ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)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 | |||
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1013 | 1146 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
102 | 266 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
69 | 181 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 111 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
188 | 295 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
41 | 142 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
230 | 339 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 105 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 107 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 140 |
There are 215 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053074.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023