ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
CER1 | - | - |
GRCh38 GRCh37 |
16 | 122 | |
LOC124225049 | - | - | - | GRCh38 | - | 49 |
LOC124225050 | - | - | - | GRCh38 | - | 48 |
LOC124225051 | - | - | - | GRCh38 | - | 47 |
LOC124225052 | - | - | - | GRCh38 | - | 46 |
LOC126860582 | - | - | - | GRCh38 | - | 84 |
LOC130001559 | - | - | - | GRCh38 | - | 48 |
LOC130001560 | - | - | - | GRCh38 | - | 44 |
LOC130001561 | - | - | - | GRCh38 | - | 44 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 2, 2012 | RCV000138542.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024