ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1
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 | |||
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
88 | 376 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
BORA | - | - |
GRCh38 GRCh37 |
29 | 103 | |
CLN5 | - | - |
GRCh38 GRCh37 |
596 | 795 | |
COMMD6 | - | - |
GRCh38 GRCh37 |
2 | 70 | |
DACH1 | - | - |
GRCh38 GRCh37 |
39 | 104 | |
DIS3 | - | - |
GRCh38 GRCh37 |
61 | 141 | |
FBXL3 | - | - |
GRCh38 GRCh37 |
24 | 96 | |
KCTD12 | - | - |
GRCh38 GRCh37 |
20 | 90 | |
KLF12 | - | - |
GRCh38 GRCh37 |
18 | 91 |
There are 19 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240205.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024