ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3
Germline
Classification
(1)
Likely 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 |
783 | 1006 | |
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
461 | 568 | |
HSD17B13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
21 | 50 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
479 | 506 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
AFF1 | - | - |
GRCh38 GRCh37 |
98 | 133 | |
ARHGAP24 | - | - |
GRCh38 GRCh37 |
204 | 243 | |
ATOH1 | - | - |
GRCh38 GRCh37 |
41 | 68 | |
BMPR1B | - | - |
GRCh38 GRCh37 |
363 | 394 | |
C4orf36 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
There are 32 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986489.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024