ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)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 | |||
GLI2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
962 | 991 | |
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1324 | 1393 | |
PAX8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
105 | 223 | |
RABL2A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 31 | |
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 | |
ACTR3 | - | - |
GRCh38 GRCh37 |
8 | 24 |
There are 112 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) |
|
Feb 28, 2022 | RCV002226436.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023