ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p11.21-11.1(chr12:32576883-33609400)x3
Germline
Classification
(1)
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 |
1936 | 1989 | |
DNM1L | - | - |
GRCh38 GRCh37 |
676 | 747 | |
FGD4 | - | - |
GRCh38 GRCh37 |
743 | 783 | |
SYT10 | - | - | - |
GRCh38 GRCh37 |
38 | 76 |
YARS2 | - | - |
GRCh38 GRCh37 |
257 | 319 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 17, 2022 | RCV002473757.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022