ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)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 |
GRCh38 GRCh37 |
494 | 600 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 102 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
256 | 345 | |
AGAP1-IT1 | - | - | - | GRCh38 | - | 23 |
ARL4C | - | - |
GRCh38 GRCh37 |
5 | 51 | |
ASB1 | - | - |
GRCh38 GRCh37 |
15 | 98 | |
ASB18 | - | - | - |
GRCh38 GRCh37 |
28 | 105 |
COL6A3 | - | - |
GRCh38 GRCh37 |
3207 | 3405 | |
COPS8 | - | - |
GRCh38 GRCh37 |
13 | 86 |
There are 172 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 14, 2011 | RCV000137411.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024