ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3
Germline
Classification
(1)
Uncertain significance
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 |
1013 | 1148 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
110 | 281 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 120 | |
ADORA2A-AS1 | - | - | - | GRCh38 | - | 55 |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 114 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
188 | 305 | |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
229 | 341 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 110 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 111 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 142 |
There are 155 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000141936.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023