ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
HIC2 | - | - |
GRCh38 GRCh37 |
49 | 186 | |
MAPK1 | - | - |
GRCh38 GRCh37 |
42 | 149 | |
MIR130B | - | - |
GRCh38 GRCh37 |
- | 101 | |
PPIL2 | - | - |
GRCh38 GRCh37 |
31 | 136 | |
PPM1F | - | - |
GRCh38 GRCh37 |
56 | 169 | |
PPM1F-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
PRAME | - | - |
GRCh38 GRCh38 GRCh37 |
- | 133 | |
RIMBP3C | - | - |
GRCh38 GRCh37 |
4 | 102 |
There are 8 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) |
|
Oct 14, 2019 | RCV000684492.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023