ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)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 | |||
ADAM23 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
CD28 | - | - |
GRCh38 GRCh37 |
9 | 44 | |
CMKLR2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 48 | |
CPO | - | - |
GRCh38 GRCh37 |
27 | 54 | |
CTLA4 | - | - |
GRCh38 GRCh37 |
223 | 272 | |
DYTN | - | - |
GRCh38 GRCh37 |
31 | 58 | |
EEF1B2 | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 45 | |
FASTKD2 | - | - |
GRCh38 GRCh37 |
368 | 428 | |
ICOS | - | - |
GRCh38 GRCh37 |
170 | 205 | |
INO80D | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 78 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 7, 2019 | RCV001270640.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023