ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_32729292)_(33049665_?)dup
Germline
Classification
(2)
Uncertain significance
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 | |||
PKP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1774 | 1827 | |
DNM1L | - | - |
GRCh38 GRCh37 |
668 | 737 | |
FGD4 | - | - |
GRCh38 GRCh37 |
734 | 773 | |
YARS2 | - | - |
GRCh38 GRCh37 |
251 | 313 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003122385.5 | |
Uncertain significance (1) |
|
Apr 15, 2022 | RCV003122386.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023