ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)
Germline
Classification
(1)
Likely 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 |
81 | 218 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1725 | 1825 | |
ADD1 | - | - |
GRCh38 GRCh37 |
43 | 168 | |
ADRA2C | - | - |
GRCh38 GRCh37 |
37 | 144 | |
BLOC1S4 | - | - |
GRCh38 GRCh37 |
17 | 99 | |
C4orf50 | - | - | - |
GRCh38 GRCh37 |
5 | 94 |
CRMP1 | - | - |
GRCh38 GRCh37 |
42 | 142 | |
CYTL1 | - | - |
GRCh38 GRCh37 |
10 | 110 | |
DOK7 | - | - |
GRCh38 GRCh37 |
1081 | 1303 | |
EVC | - | - |
GRCh38 GRCh37 |
1788 | 1930 |
There are 24 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 25, 2020 | RCV001255691.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023