ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1
Germline
Classification
(1)
Pathogenic
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 |
3552 | 3704 | |
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
CAB39L | - | - |
GRCh38 GRCh37 |
21 | 86 | |
CDADC1 | - | - |
GRCh38 GRCh37 |
18 | 80 | |
CYSLTR2 | - | - |
GRCh38 GRCh37 |
32 | 92 | |
DLEU1 | - | - |
GRCh38 GRCh37 |
- | 60 | |
DLEU2 | - | - |
GRCh38 GRCh37 |
- | 93 | |
DLEU7 | - | - |
GRCh38 GRCh37 |
1 | 81 | |
EBPL | - | - |
GRCh38 GRCh37 |
12 | 80 | |
ESD | - | - |
GRCh38 GRCh37 |
17 | 71 |
There are 19 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) |
|
May 5, 2014 | RCV000511479.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024