ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2(chr5:138675227-139314012)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 | |||
CXXC5 | - | - |
GRCh38 GRCh37 |
- | - | |
DNAJC18 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | - |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
MZB1 | - | - |
GRCh38 GRCh37 |
- | - | |
NRG2 | - | - |
GRCh38 GRCh37 |
- | - | |
PAIP2 | - | - |
GRCh38 GRCh37 |
- | - | |
PROB1 | - | - | - |
GRCh38 GRCh37 |
- | - |
PSD2 | - | - | - |
GRCh38 GRCh37 |
- | - |
SLC23A1 | - | - |
GRCh38 GRCh37 |
- | - | |
SPATA24 | - | - | - |
GRCh38 GRCh37 |
- | - |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 25, 2020 | RCV001834327.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022