ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3
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 | |||
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
480 | 631 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1101 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
283 | 439 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
251 | 398 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
70 | 220 | |
ADD1 | - | - |
GRCh38 GRCh37 |
51 | 180 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 166 | |
CFAP99 | - | - | - | GRCh38 | 68 | 140 |
CPLX1 | - | - |
GRCh38 GRCh37 |
69 | 225 | |
CRIPAK | - | - |
GRCh38 GRCh37 |
- | 254 |
There are 198 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050834.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024