ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3
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 |
77 | 213 | |
NSD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
439 | 587 | |
FGFR3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
939 | 1086 | |
FGFRL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
271 | 425 | |
LETM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
243 | 387 | |
NELFA | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 208 | |
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1718 | 1818 | |
ADD1 | - | - |
GRCh38 GRCh37 |
32 | 157 | |
ADRA2C | - | - |
GRCh38 GRCh37 |
32 | 139 | |
ATP5ME | - | - |
GRCh38 GRCh37 |
2 | 160 |
There are 71 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) |
|
Jul 22, 2022 | RCV003484164.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024