ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q14.11(chr13:42684429-43246957)x1
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 | |||
DNAJC15 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
ENOX1 | - | - |
GRCh38 GRCh37 |
47 | 104 | |
EPSTI1 | - | - |
GRCh38 GRCh37 |
39 | 101 | |
FAM216B | - | - | - |
GRCh38 GRCh37 |
10 | 66 |
LINC00400 | - | - | - | GRCh38 | - | 31 |
LINC00428 | - | - | - | GRCh38 | - | 30 |
LINC01050 | - | - | - | GRCh38 | - | 30 |
LOC108281153 | - | - | - | GRCh38 | - | 31 |
LOC126861754 | - | - | - | GRCh38 | - | 29 |
LOC130009664 | - | - | - | GRCh38 | - | 29 |
There are 13 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) |
|
Jul 18, 2014 | RCV000140040.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024