ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)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 |
943 | 972 | |
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 117 | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 | |
CLASP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 301 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 83 |
ACMSD | - | - |
GRCh38 GRCh37 |
12 | 36 | |
AMER3 | - | - | - |
GRCh38 GRCh37 |
58 | 116 |
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
11 | 37 |
ANKRD30BL | - | - | - | GRCh38 | - | 5 |
ARHGEF4-AS1 | - | - | - | GRCh38 | - | 11 |
There are 383 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 6, 2011 | RCV000054058.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023