ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)
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 |
1506 | 1589 | |
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1315 | 1386 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
9 | 50 | |
ARHGAP15 | - | - |
GRCh38 GRCh37 |
19 | 51 | |
ARL5A | - | - |
GRCh38 GRCh37 |
7 | 32 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
290 | 332 | |
CXCR4 | - | - |
GRCh38 GRCh37 |
163 | 183 | |
DARS1 | - | - |
GRCh38 GRCh37 |
163 | 192 | |
EPC2 | - | - |
GRCh38 GRCh37 |
22 | 54 | |
GTDC1 | - | - |
GRCh38 GRCh37 |
11 | 51 |
There are 20 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 15, 2021 | RCV001352659.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023