ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1
Germline
Classification
(1)
Likely 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 |
968 | 1194 | |
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 197 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
293 | 510 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
83 | 259 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1924 | 2976 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
527 | 1102 | |
ATP9B | - | - |
GRCh38 GRCh37 |
99 | 280 | |
BCL2 | - | - |
GRCh38 GRCh37 |
6 | 99 | |
BOD1L2 | - | - | - |
GRCh38 GRCh37 |
- | 67 |
C18orf54 | - | - |
GRCh38 GRCh37 |
1 | 56 |
There are 82 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 18, 2014 | RCV000510720.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024