ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1
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 | |||
MSX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
86 | 225 | |
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
469 | 620 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
944 | 1094 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
280 | 436 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 395 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 217 | |
ADD1 | - | - |
GRCh38 GRCh37 |
43 | 172 | |
ADRA2C | - | - |
GRCh38 GRCh37 |
37 | 145 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 166 | |
CFAP99 | - | - | - | GRCh38 | 62 | 132 |
There are 314 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 | RCV000051677.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024