ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.2(chr14:100236766-100743192)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 | |||
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
63 | 102 | |
BEGAIN | - | - |
GRCh38 GRCh37 |
30 | 71 | |
LINC00523 | - | - | - | GRCh38 | - | 20 |
LOC112163681 | - | - | - | GRCh38 | - | 18 |
LOC125078038 | - | - | - | GRCh38 | - | 18 |
LOC126862048 | - | - | - | GRCh38 | - | 18 |
LOC126862049 | - | - | - | GRCh38 | - | 20 |
LOC126862050 | - | - | - | GRCh38 | - | 20 |
LOC130056452 | - | - | - | GRCh38 | - | 17 |
LOC130056453 | - | - | - | GRCh38 | - | 21 |
There are 29 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000140891.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024