ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)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 | |||
PKD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
834 | 1067 | |
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 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
500 | 528 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
44 | 71 | |
AFF1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
213 | 252 | |
C4orf36 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
CDS1 | - | - |
GRCh38 GRCh37 |
26 | 59 |
There are 39 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000447691.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024