ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3
Germline
Classification
(1)
Likely 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 | |
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1325 | 1394 | |
ACMSD | - | - |
GRCh38 GRCh37 |
18 | 46 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ARHGAP15 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
CCNT2 | - | - |
GRCh38 GRCh37 |
24 | 40 | |
CXCR4 | - | - |
GRCh38 GRCh37 |
165 | 185 | |
DARS1 | - | - |
GRCh38 GRCh37 |
176 | 206 | |
EPC2 | - | - |
GRCh38 GRCh37 |
30 | 61 | |
GTDC1 | - | - |
GRCh38 GRCh37 |
15 | 52 |
There are 18 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986337.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024