ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1
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 | |||
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
899 | 1049 | |
BNC2 | - | - |
GRCh38 GRCh37 |
134 | 299 | |
BNC2-AS1 | - | - | - | GRCh38 | - | 44 |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
114 | 212 |
CER1 | - | - |
GRCh38 GRCh37 |
19 | 126 | |
CNTLN | - | - |
GRCh38 GRCh37 |
130 | 227 | |
LINC00583 | - | - | - | GRCh38 | - | 46 |
LINC01235 | - | - | - | GRCh38 | - | 47 |
LINC03041 | - | - | - | GRCh38 | - | 43 |
LOC105375976 | - | - | - | GRCh38 | 1 | 57 |
There are 51 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051021.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024