ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)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 |
323 | 466 | |
GPC5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 159 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
61 | 152 | |
BIVM | - | - |
GRCh38 GRCh37 |
- | 111 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 530 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
421 | 521 |
CLDN10 | - | - |
GRCh38 GRCh37 |
34 | 123 | |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 124 | |
DAOA | - | - |
GRCh38 GRCh37 |
- | 125 | |
DAOA-AS1 | - | - |
GRCh38 GRCh37 |
- | 125 |
There are 42 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) |
|
Jun 24, 2023 | RCV003483195.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024