ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1
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 | |||
MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3941 | 3960 | |
ACP2 | - | - |
GRCh38 GRCh37 |
34 | 52 | |
DDB2 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
LOC121392911 | - | - | - | GRCh38 | - | 5 |
LOC121392912 | - | - | - | GRCh38 | - | 5 |
LOC126861205 | - | - | - | GRCh38 | - | 26 |
LOC130005670 | - | - | - | GRCh38 | - | 5 |
LOC130005671 | - | - | - | GRCh38 | - | 9 |
LOC130005672 | - | - | - | GRCh38 | - | 5 |
LOC130005673 | - | - | - | GRCh38 | - | 5 |
There are 13 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 16, 2012 | RCV000139788.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024