ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)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 | |||
GLI2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
962 | 991 | |
BIN1 | - | - |
GRCh38 GRCh37 |
700 | 750 | |
C1QL2 | - | - |
GRCh38 GRCh37 |
17 | 41 | |
C2orf76 | - | - | - |
GRCh38 GRCh37 |
1 | 26 |
CLASP1 | - | - |
GRCh38 GRCh37 |
57 | 326 | |
CNTNAP5 | - | - |
GRCh38 GRCh37 |
128 | 160 | |
CYP27C1 | - | - | - |
GRCh38 GRCh37 |
28 | 57 |
DBI | - | - |
GRCh38 GRCh37 |
5 | 30 | |
EN1 | - | - |
GRCh38 GRCh37 |
35 | 58 | |
EPB41L5 | - | - |
GRCh38 GRCh37 |
47 | 76 |
There are 16 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 12, 2019 | RCV001005309.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022