ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3
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 | |||
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3629 | 3789 | |
ARL11 | - | - |
GRCh38 GRCh37 |
17 | 86 | |
CAB39L | - | - |
GRCh38 GRCh37 |
22 | 87 | |
CDADC1 | - | - |
GRCh38 GRCh37 |
19 | 81 | |
CYSLTR2 | - | - |
GRCh38 GRCh37 |
35 | 95 | |
DLEU2 | - | - |
GRCh38 GRCh37 |
- | 98 | |
EBPL | - | - |
GRCh38 GRCh37 |
17 | 85 | |
FNDC3A | - | - |
GRCh38 GRCh37 |
67 | 129 | |
ITM2B | - | - |
GRCh38 GRCh37 |
105 | 203 | |
KPNA3 | - | - |
GRCh38 GRCh37 |
28 | 94 |
There are 11 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) |
|
Dec 19, 2017 | RCV000683557.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023