ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3
Germline
Classification
(1)
Pathogenic
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 |
1073 | 1212 | |
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
968 | 1360 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
27 | 430 | |
GAB4 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
49 | 132 |
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
142 | 219 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
CRYBB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
116 | 143 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
108 | 492 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 205 | |
ADA2 | - | - |
GRCh38 GRCh37 |
507 | 588 |
There are 125 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2018 | RCV001007163.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023