ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3
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 | |||
MBD5 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1488 | 1565 | |
NR4A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 150 | |
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1318 | 1387 | |
ACVR1 | - | - |
GRCh38 GRCh37 |
306 | 326 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
45 | 68 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
9 | 45 | |
ARL5A | - | - |
GRCh38 GRCh37 |
7 | 30 | |
ARL6IP6 | - | - |
GRCh38 GRCh37 |
11 | 30 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
290 | 330 | |
CCDC148 | - | - | - |
GRCh38 GRCh37 |
20 | 49 |
There are 230 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) |
|
Jul 30, 2009 | RCV000135402.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023