ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
959 | 1184 | |
C18orf54 | - | - |
GRCh38 GRCh37 |
1 | 56 | |
CCDC68 | - | - |
GRCh38 GRCh37 |
19 | 78 | |
DYNAP | - | - |
GRCh38 GRCh37 |
11 | 69 | |
POLI | - | - |
GRCh38 GRCh37 |
40 | 96 | |
RAB27B | - | - |
GRCh38 GRCh37 |
8 | 67 | |
STARD6 | - | - |
GRCh38 GRCh37 |
15 | 69 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 9, 2018 | RCV001007426.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022