ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3
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 | |||
ANKRD17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
202 | 239 | |
PKD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
797 | 1025 | |
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
465 | 572 | |
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
26 | 52 | |
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 |
626 | 787 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
480 | 508 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
AASDH | - | - |
GRCh38 GRCh37 |
57 | 80 |
There are 749 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051772.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023