ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)
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 |
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 | |
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 | |
AFF1 | - | - |
GRCh38 GRCh37 |
98 | 133 | |
ANTXR2 | - | - |
GRCh38 GRCh37 |
262 | 302 | |
ANXA3 | - | - |
GRCh38 GRCh37 |
25 | 46 |
There are 83 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) |
|
Mar 1, 2022 | RCV002053429.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023