ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:239860877-241385960)
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 | |||
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
519 | 627 | |
COPS9 | - | - |
GRCh38 GRCh37 |
1 | 101 | |
GPC1 | - | - |
GRCh38 GRCh37 |
60 | 165 | |
LOC100128563 | - | - | - | GRCh37 | - | 19 |
NDUFA10 | - | - |
GRCh38 GRCh38 GRCh37 |
348 | 448 | |
OR6B2 | - | - | - |
GRCh38 GRCh37 |
35 | 134 |
OR6B3 | - | - | - |
GRCh38 GRCh37 |
23 | 133 |
OTOS | - | - |
GRCh38 GRCh37 |
11 | 111 | |
PRR21 | - | - | - |
GRCh38 GRCh37 |
6 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291955.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022