ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q15(chr5:94902711-95930059)x3
Germline
Classification
(1)
Likely benign
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 | |||
ARSK | - | - |
GRCh38 GRCh37 |
30 | 63 | |
ELL2 | - | - |
GRCh38 GRCh37 |
24 | 57 | |
FAM81B | - | - | - |
GRCh38 GRCh37 |
27 | 58 |
GLRX | - | - |
GRCh38 GRCh37 |
7 | 38 | |
GPR150 | - | - | - |
GRCh38 GRCh37 |
16 | 64 |
LINC01554 | - | - | - | GRCh38 | - | 11 |
LOC102724720 | - | - | - | GRCh38 | - | 11 |
LOC113002596 | - | - | - | GRCh38 | - | 11 |
LOC123497940 | - | - | - | GRCh38 | - | 19 |
LOC126807455 | - | - | - | GRCh38 | - | 15 |
There are 34 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 benign (1) |
|
Aug 2, 2011 | RCV000139042.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024