ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3
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 |
144 | 284 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
113 | 218 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
36 | 163 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
57 | 225 | |
DLGAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
EMILIN2 | - | - |
GRCh38 GRCh37 |
93 | 272 | |
EPB41L3 | - | - |
GRCh38 GRCh37 |
69 | 192 | |
L3MBTL4 | - | - |
GRCh38 GRCh37 |
36 | 161 | |
LAMA1 | - | - |
GRCh38 GRCh37 |
1232 | 1441 |
There are 15 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) |
|
Nov 19, 2013 | RCV000511962.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024