ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)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 |
201 | 238 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
122 | 149 | |
AFM | - | - |
GRCh38 GRCh37 |
43 | 67 | |
AFP | - | - |
GRCh38 GRCh37 |
38 | 68 | |
ALB | - | - |
GRCh38 GRCh37 |
169 | 195 | |
ANKRD17-DT | - | - | - | GRCh38 | - | 7 |
AREG | - | - |
GRCh38 GRCh37 |
6 | 33 | |
ART3 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
BTC | - | - |
GRCh38 GRCh37 |
20 | 46 |
There are 158 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 | RCV000051774.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023