ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
CD28 | - | - |
GRCh38 GRCh37 |
9 | 44 | |
CTLA4 | - | - |
GRCh38 GRCh37 |
223 | 272 | |
CYP20A1 | - | - | - |
GRCh38 GRCh37 |
26 | 56 |
ICOS | - | - |
GRCh38 GRCh37 |
170 | 205 | |
NBEAL1 | - | - |
GRCh38 GRCh37 |
138 | 169 | |
PARD3B | - | - |
GRCh38 GRCh37 |
104 | 138 | |
RAPH1 | - | - |
GRCh38 GRCh37 |
64 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 25, 2014 | RCV000167569.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023