ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)
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 | |||
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 616 | |
HSD17B13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 54 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
651 | 817 | |
AFF1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
213 | 252 | |
C4orf36 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CDS1 | - | - |
GRCh38 GRCh37 |
26 | 59 | |
COPS4 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
COQ2 | - | - |
GRCh38 GRCh37 |
228 | 409 | |
ENOPH1 | - | - | - |
GRCh38 GRCh37 |
6 | 49 |
There are 20 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767792.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023