ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3
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 | |||
CRYBB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
111 | 138 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
222 | 332 | |
CRYBB3 | - | - |
GRCh38 GRCh37 |
97 | 123 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
GGT1 | - | - |
GRCh38 GRCh37 |
83 | 199 | |
GGT5 | - | - |
GRCh38 GRCh37 |
65 | 172 | |
GRK3 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
GSTT1 | - | - |
GRCh38 GRCh37 |
5 | 74 |
There are 11 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
|
Uncertain significance (1) |
|
Apr 25, 2018 | RCV001007417.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022