ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)
Germline
Classification
(1)
Pathogenic
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 | |||
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3622 | 3781 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
87 | 371 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 98 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 150 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
111 | 169 | |
ALG11 | - | - |
GRCh38 GRCh37 |
77 | 281 | |
ARL11 | - | - |
GRCh38 GRCh37 |
17 | 86 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2893 | 3035 | |
ATXN8OS | - | - |
GRCh38 GRCh37 |
11 | 108 |
There are 112 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053057.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023