ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)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 |
86 | 367 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
CLN5 | - | - |
GRCh38 GRCh37 |
587 | 786 | |
EDNRB-AS1 | - | - | - | GRCh38 | - | 226 |
FBXL3 | - | - |
GRCh38 GRCh37 |
20 | 92 | |
KCTD12 | - | - |
GRCh38 GRCh37 |
14 | 84 | |
LINC00446 | - | - | - | GRCh38 | - | 32 |
LINC01069 | - | - | - | GRCh38 | - | 32 |
LOC100129307 | - | - | - | GRCh38 | - | 31 |
LOC105370268 | - | - | GRCh38 | - | 29 |
There are 42 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 16, 2018 | RCV000141902.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023