ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)
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 |
1488 | 1565 | |
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1318 | 1387 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
9 | 45 | |
ARHGAP15 | - | - |
GRCh38 GRCh37 |
16 | 46 | |
ARL5A | - | - |
GRCh38 GRCh37 |
7 | 30 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
290 | 330 | |
EPC2 | - | - |
GRCh38 GRCh37 |
22 | 53 | |
GTDC1 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
KYNU | - | - |
GRCh38 GRCh37 |
61 | 85 | |
LYPD6 | - | - |
GRCh38 GRCh37 |
8 | 29 |
There are 9 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 1, 2022 | RCV002053238.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022