ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18886915-21461017)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 |
911 | 1293 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
23 | 416 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
91 | 466 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
25 | 419 | |
ARVCF | - | - |
GRCh38 GRCh37 |
136 | 602 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 374 |
CDC45 | - | - |
GRCh38 GRCh37 |
280 | 656 | |
CLDN5 | - | - |
GRCh38 GRCh37 |
10 | 384 | |
CLTCL1 | - | - |
GRCh38 GRCh37 |
128 | 513 | |
COMT | - | - |
GRCh38 GRCh37 |
87 | 597 |
There are 37 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) |
|
Feb 25, 2021 | RCV001293650.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023