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 |
1498 | 1575 | |
NR4A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
119 | 155 | |
ACVR1 | - | - |
GRCh38 GRCh37 |
308 | 328 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
50 | 74 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ARL5A | - | - |
GRCh38 GRCh37 |
8 | 31 | |
ARL6IP6 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
294 | 334 | |
CYTIP | - | - |
GRCh38 GRCh37 |
18 | 46 | |
EPC2 | - | - |
GRCh38 GRCh37 |
30 | 61 |
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 | RCV000054090.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024