ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248)
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 |
968 | 1194 | |
BOD1L2 | - | - | - |
GRCh38 GRCh37 |
- | 67 |
C18orf54 | - | - |
GRCh38 GRCh37 |
1 | 56 | |
CCDC68 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
DCC | - | - |
GRCh38 GRCh37 |
248 | 303 | |
DYNAP | - | - |
GRCh38 GRCh37 |
14 | 72 | |
LINC-ROR | - | - |
GRCh38 GRCh37 |
- | 67 | |
LINC01415 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
MBD2 | - | - |
GRCh38 GRCh37 |
19 | 80 | |
POLI | - | - |
GRCh38 GRCh37 |
49 | 105 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052638.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022