ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.23(chr22:23804407-24669609)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 |
1070 | 1209 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 127 | |
ADORA2A-AS1 | - | - | - | GRCh38 | - | 63 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
242 | 352 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 149 | |
GGT1 | - | - |
GRCh38 GRCh37 |
90 | 207 | |
GGT5 | - | - |
GRCh38 GRCh37 |
73 | 180 | |
GSTT2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 114 |
There are 49 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000137178.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024