ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)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 |
980 | 1009 | |
CLASP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 334 | |
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
13 | 39 |
BIN1 | - | - |
GRCh38 GRCh37 |
703 | 753 | |
C1QL2 | - | - |
GRCh38 GRCh37 |
17 | 41 | |
C2orf76 | - | - | - |
GRCh38 GRCh37 |
1 | 26 |
CCDC93 | - | - |
GRCh38 GRCh37 |
40 | 58 | |
CFAP221 | - | - | GRCh38 | 7 | 10 | |
CNTNAP5 | - | - |
GRCh38 GRCh37 |
134 | 167 | |
CNTNAP5-DT | - | - | - | GRCh38 | - | 10 |
There are 246 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 1, 2010 | RCV000141584.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024