ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_202566574)_(203424669_?)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 | |||
BMPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1091 | 1154 | |
ALS2 | - | - |
GRCh38 GRCh37 |
1009 | 1053 | |
CDK15 | - | - |
GRCh38 GRCh37 |
23 | 58 | |
FZD7 | - | - |
GRCh38 GRCh37 |
28 | 60 | |
NOP58 | - | - |
GRCh38 GRCh37 |
19 | 52 | |
SUMO1 | - | - |
GRCh38 GRCh37 |
20 | 53 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 12, 2021 | RCV001946571.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024