ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)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 | |||
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
933 | 1324 | |
GAB4 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 126 |
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 217 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
100 | 484 | |
ADA2 | - | - |
GRCh38 GRCh37 |
503 | 583 | |
ARVCF | - | - |
GRCh38 GRCh37 |
163 | 639 | |
BCL2L13 | - | - |
GRCh38 GRCh37 |
36 | 108 | |
BID | - | - |
GRCh38 GRCh37 |
20 | 89 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CCT8L2 | - | - | - |
GRCh38 GRCh37 |
43 | 107 |
There are 36 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) |
|
Jun 26, 2018 | RCV000845704.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022