ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
PKP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1920 | 1973 | |
DNM1L | - | - |
GRCh38 GRCh37 |
675 | 745 | |
LOC126861496 | - | - | - | GRCh38 | - | 11 |
LOC126861497 | - | - | - | GRCh38 | - | 11 |
LOC126861498 | - | - | - | GRCh38 | - | 9 |
LOC126861499 | - | - | - | GRCh38 | - | 9 |
LOC129390433 | - | - | - | GRCh38 | - | 11 |
LOC129390434 | - | - | - | GRCh38 | - | 13 |
LOC130007663 | - | - | - | GRCh38 | - | 14 |
LOC130007664 | - | - | - | GRCh38 | - | 22 |
There are 2 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
|
Uncertain significance (1) |
|
Jan 24, 2011 | RCV000135581.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024