ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3
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 | |||
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1028 | 1165 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
24 | 424 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
222 | 332 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
233 | 345 |
There are 58 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) |
|
Apr 26, 2019 | RCV001007169.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023