ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1
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 | |||
FBXO33 | - | - |
GRCh38 GRCh37 |
31 | 58 | |
GEMIN2 | - | - |
GRCh38 GRCh37 |
4 | 37 | |
LINC00639 | - | - | - | GRCh38 | - | 16 |
LOC105370457 | - | - | - | GRCh38 | - | 15 |
LOC124995374 | - | - | - | GRCh38 | - | 13 |
LOC126861926 | - | - | - | GRCh38 | - | 15 |
LOC126861927 | - | - | - | GRCh38 | - | 14 |
LOC126861928 | - | - | - | GRCh38 | - | 14 |
LOC126861929 | - | - | - | GRCh38 | 1 | 15 |
LOC129390622 | - | - | - | GRCh38 | 1 | 18 |
There are 20 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051518.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023