ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3
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 |
90 | 231 | |
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
494 | 645 | |
CLNK | No evidence available | No evidence available |
GRCh38 GRCh37 |
41 | 117 | |
DRD5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 138 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
969 | 1119 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
284 | 440 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
251 | 398 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
70 | 220 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1752 | 1853 | |
ABLIM2 | - | - |
GRCh38 GRCh37 |
67 | 142 |
There are 1201 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) |
|
Mar 21, 2011 | RCV000137261.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024