ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.2-34.3(chr9:134492275-135456038)x3
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 | |||
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 3414 | |
COL5A1-AS1 | - | - | - | GRCh38 | - | 26 |
FCN1 | - | - |
GRCh38 GRCh37 |
33 | 79 | |
FCN2 | - | - |
GRCh38 GRCh37 |
33 | 80 | |
LINC02907 | - | - | - |
GRCh38 GRCh37 |
5 | 56 |
LOC100506532 | - | - | - | GRCh38 | - | 24 |
LOC101448202 | - | - | - | GRCh38 | - | 754 |
LOC105376314 | - | - | - | GRCh38 | - | 24 |
LOC129390117 | - | - | - | GRCh38 | - | 23 |
LOC130002963 | - | - | - | GRCh38 | - | 24 |
There are 16 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) |
|
Dec 22, 2010 | RCV000136609.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024