ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1
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 | |||
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9138 | 9351 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
47 | 70 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
249 | 283 | |
CHFR | - | - |
GRCh38 GRCh37 |
46 | 82 | |
DDX51 | - | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 122 |
EP400 | - | - |
GRCh38 GRCh37 |
362 | 428 | |
FBRSL1 | - | - |
GRCh38 GRCh37 |
166 | 200 | |
FZD10 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
GLT1D1 | - | - | - |
GRCh38 GRCh37 |
20 | 52 |
GOLGA3 | - | - |
GRCh38 GRCh37 |
142 | 176 |
There are 24 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 19, 2018 | RCV000848702.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023