ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3
Germline
Classification
(1)
Likely 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 | |||
PKP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1912 | 1965 | |
ABCD2 | - | - |
GRCh38 GRCh37 |
31 | 52 | |
ALG10 | - | - |
GRCh38 GRCh37 |
38 | 73 | |
ALG10B | - | - |
GRCh38 GRCh37 |
33 | 50 | |
AMN1 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
BICD1 | - | - |
GRCh38 GRCh37 |
43 | 77 | |
CAPRIN2 | - | - |
GRCh38 GRCh37 |
59 | 87 | |
CPNE8 | - | - | - |
GRCh38 GRCh37 |
10 | 23 |
DDX11 | - | - |
GRCh38 GRCh37 |
202 | 231 | |
DENND5B | - | - |
GRCh38 GRCh37 |
58 | 90 |
There are 19 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Feb 1, 2016 | RCV000512027.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024