ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2(chr5:138351402-138893343)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 | |||
DNAJC18 | - | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 46 |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 30 | |
MATR3 | - | - |
GRCh38 GRCh37 |
412 | 531 | |
MZB1 | - | - |
GRCh38 GRCh37 |
9 | 41 | |
PAIP2 | - | - |
GRCh38 GRCh37 |
6 | 35 | |
PROB1 | - | - | - |
GRCh38 GRCh37 |
4 | 106 |
SIL1 | - | - |
GRCh38 GRCh37 |
349 | 387 | |
SLC23A1 | - | - |
GRCh38 GRCh37 |
28 | 57 | |
SNHG4 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
SPATA24 | - | - | - |
GRCh38 GRCh37 |
2 | 102 |
There is 1 more gene 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) |
|
Apr 13, 2020 | RCV001259916.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023