ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)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 | |||
BMP4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
209 | 235 | |
CDKN3 | - | - |
GRCh38 GRCh37 |
3 | 21 | |
CGRRF1 | - | - |
GRCh38 GRCh37 |
15 | 32 | |
CNIH1 | - | - |
GRCh38 GRCh37 |
4 | 22 | |
GMFB | - | - |
GRCh38 GRCh37 |
4 | 23 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Dec 16, 2014 | RCV000511921.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024