ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)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 |
76 | 212 | |
CLNK | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 116 | |
DRD5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 195 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
934 | 1082 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
273 | 436 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
243 | 387 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 207 | |
NSD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
438 | 584 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1717 | 1817 | |
ABLIM2 | - | - |
GRCh38 GRCh37 |
44 | 119 |
There are 649 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) |
|
Feb 18, 2011 | RCV000135657.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023