ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria 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 | |||
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
493 | 599 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 102 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
83 | 204 |
ASB1 | - | - |
GRCh38 GRCh37 |
15 | 98 | |
CAPN10 | - | - |
GRCh38 GRCh37 |
91 | 199 | |
COL6A3 | - | - |
GRCh38 GRCh37 |
3207 | 3405 | |
COPS8 | - | - |
GRCh38 GRCh37 |
13 | 86 | |
COPS9 | - | - |
GRCh38 GRCh37 |
1 | 99 | |
DUSP28 | - | - | - |
GRCh38 GRCh37 |
- | 130 |
ERFE | - | - |
GRCh38 GRCh37 |
1 | 85 |
There are 25 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 5, 2018 | RCV000682151.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023