ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
BATF | - | - |
GRCh38 GRCh37 |
2 | 21 | |
ERG28 | - | - |
GRCh38 GRCh37 |
1 | 22 | |
FLVCR2 | - | - |
GRCh38 GRCh37 |
143 | 216 | |
FLVCR2-AS1 | - | - | - | GRCh38 | - | 59 |
LOC112272557 | - | - | - | GRCh38 | - | 9 |
LOC129390647 | - | - | - | GRCh38 | - | 9 |
LOC130056122 | - | - | - | GRCh38 | - | 9 |
LOC130056123 | - | - | - | GRCh38 | - | 9 |
LOC130056124 | - | - | - | GRCh38 | - | 9 |
LOC130056125 | - | - | - | GRCh38 | - | 9 |
There are 16 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052084.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023