ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)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 | |||
ZIC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 473 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
87 | 371 | |
GPC5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
78 | 165 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
72 | 164 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 534 |
BORA | - | - |
GRCh38 GRCh37 |
29 | 103 | |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
CLDN10 | - | - |
GRCh38 GRCh37 |
37 | 126 |
There are 70 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) |
|
Jan 20, 2023 | RCV003483190.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024