ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)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 | |||
ACOXL | - | - | - |
GRCh38 GRCh37 |
37 | 105 |
BUB1 | - | - |
GRCh38 GRCh37 |
1195 | 1254 | |
C2orf49 | - | - | - |
GRCh38 GRCh37 |
2 | 197 |
C2orf49-DT | - | - | - | GRCh38 | - | 10 |
CCDC138 | - | - | - |
GRCh38 GRCh37 |
- | 93 |
CD8B2 | - | - | - | GRCh38 | - | 16 |
ECRG4 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
EDAR | - | - |
GRCh38 GRCh37 |
1 | 375 | |
FHL2 | - | - |
GRCh38 GRCh37 |
42 | 236 | |
GACAT1 | - | - | - | GRCh38 | - | 12 |
There are 233 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000138645.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024