ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4
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 | |||
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
461 | 609 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
942 | 1089 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 392 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 215 | |
FAM53A | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 198 | |
HAUS3 | - | - |
GRCh38 GRCh37 |
- | 168 | |
MXD4 | - | - |
GRCh38 GRCh37 |
8 | 144 | |
NAT8L | - | - |
GRCh38 GRCh37 |
42 | 178 | |
NICOL1 | - | - |
GRCh38 GRCh37 |
1 | 103 | |
POLN | - | - |
GRCh38 GRCh37 |
55 | 229 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 6, 2023 | RCV003485344.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024