ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.3(chr18:41156104-42112882)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
KC6 | - | - | - | GRCh38 | - | 21 |
LOC130062399 | - | - | - | GRCh38 | - | 22 |
LOC130062400 | - | - | - | GRCh38 | - | 22 |
LOC130062401 | - | - | - | GRCh38 | - | 21 |
PIK3C3 | - | - |
GRCh38 GRCh37 |
46 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 24, 2014 | RCV000141719.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024