ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)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 |
461 | 568 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
624 | 785 | |
ANTXR2 | - | - |
GRCh38 GRCh37 |
262 | 302 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
204 | 243 | |
BMP3 | - | - |
GRCh38 GRCh37 |
30 | 62 | |
CDS1 | - | - |
GRCh38 GRCh37 |
25 | 58 | |
CFAP299 | - | - | - |
GRCh38 GRCh37 |
7 | 44 |
COPS4 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
COQ2 | - | - |
GRCh38 GRCh37 |
221 | 399 | |
ENOPH1 | - | - | - |
GRCh38 GRCh37 |
6 | 49 |
There are 129 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136865.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024