ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1
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 | |||
CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
24 | 424 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
AIFM3 | - | - |
GRCh38 GRCh37 |
39 | 440 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
DRICH1 | - | - | - |
GRCh38 GRCh37 |
16 | 130 |
GGT2 | - | - |
GRCh38 GRCh37 |
9 | 148 | |
GGTLC2 | - | - |
GRCh38 GRCh37 |
- | 125 | |
GNAZ | - | - |
GRCh38 GRCh37 |
- | 135 | |
HIC2 | - | - |
GRCh38 GRCh37 |
49 | 186 |
There are 32 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240250.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023