ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1
Germline
Classification
(1)
Pathogenic
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 | |||
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
459 | 607 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
941 | 1088 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
279 | 433 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 392 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 165 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
66 | 221 | |
CRIPAK | - | - |
GRCh38 GRCh37 |
- | 239 | |
CTBP1 | - | - |
GRCh38 GRCh37 |
96 | 400 | |
DGKQ | - | - |
GRCh38 GRCh37 |
108 | 267 | |
FAM53A | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 198 |
There are 22 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000447910.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024