ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1
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 | |||
MBD5 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
- | 1565 | |
NR4A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 150 | |
ACVR1 | - | - |
GRCh38 GRCh37 |
306 | 326 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
45 | - | |
ACVR2A | - | - |
GRCh38 GRCh37 |
- | 45 | |
ARL5A | - | - |
GRCh38 GRCh37 |
7 | 30 | |
ARL6IP6 | - | - |
GRCh38 GRCh37 |
11 | 30 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
290 | 330 | |
CYTIP | - | - |
GRCh38 GRCh37 |
13 | 41 | |
EPC2 | - | - |
GRCh38 GRCh37 |
22 | 53 |
There are 181 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) |
|
Aug 12, 2011 | RCV000054090.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023