ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21(chr22:18900000-20500000)
Germline
Classification
(1)
Uncertain significance
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 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
91 | 466 | |
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 | |
DGCR2 | - | - |
GRCh38 GRCh37 |
44 | 437 | |
DGCR6L | - | - |
GRCh38 GRCh37 |
9 | 368 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2017 | RCV000626526.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2022