ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1
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 | |||
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 567 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
624 | 785 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
121 | 148 | |
AFF1 | - | - |
GRCh38 GRCh37 |
98 | 133 | |
AFM | - | - |
GRCh38 GRCh37 |
43 | 67 | |
AFP | - | - |
GRCh38 GRCh37 |
38 | 68 | |
ALB | - | - |
GRCh38 GRCh37 |
169 | 195 | |
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
ANKRD17 | - | - |
GRCh38 GRCh37 |
199 | 236 |
There are 89 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) |
|
Sep 4, 2019 | RCV001263040.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023