ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)
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 |
3316 | 3468 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
86 | 368 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 95 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 141 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
103 | 161 | |
ALG11 | - | - |
GRCh38 GRCh37 |
74 | 267 | |
ALG5 | - | - |
GRCh38 GRCh37 |
25 | 76 | |
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2857 | 2999 |
There are 139 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 | RCV002053052.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023