ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3
Germline
Classification
(1)
Pathogenic
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 | |||
TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
911 | 1293 | |
GAB4 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
30 | 111 |
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
140 | 214 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
91 | 466 | |
ADA2 | - | - |
GRCh38 GRCh37 |
502 | 580 | |
ARVCF | - | - |
GRCh38 GRCh37 |
136 | 602 | |
BCL2L13 | - | - |
GRCh38 GRCh37 |
26 | 96 | |
BID | - | - |
GRCh38 GRCh37 |
14 | 81 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 374 |
CCDC188 | - | - | - | GRCh38 | - | 172 |
There are 217 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050858.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023