ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3
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 | |||
ANKRD17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
199 | 236 | |
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 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
624 | 785 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
479 | 506 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
122 | 149 |
There are 525 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 11, 2013 | RCV000143458.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024