ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q32.3(chr13:99333632-100773336)x1
Germline
Classification
(1)
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 | |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 127 | |
DOCK9 | - | - |
GRCh38 GRCh37 |
102 | 204 | |
GPR18 | - | - |
GRCh38 GRCh37 |
- | 114 | |
GPR183 | - | - |
GRCh38 GRCh37 |
- | 110 | |
PCCA | - | - |
GRCh38 GRCh37 |
1370 | 1491 | |
SLC15A1 | - | - |
GRCh38 GRCh37 |
46 | 136 | |
TM9SF2 | - | - |
GRCh38 GRCh37 |
24 | 119 | |
UBAC2 | - | - | - |
GRCh38 GRCh37 |
22 | 158 |
ZIC5 | - | - |
GRCh38 GRCh37 |
82 | 178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000511270.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024