ClinVar Genomic variation as it relates to human health
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup
Germline
Classification
(1)
Pathogenic
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 | |||
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1726 | 1841 | |
FGFR4 | - | - |
GRCh38 GRCh37 |
70 | 132 | |
LMAN2 | - | - |
GRCh38 GRCh37 |
22 | 91 | |
MXD3 | - | - |
GRCh38 GRCh37 |
22 | 92 | |
PRELID1 | - | - |
GRCh38 GRCh37 |
3 | 73 | |
RAB24 | - | - |
GRCh38 GRCh37 |
- | 68 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 16, 2019 | RCV001199823.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023