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 |
3622 | 3781 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 98 | |
ALG11 | - | - |
GRCh38 GRCh37 |
77 | 281 | |
ARL11 | - | - |
GRCh38 GRCh37 |
17 | 86 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2893 | 3035 | |
CAB39L | - | - |
GRCh38 GRCh37 |
22 | 87 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CDADC1 | - | - |
GRCh38 GRCh37 |
19 | 81 | |
COG3 | - | - |
GRCh38 GRCh37 |
45 | 99 | |
CPB2 | - | - |
GRCh38 GRCh37 |
3 | 79 |
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