 |
10 | 61 | |
CARNMT1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
FOXB2 | - | - |
GRCh38 GRCh37 |
27 | 66 | |
GCNT1 | - | - |
GRCh38 GRCh37 |
22 | 64 | |
GDA | - | - |
GRCh38 GRCh37 |
20 | 63 | |
LINC01474 | - | - | - | GRCh38 | - | 17 |
LINC01504 | - | - | - | GRCh38 | - | 18 |
There are 82 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052906.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023