ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1
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 | |||
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 388 | |
ARB2A | - | - | - |
GRCh38 GRCh37 |
23 | 67 |
LOC105379082 | - | - | - | GRCh38 | - | 12 |
LOC110120641 | - | - | - | GRCh38 | - | 15 |
LOC110120699 | - | - | - | GRCh38 | - | 13 |
LOC110120808 | - | - | - | GRCh38 | - | 15 |
LOC110120815 | - | - | - | GRCh38 | - | 12 |
LOC110120966 | - | - | - | GRCh38 | - | 13 |
LOC110120971 | - | - | - | GRCh38 | - | 12 |
LOC110120974 | - | - | - | GRCh38 | - | 13 |
There are 20 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
|
Likely pathogenic (1) |
|
Jul 18, 2014 | RCV000140706.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024