ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3
Germline
Classification
(1)
Likely 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 | |||
ZIC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
336 | 480 | |
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 537 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 127 | |
DOCK9 | - | - |
GRCh38 GRCh37 |
102 | 204 | |
ERCC5 | - | - |
GRCh38 GRCh37 |
2 | 531 | |
FARP1 | - | - |
GRCh38 GRCh37 |
66 | 195 | |
FGF14 | - | - |
GRCh38 GRCh37 |
179 | 290 | |
GGACT | - | - |
GRCh38 GRCh37 |
8 | 122 |
There are 18 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
|
Likely pathogenic (1) |
|
Jun 22, 2015 | RCV000510620.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024