ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)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 |
4050 | 4106 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2083 | 2131 | |
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1072 | 1211 | |
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 | |
APOL3 | - | - |
GRCh38 GRCh37 |
39 | 63 | |
APOL4 | - | - |
GRCh38 GRCh37 |
10 | 33 |
There are 123 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) |
|
Jun 23, 2014 | RCV000511098.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024