ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
CRYBB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
112 | 139 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
CRYBB3 | - | - |
GRCh38 GRCh37 |
97 | 123 | |
GGT1 | - | - |
GRCh38 GRCh37 |
83 | 199 | |
GRK3 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
GUCD1 | - | - |
GRCh38 GRCh37 |
7 | 103 | |
KIAA1671 | - | - | - |
GRCh38 GRCh37 |
122 | 148 |
LHFPL7 | - | - | - |
GRCh38 GRCh37 |
2 | 26 |
LRRC75B | - | - | - |
GRCh38 GRCh37 |
- | 115 |
PIWIL3 | - | - |
GRCh38 GRCh37 |
60 | 88 |
There are 4 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509448.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022