ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)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 | GRCh37 | 561 | 671 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
24 | 109 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
276 | 368 | |
ASB1 | - | - |
GRCh38 GRCh37 |
21 | 108 | |
ASB18 | - | - | - |
GRCh38 GRCh37 |
43 | 125 |
COL6A3 | - | - |
GRCh38 GRCh37 |
3281 | 3484 | |
COPS8 | - | - |
GRCh38 GRCh37 |
16 | 93 | |
COPS8-DT | - | - | - | GRCh38 | - | 35 |
ERFE | - | - |
GRCh38 GRCh37 |
1 | 88 | |
ESPNL | - | - |
GRCh38 GRCh37 |
142 | 230 |
There are 135 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 7, 2011 | RCV000137830.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2025