ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:180064955-180719789)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 | |||
BTNL3 | - | - |
GRCh38 GRCh37 |
33 | 67 | |
BTNL8 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
BTNL9 | - | - | - |
GRCh38 GRCh37 |
57 | 92 |
FLT4 | - | - |
GRCh38 GRCh37 |
347 | 423 | |
MGAT1 | - | - |
GRCh38 GRCh37 |
35 | 70 | |
OR2V1 | - | - | - |
GRCh38 GRCh37 |
1 | 36 |
OR2V2 | - | - | - |
GRCh38 GRCh37 |
17 | 51 |
OR2Y1 | - | - | - |
GRCh38 GRCh37 |
20 | 57 |
RACK1 | - | - |
GRCh38 GRCh37 |
2 | 34 | |
TRIM41 | - | - |
GRCh38 GRCh37 |
45 | 78 |
There are 8 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) |
|
Nov 15, 2019 | RCV001258718.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022