ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)
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 | |||
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 | - | - |
GRCh38 GRCh37 |
199 | 236 | |
ANXA3 | - | - |
GRCh38 GRCh37 |
25 | 46 | |
AREG | - | - |
GRCh38 GRCh37 |
6 | 33 | |
ART3 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
BMP2K | - | - |
GRCh38 GRCh37 |
34 | 62 |
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) |
|
Mar 1, 2022 | RCV002053427.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022