ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)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 |
90 | 231 | |
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 |
976 | 1126 | |
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 | |
NSD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
500 | 651 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1753 | 1854 | |
ABLIM2 | - | - |
GRCh38 GRCh37 |
67 | 142 |
There are 138 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 29, 2018 | RCV001007422.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023