ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)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 | |||
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
481 | 512 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
94 | 124 | |
AFM | - | - |
GRCh38 GRCh37 |
36 | 63 | |
AFP | - | - |
GRCh38 GRCh37 |
32 | 65 | |
ALB | - | - |
GRCh38 GRCh37 |
166 | 195 | |
ANKRD17 | - | - |
GRCh38 GRCh37 |
172 | 210 | |
AREG | - | - |
GRCh38 GRCh37 |
5 | 34 | |
ART3 | - | - |
GRCh38 GRCh37 |
17 | 60 | |
BTC | - | - |
GRCh38 GRCh37 |
16 | 44 | |
CCDC158 | - | - | - |
GRCh38 GRCh37 |
57 | 85 |
There are 43 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) |
|
Jun 27, 2017 | RCV000846231.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022