ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4048 | 4104 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2081 | 2129 | |
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1071 | 1210 | |
SEC14L4 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
27 | 51 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
CRYBB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
116 | 143 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 127 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
97 | 128 | |
ASCC2 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
ASPHD2 | - | - | - |
GRCh38 GRCh37 |
18 | 45 |
There are 121 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) |
|
Jul 17, 2017 | RCV000684530.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023