ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)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 | |||
PKD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
837 | 1070 | |
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
524 | 640 | |
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 |
502 | 530 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
44 | 71 | |
AFF1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
213 | 252 | |
ATOH1 | - | - |
GRCh38 GRCh37 |
45 | 72 | |
BMP3 | - | - |
GRCh38 GRCh37 |
35 | 67 |
There are 51 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) |
|
- | RCV003986493.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024