ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1
Germline
Classification
(1)
Pathogenic
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 | |||
MEG3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
46 | 86 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 97 | |
BEGAIN | - | - |
GRCh38 GRCh37 |
26 | 66 | |
DEGS2 | - | - |
GRCh38 GRCh37 |
19 | 51 | |
EML1 | - | - |
GRCh38 GRCh37 |
146 | 200 | |
EVL | - | - |
GRCh38 GRCh37 |
25 | 57 | |
LINC00523 | - | - | - | GRCh38 | - | 20 |
LOC112163680 | - | - | - | GRCh38 | - | 15 |
LOC112163681 | - | - | - | GRCh38 | - | 18 |
LOC112163682 | - | - | - | GRCh38 | - | 20 |
There are 122 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000142774.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024