ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4048 | 4104 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2081 | 2129 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
97 | 128 | |
ASCC2 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
CABP7 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
CCDC117 | - | - | - |
GRCh38 GRCh37 |
23 | 54 |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
GAS2L1 | - | - |
GRCh38 GRCh37 |
20 | 51 |
There are 16 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) |
|
Mar 18, 2020 | RCV001258778.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022