ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3
Germline
Classification
(1)
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 | |||
LOC130065956 | - | - | - | GRCh38 | - | 6 |
LOC130065957 | - | - | - | GRCh38 | - | 4 |
LOC130065958 | - | - | - | GRCh38 | - | 4 |
LOC130065959 | - | - | - | GRCh38 | - | 4 |
LOC130065960 | - | - | - | GRCh38 | - | 4 |
LOC130065961 | - | - | - | GRCh38 | - | 4 |
LOC130065962 | - | - | - | GRCh38 | - | 4 |
MATN4 | - | - |
GRCh38 GRCh37 |
61 | 78 | |
RBPJL | - | - |
GRCh38 GRCh37 |
42 | 66 | |
SDC4 | - | - |
GRCh38 GRCh37 |
13 | 29 |
There are 3 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
|
Benign (1) |
|
Oct 14, 2010 | RCV000135905.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024