ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1
Germline
Classification
(1)
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 | |||
SMAD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2031 | 2073 | |
TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
955 | 1179 | |
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 190 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 461 | |
ACAA2 | - | - |
GRCh38 GRCh37 |
21 | 62 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
52 | 227 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1585 | 2463 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
506 | 1074 | |
ATP9B | - | - |
GRCh38 GRCh37 |
71 | 251 | |
BCL2 | - | - |
GRCh38 GRCh37 |
4 | 94 |
There are 101 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) |
|
Aug 25, 2014 | RCV000511759.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022