ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)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 |
234 | 272 | |
WDFY3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
536 | 655 | |
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
651 | 817 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
487 | 516 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
130 | 157 | |
AFM | - | - |
GRCh38 GRCh37 |
46 | 70 | |
AFP | - | - |
GRCh38 GRCh37 |
43 | 74 | |
ALB | - | - |
GRCh38 GRCh37 |
172 | 198 | |
ANKRD17-DT | - | - | - | GRCh38 | - | 7 |
ANTXR2 | - | - |
GRCh38 GRCh37 |
268 | 309 |
There are 323 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) |
|
Apr 23, 2012 | RCV000138312.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024