ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)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 |
331 | 475 | |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 127 | |
DOCK9 | - | - |
GRCh38 GRCh37 |
102 | 204 | |
FARP1 | - | - |
GRCh38 GRCh37 |
66 | 195 | |
GGACT | - | - |
GRCh38 GRCh37 |
8 | 122 | |
GPR18 | - | - |
GRCh38 GRCh37 |
- | 114 | |
GPR183 | - | - |
GRCh38 GRCh37 |
- | 110 | |
IPO5 | - | - |
GRCh38 GRCh37 |
6 | 93 | |
NALCN | - | - |
GRCh38 GRCh37 |
919 | 1111 | |
PCCA | - | - |
GRCh38 GRCh37 |
1370 | 1491 |
There are 7 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 23, 2014 | RCV000510477.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024