ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)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 | |||
MSX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 213 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
939 | 1086 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
271 | 425 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
243 | 387 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 208 | |
NSD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
438 | 586 | |
ADD1 | - | - |
GRCh38 GRCh37 |
32 | 157 | |
ADRA2C | - | - |
GRCh38 GRCh37 |
32 | 139 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
2 | 160 | |
C4orf50 | - | - | - |
GRCh38 GRCh37 |
5 | 94 |
There are 355 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136572.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023