ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4050 | 4106 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
97 | 128 | |
ASPHD2 | - | - | - |
GRCh38 GRCh37 |
18 | 45 |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
CCDC117 | - | - | - |
GRCh38 GRCh37 |
23 | 54 |
CRYBA4 | - | - |
GRCh38 GRCh37 |
85 | 202 | |
CRYBB1 | - | - |
GRCh38 GRCh37 |
1 | 117 | |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
GAS2L1 | - | - |
GRCh38 GRCh37 |
20 | 51 |
There are 17 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 2, 2021 | RCV002472563.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023