ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
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 |
81 | 218 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
942 | 1089 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
280 | 434 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 392 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 215 | |
NSD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
461 | 609 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1725 | 1825 | |
ABLIM2 | - | - |
GRCh38 GRCh37 |
56 | 130 | |
ACOX3 | - | - |
GRCh38 GRCh37 |
83 | 165 | |
ADD1 | - | - |
GRCh38 GRCh37 |
43 | 168 |
There are 82 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767672.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2023