ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3
Germline
Classification
(1)
Pathogenic
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 | |||
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9026 | 9239 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
238 | 272 | |
CHFR | - | - |
GRCh38 GRCh37 |
41 | 76 | |
DDX51 | - | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 114 |
EP400 | - | - |
GRCh38 GRCh37 |
333 | 398 | |
FBRSL1 | - | - | - |
GRCh38 GRCh37 |
156 | 190 |
GOLGA3 | - | - |
GRCh38 GRCh37 |
124 | 158 | |
LRCOL1 | - | - | - |
GRCh38 GRCh37 |
10 | 41 |
MMP17 | - | - |
GRCh38 GRCh37 |
69 | 93 |
There are 15 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
|
Pathogenic (1) |
|
Jul 20, 2018 | RCV000790570.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022