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 |
977 | 1204 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1924 | 2976 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
540 | 1124 | |
ATP8B1-AS1 | - | - | - | GRCh38 | - | 516 |
BCL2 | - | - |
GRCh38 GRCh37 |
6 | 99 | |
BOD1L2 | - | - | - |
GRCh38 GRCh37 |
- | 67 |
C18orf54 | - | - |
GRCh38 GRCh37 |
1 | 56 | |
CCBE1 | - | - |
GRCh38 GRCh37 |
515 | 589 | |
CCDC68 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
CDH20 | - | - |
GRCh38 GRCh37 |
44 | 118 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053836.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024