ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)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 | |||
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 286 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
57 | 227 | |
DLGAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
EMILIN2 | - | - |
GRCh38 GRCh37 |
94 | 273 | |
LPIN2 | - | - |
GRCh38 GRCh37 |
885 | 1035 | |
MYL12A | - | - | - |
GRCh38 GRCh37 |
6 | 150 |
MYL12B | - | - |
GRCh38 GRCh37 |
1 | 144 | |
MYOM1 | - | - |
GRCh38 GRCh37 |
1718 | 1868 | |
SMCHD1 | - | - |
GRCh38 GRCh37 |
1398 | 1557 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 23, 2014 | RCV000512590.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024