ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1
Germline
Classification
(1)
Pathogenic
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 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1795 | 2778 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
512 | 1083 | |
ATP8B1-AS1 | - | - | - | GRCh38 | - | 505 |
BCL2 | - | - |
GRCh38 GRCh37 |
5 | 96 | |
BOD1L2 | - | - | - |
GRCh38 GRCh37 |
- | 67 |
C18orf54 | - | - |
GRCh38 GRCh37 |
1 | 56 | |
CCBE1 | - | - |
GRCh38 GRCh37 |
508 | 581 | |
CCDC68 | - | - |
GRCh38 GRCh37 |
19 | 78 | |
CDH20 | - | - |
GRCh38 GRCh37 |
34 | 108 |
There are 332 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 12, 2011 | RCV000053836.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023