ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3
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 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
36 | 163 | |
CETN1 | - | - |
GRCh38 GRCh37 |
8 | 161 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
27 | 187 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
52 | 200 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
57 | 225 | |
DLGAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
EMILIN2 | - | - |
GRCh38 GRCh37 |
93 | 272 |
There are 19 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
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240439.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022