ClinVar Genomic variation as it relates to human health
NC_000018.10:g.(?_55228205)_(55635917_?)del
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 |
960 | 1185 | |
LOC109609705 | - | - | - | GRCh38 | - | 32 |
LOC110120867 | - | - | - | GRCh38 | - | 34 |
LOC110121390 | - | - | - | GRCh38 | - | 33 |
LOC121627832 | - | - | - | GRCh38 | - | 52 |
LOC126862757 | - | - | - | GRCh38 | - | 91 |
LOC130062535 | - | - | - | GRCh38 | - | 33 |
LOC130062536 | - | - | - | GRCh38 | - | 33 |
LOC130062537 | - | - | - | GRCh38 | - | 33 |
LOC130062538 | - | - | - | GRCh38 | - | 33 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 31, 2021 | RCV000544328.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023