ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_6015110)_(6759736_?)del
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 | |||
BMP2 | - | - |
GRCh38 GRCh37 |
176 | 207 | |
CRLS1 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
FERMT1 | - | - |
GRCh38 GRCh37 |
529 | 565 | |
LRRN4 | - | - |
GRCh38 GRCh37 |
55 | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 18, 2019 | RCV001032295.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022