ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1
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 | |||
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 284 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
57 | 225 | |
DLGAP1-AS1 | - | - | - | GRCh38 | - | 53 |
DLGAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
DLGAP1-AS3 | - | - | - | GRCh38 | - | 82 |
DLGAP1-AS4 | - | - | - | GRCh38 | - | 53 |
DLGAP1-AS5 | - | - | - | GRCh38 | - | 53 |
EMILIN2 | - | - |
GRCh38 GRCh37 |
93 | 272 | |
EPB41L3 | - | - |
GRCh38 GRCh37 |
69 | 192 |
There are 101 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) |
|
Aug 12, 2011 | RCV000053788.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024