ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)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 |
963 | 992 | |
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 120 | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
26 | 47 | |
CLASP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
57 | 326 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 87 |
ACMSD | - | - |
GRCh38 GRCh37 |
18 | 46 | |
AMER3 | - | - | - |
GRCh38 GRCh37 |
71 | 129 |
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
BIN1 | - | - |
GRCh38 GRCh37 |
700 | 750 | |
CCDC115 | - | - |
GRCh38 GRCh37 |
43 | 92 |
There are 66 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) |
|
Jul 14, 2015 | RCV000512348.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024