ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p21.2(chr6:36822889-37159699)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 | |||
C6orf89 | - | - |
GRCh38 GRCh37 |
1 | 17 | |
CPNE5 | - | - |
GRCh38 GRCh37 |
36 | 50 | |
FGD2 | - | - |
GRCh38 GRCh37 |
58 | 72 | |
LOC116183059 | - | - | - | GRCh38 | - | 3 |
LOC116183060 | - | - | - | GRCh38 | - | 2 |
LOC123620099 | - | - | - | GRCh38 | - | 2 |
LOC123620100 | - | - | - | GRCh38 | - | 3 |
LOC123620101 | - | - | - | GRCh38 | - | 2 |
LOC123620102 | - | - | - | GRCh38 | - | 2 |
LOC123620103 | - | - | - | GRCh38 | - | 2 |
There are 20 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Oct 21, 2014 | RCV000143519.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024