ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)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 | 369 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 141 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
ATXN8OS | - | - |
GRCh38 GRCh37 |
10 | 107 | |
BORA | - | - |
GRCh38 GRCh37 |
27 | 101 | |
CLN5 | - | - |
GRCh38 GRCh37 |
594 | 793 | |
COMMD6 | - | - |
GRCh38 GRCh37 |
2 | 70 | |
DACH1 | - | - |
GRCh38 GRCh37 |
38 | 103 | |
DIS3 | - | - |
GRCh38 GRCh37 |
52 | 132 | |
EDNRB-AS1 | - | - | - | GRCh38 | - | 228 |
There are 250 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 5, 2011 | RCV000134951.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024