ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
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 | 1146 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
102 | 266 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 117 | |
ADORA2A-AS1 | - | - | - | GRCh38 | - | 55 |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 111 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
188 | 295 | |
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 152 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 |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Feb 18, 2011 | RCV000050739.12 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024