ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.33(chr12:133091631-133393167)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 | |||
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9145 | 9358 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
253 | 287 | |
FBRSL1 | - | - | - |
GRCh38 GRCh37 |
166 | 200 |
GOLGA3 | - | - |
GRCh38 GRCh37 |
143 | 177 | |
LRCOL1 | - | - | - |
GRCh38 GRCh37 |
11 | 42 |
P2RX2 | - | - |
GRCh38 GRCh37 |
238 | 274 | |
PGAM5 | - | - |
GRCh38 GRCh37 |
41 | 86 | |
PXMP2 | - | - |
GRCh38 GRCh37 |
11 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240061.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022