ClinVar Genomic variation as it relates to human health
NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
LOC126806366 | - | - | - | GRCh38 | - | 17 |
LOC126806367 | - | - | - | GRCh38 | - | 12 |
LOC129934887 | - | - | - | GRCh38 | - | 16 |
LOC129934888 | - | - | - | GRCh38 | - | 17 |
ORC4 | - | - |
GRCh38 GRCh37 |
170 | 239 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 1, 2014 | RCV000162199.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023