ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1
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 |
931 | 1319 | |
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
24 | 424 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 284 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
99 | 480 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
ARVCF | - | - |
GRCh38 GRCh37 |
163 | 636 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 380 |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
CCDC188 | - | - | - | GRCh38 | - | 172 |
There are 370 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) |
|
Oct 15, 2012 | RCV000141233.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024