ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)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 | |
ARL6IP6 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
CACNB4 | - | - |
GRCh38 GRCh37 |
294 | 334 | |
EPC2 | - | - |
GRCh38 GRCh37 |
30 | 61 | |
FMNL2 | - | - |
GRCh38 GRCh37 |
39 | 59 | |
GALNT13 | - | - |
GRCh38 GRCh37 |
22 | 51 | |
KIF5C | - | - |
GRCh38 GRCh38 |
206 | 225 | |
LINC01817 | - | - | - | GRCh38 | - | 6 |
There are 111 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 | RCV000054091.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024