ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ACYP1 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
BATF | - | - |
GRCh38 GRCh37 |
2 | 21 | |
EIF2B2 | - | - |
GRCh38 GRCh37 |
278 | 304 | |
ERG28 | - | - |
GRCh38 GRCh37 |
1 | 22 | |
ESRRB | - | - |
GRCh38 GRCh37 |
255 | 280 | |
FLVCR2 | - | - |
GRCh38 GRCh37 |
143 | 216 | |
FLVCR2-AS1 | - | - | - | GRCh38 | - | 59 |
FOS | - | - |
GRCh38 GRCh37 |
29 | 45 | |
GPATCH2L | - | - | - |
GRCh38 GRCh37 |
20 | 39 |
IFT43 | - | - |
GRCh38 GRCh37 |
266 | 290 |
There are 63 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) |
|
Dec 22, 2010 | RCV000137114.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024