ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:178904345-179529124)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 | |||
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 70 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 57 |
HNRNPH1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 80 | |
LTC4S | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 52 | |
MAML1 | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 101 | |
MGAT4B | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 69 | |
MRNIP | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 65 | |
RASGEF1C | - | - | - |
GRCh38 GRCh37 |
16 | 60 |
RNF130 | - | - |
GRCh38 GRCh37 |
20 | 63 |
There are 3 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) |
|
Oct 3, 2017 | RCV000682623.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023