ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_46880514)_(47470726_?)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 | |||
MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3949 | 3968 | |
ACP2 | - | - |
GRCh38 GRCh37 |
34 | 52 | |
ARFGAP2 | - | - |
GRCh38 GRCh37 |
44 | 58 | |
CSTPP1 | - | - |
GRCh38 GRCh37 |
4 | 20 | |
DDB2 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
LRP4 | - | - |
GRCh38 GRCh37 |
831 | 1172 | |
MADD | - | - |
GRCh38 GRCh37 |
234 | 251 | |
MADD-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
NR1H3 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
PACSIN3 | - | - |
GRCh38 GRCh37 |
36 | 49 |
There are 4 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) |
|
Oct 4, 2017 | RCV000629174.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024