ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2(chr14:18907993-19415424)x1
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 | |||
LINC01296 | - | - | - | GRCh38 | - | 10 |
LINC01297 | - | - | - | GRCh38 | - | 9 |
LINC01297-DUXAP10-NBEAP6 | - | - | - | GRCh38 | - | 10 |
LNCRNA-ATB | - | - | - | GRCh38 | - | 10 |
LOC100508046 | - | - | - | GRCh38 | - | 15 |
LOC129390611 | - | - | - | GRCh38 | - | 9 |
POTEG | - | - |
GRCh38 GRCh37 |
36 | 52 | |
POTEM | - | - | - |
GRCh38 GRCh37 |
40 | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Mar 8, 2011 | RCV000136403.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024