ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p15.5(chr11:680365-827724)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 | |||
CEND1 | - | - |
GRCh38 GRCh37 |
19 | 59 | |
CRACR2B | - | - |
GRCh38 GRCh37 |
24 | 62 | |
DEAF1 | - | - |
GRCh38 GRCh38 GRCh37 |
703 | 858 | |
EPS8L2 | - | - |
GRCh38 GRCh37 |
229 | 331 | |
GATD1 | - | - | - |
GRCh38 GRCh37 |
23 | 67 |
PIDD1 | - | - |
GRCh38 GRCh37 |
136 | 174 | |
PNPLA2 | - | - |
GRCh38 GRCh37 |
516 | 613 | |
RPLP2 | - | - |
GRCh38 GRCh37 |
6 | 45 | |
SLC25A22 | - | - |
GRCh38 GRCh37 |
543 | 589 | |
TALDO1 | - | - |
GRCh38 GRCh37 |
164 | 260 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000239908.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022