ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3
Germline
Classification
(1)
Likely 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 |
3316 | 3467 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 95 | |
ALG11 | - | - |
GRCh38 GRCh37 |
74 | 267 | |
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2854 | 2996 | |
CAB39L | - | - |
GRCh38 GRCh37 |
21 | 86 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 89 |
CDADC1 | - | - |
GRCh38 GRCh37 |
18 | 80 | |
COG3 | - | - |
GRCh38 GRCh37 |
39 | 93 | |
CPB2 | - | - |
GRCh38 GRCh37 |
- | 74 |
There are 46 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 17, 2020 | RCV001258545.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023