ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)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 |
1028 | 1165 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
222 | 332 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
233 | 345 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 144 |
There are 214 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 | RCV000053087.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024