ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:179565253-180051586)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CNOT6 | - | - |
GRCh38 GRCh37 |
17 | 53 | |
FLT4 | - | - |
GRCh38 GRCh37 |
349 | 425 | |
GFPT2 | - | - |
GRCh38 GRCh37 |
38 | 82 | |
MAPK9 | - | - |
GRCh38 GRCh37 |
10 | 50 | |
RASGEF1C | - | - | - |
GRCh38 GRCh37 |
24 | 68 |
SCGB3A1 | - | - |
GRCh38 GRCh37 |
4 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 20, 2022 | RCV003484634.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024