ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)
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 | |||
GATA6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
553 | 587 | |
ABHD3 | - | - |
GRCh38 GRCh37 |
13 | 50 | |
ANKRD30B | - | - |
GRCh38 GRCh37 |
91 | 166 | |
CABLES1 | - | - |
GRCh38 GRCh37 |
21 | 89 | |
CTAGE1 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 97 | |
ESCO1 | - | - |
GRCh38 GRCh37 |
36 | 73 | |
FAM210A | - | - |
GRCh38 GRCh37 |
17 | 104 | |
GATA6-AS1 | - | - | - | GRCh38 | - | 17 |
GREB1L | - | - |
GRCh38 GRCh37 |
221 | 359 | |
GREB1L-DT | - | - | - | GRCh38 | - | 18 |
There are 103 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) |
|
Jun 4, 2013 | RCV000143455.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024