ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q21.2(chr18:54468297-55949009)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 | |||
TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
960 | 1185 | |
CCDC68 | - | - |
GRCh38 GRCh37 |
19 | 78 | |
DYNAP | - | - |
GRCh38 GRCh37 |
11 | 69 | |
LINC01415 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
LINC01416 | - | - | - | GRCh38 | - | 29 |
LINC01929 | - | - | - | GRCh38 | - | 30 |
LOC109609705 | - | - | - | GRCh38 | - | 32 |
LOC110120867 | - | - | - | GRCh38 | - | 34 |
LOC110121313 | - | - | - | GRCh38 | - | 29 |
LOC110121390 | - | - | - | GRCh38 | - | 33 |
There are 25 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 5, 2011 | RCV000137301.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024