ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)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 |
781 | 1004 | |
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 567 | |
HSD17B13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
21 | 50 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
624 | 785 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
479 | 506 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADH1A | - | - |
GRCh38 GRCh37 |
- | 32 | |
ADH1B | - | - |
GRCh38 GRCh37 |
31 | 57 | |
ADH1C | - | - |
GRCh38 GRCh37 |
28 | 49 | |
ADH4 | - | - |
GRCh38 GRCh37 |
- | 47 |
There are 330 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327709.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024