ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32(chr19:45287256-45734078)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 | |||
CKM | - | - |
GRCh38 GRCh37 |
- | - | |
EML2 | - | - |
GRCh38 GRCh37 |
60 | 77 | |
EML2-AS1 | - | - | - | GRCh38 | - | 6 |
ERCC1 | - | - |
GRCh38 GRCh37 |
126 | 193 | |
ERCC2 | - | - |
GRCh38 GRCh37 |
2131 | - | |
FBXO46 | - | - |
GRCh38 GRCh37 |
27 | - | |
FOSB | - | - |
GRCh38 GRCh37 |
23 | 35 | |
GIPR | - | - |
GRCh38 GRCh37 |
- | 37 | |
GPR4 | - | - |
GRCh38 GRCh37 |
16 | 29 | |
KLC3 | - | - |
GRCh38 GRCh37 |
36 | 100 |
There are 61 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 | RCV000054152.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023