ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q14.11(chr13:42786307-43325066)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 | |||
DNAJC15 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
ENOX1 | - | - |
GRCh38 GRCh37 |
42 | 99 | |
EPSTI1 | - | - |
GRCh38 GRCh37 |
33 | 95 | |
FAM216B | - | - | - |
GRCh38 GRCh37 |
9 | 65 |
LINC00400 | - | - | - | GRCh38 | - | 31 |
LINC00428 | - | - | - | GRCh38 | - | 30 |
LINC01050 | - | - | - | GRCh38 | - | 30 |
LOC108281153 | - | - | - | GRCh38 | - | 31 |
LOC130009665 | - | - | - | GRCh38 | - | 30 |
LOC130009666 | - | - | - | GRCh38 | - | 31 |
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
|
Uncertain significance (1) |
|
Jan 23, 2012 | RCV000138128.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024