ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)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 | |||
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
536 | 655 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
651 | 817 | |
AFF1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
AFF1-AS1 | - | - | - | GRCh38 | - | 10 |
ANTXR2 | - | - |
GRCh38 GRCh37 |
268 | 309 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
213 | 252 | |
BMP3 | - | - |
GRCh38 GRCh37 |
35 | 67 | |
C4orf36 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CDS1 | - | - |
GRCh38 GRCh37 |
26 | 59 | |
CFAP299 | - | - | - |
GRCh38 GRCh37 |
7 | 44 |
There are 138 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) |
|
Apr 30, 2011 | RCV000140416.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023