ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)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 |
1496 | 1573 | |
ACVR2A | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ARL5A | - | - |
GRCh38 GRCh37 |
8 | 31 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
294 | 334 | |
EPC2 | - | - |
GRCh38 GRCh37 |
30 | 61 | |
LYPD6 | - | - |
GRCh38 GRCh37 |
8 | 29 | |
LYPD6B | - | - | - |
GRCh38 GRCh37 |
13 | 36 |
MMADHC | - | - |
GRCh38 GRCh37 |
333 | 378 | |
NEB | - | - |
GRCh38 GRCh37 |
8454 | 10855 | |
NMI | - | - |
GRCh38 GRCh37 |
19 | 42 |
There are 5 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) |
|
Jul 11, 2022 | RCV003485050.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024