ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
ARHGAP32 | - | - |
GRCh38 GRCh37 |
169 | 256 | |
CDON | - | - |
GRCh38 GRCh37 |
662 | 736 | |
DCPS | - | - |
GRCh38 GRCh37 |
32 | 150 | |
DDX25 | - | - |
GRCh38 GRCh37 |
63 | 132 | |
ETS1 | - | - |
GRCh38 GRCh37 |
21 | 96 | |
ETS1-AS1 | - | - | - | GRCh38 | - | 34 |
FAM118B | - | - |
GRCh38 GRCh37 |
4 | 90 | |
FLI1 | - | - |
GRCh38 GRCh37 |
171 | 277 | |
FOXRED1 | - | - |
GRCh38 GRCh37 |
425 | 530 | |
GSEC | - | - | - | GRCh38 | - | 63 |
There are 108 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) |
|
Aug 12, 2011 | RCV000050926.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024