ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2(chr5:138386858-138935115)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 | 45 |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 29 | |
MATR3 | - | - |
GRCh38 GRCh37 |
411 | 529 | |
MZB1 | - | - |
GRCh38 GRCh37 |
9 | 40 | |
PAIP2 | - | - |
GRCh38 GRCh37 |
6 | 34 | |
PROB1 | - | - | - |
GRCh38 GRCh37 |
4 | 105 |
SIL1 | - | - |
GRCh38 GRCh37 |
348 | 383 | |
SLC23A1 | - | - |
GRCh38 GRCh37 |
28 | 56 | |
SNHG4 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
SPATA24 | - | - | - |
GRCh38 GRCh37 |
2 | 101 |
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) |
|
Jun 11, 2020 | RCV001827923.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023