ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)
Germline
Classification
(1)
Uncertain significance
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 | |||
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
20 | 95 | |
C9orf72 | - | - |
GRCh38 GRCh37 |
95 | 177 | |
CAAP1 | - | - | - |
GRCh38 GRCh37 |
25 | 100 |
CDKN2B | - | - |
GRCh38 GRCh37 |
- | 129 | |
CDKN2B-AS1 | - | - |
GRCh38 GRCh37 |
4 | 136 | |
DMRTA1 | - | - |
GRCh38 GRCh37 |
42 | 124 | |
EQTN | - | - |
GRCh38 GRCh37 |
20 | 99 | |
IFT74 | - | - |
GRCh38 GRCh37 |
495 | 601 | |
IZUMO3 | - | - |
GRCh38 GRCh37 |
2 | 80 | |
LINGO2 | - | - |
GRCh38 GRCh37 |
82 | 160 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053848.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023