ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)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 | |||
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
92 | 384 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
63 | 151 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
ALG11 | - | - |
GRCh38 GRCh37 |
79 | 285 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2926 | 3070 | |
ATXN8OS | - | - |
GRCh38 GRCh37 |
11 | 108 | |
BORA | - | - |
GRCh38 GRCh37 |
29 | 103 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CKAP2 | - | - |
GRCh38 GRCh37 |
52 | 116 | |
CLN5 | - | - |
GRCh38 GRCh37 |
598 | 798 |
There are 54 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) |
|
Dec 7, 2018 | RCV001006564.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024