ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)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 |
CPMER | - | - | - | GRCh38 | - | 11 |
CRYBA4 | - | - |
GRCh38 GRCh37 |
85 | 202 | |
CRYBB1 | - | - |
GRCh38 GRCh37 |
1 | 117 | |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
61 | 93 |
There are 114 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052869.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023