ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)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 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
22 | 140 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
13 | 124 | |
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 534 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 127 | |
DAOA | - | - |
GRCh38 GRCh37 |
- | 128 | |
DAOA-AS1 | - | - |
GRCh38 GRCh37 |
- | 128 | |
EFNB2 | - | - |
GRCh38 GRCh37 |
12 | 132 |
There are 17 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) |
|
Feb 22, 2022 | RCV002473790.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023