ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1
Germline
Classification
(1)
Likely 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 | |||
C2orf49 | - | - | - |
GRCh38 GRCh37 |
2 | 197 |
C2orf49-DT | - | - | - | GRCh38 | - | 10 |
ECRG4 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
FHL2 | - | - |
GRCh38 GRCh37 |
42 | 236 | |
GPR45 | - | - |
GRCh38 GRCh37 |
153 | 181 | |
IL18R1 | - | - |
GRCh38 GRCh37 |
20 | 42 | |
IL18RAP | - | - |
GRCh38 GRCh37 |
29 | 51 | |
IL1R1 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
IL1R1-AS1 | - | - | - | GRCh38 | - | 22 |
IL1RL1 | - | - |
GRCh38 GRCh37 |
51 | 74 |
There are 105 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
|
Likely pathogenic (1) |
|
Jan 5, 2011 | RCV000134974.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024