ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3
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 | |||
ASPG | - | - |
GRCh38 GRCh37 |
38 | 98 | |
ATP5MJ | - | - |
GRCh38 GRCh37 |
1 | 59 | |
BAG5 | - | - |
GRCh38 GRCh37 |
32 | 93 | |
CKB | - | - |
GRCh38 GRCh37 |
15 | 74 | |
COA8 | - | - |
GRCh38 GRCh37 |
156 | 218 | |
EIF5 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
EIF5-DT | - | - | - | GRCh38 | - | 27 |
KIF26A | - | - |
GRCh38 GRCh37 |
267 | 327 | |
KIF26A-DT | - | - | - | GRCh38 | - | 28 |
KLC1 | - | - |
GRCh38 GRCh37 |
24 | 106 |
There are 64 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 18, 2014 | RCV000143756.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024