ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:1892740-2503033)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 | |||
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 215 | |
NSD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
461 | 609 | |
C4orf48 | - | - |
GRCh38 GRCh37 |
- | 37 | |
HAUS3 | - | - |
GRCh38 GRCh37 |
- | 168 | |
MXD4 | - | - |
GRCh38 GRCh37 |
8 | 144 | |
NAT8L | - | - |
GRCh38 GRCh37 |
42 | 178 | |
POLN | - | - |
GRCh38 GRCh37 |
55 | 229 | |
RNF4 | - | - |
GRCh38 GRCh37 |
8 | 135 | |
ZFYVE28 | - | - |
GRCh38 GRCh37 |
70 | 203 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 21, 2022 | RCV002473658.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022