ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)
Germline
Classification
(1)
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 | |||
ATOH8 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
C2orf68 | - | - |
GRCh38 GRCh37 |
- | 19 | |
CAPG | - | - |
GRCh38 GRCh37 |
21 | 38 | |
CD8A | - | - |
GRCh38 GRCh37 |
173 | 198 | |
CD8B | - | - |
GRCh38 GRCh37 |
14 | 28 | |
CHMP3 | - | - |
GRCh38 GRCh37 |
- | 26 | |
DNAH6 | - | - |
GRCh38 GRCh37 |
447 | 464 | |
ELMOD3 | - | - |
GRCh38 GRCh38 GRCh37 |
155 | 174 | |
GGCX | - | - |
GRCh38 GRCh37 |
458 | 491 | |
GNLY | - | - |
GRCh38 GRCh37 |
11 | 28 |
There are 27 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053172.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023