ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1
Germline
Classification
(1)
Benign
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 | |
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
932 | 1320 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
24 | 424 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
CRYBB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
111 | 138 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
100 | 481 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
ARVCF | - | - |
GRCh38 GRCh37 |
163 | 636 |
There are 97 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 7, 2015 | RCV000225330.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023