ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)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 |
59 | 98 | |
DYNC1H1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4356 | 4586 | |
BEGAIN | - | - |
GRCh38 GRCh37 |
26 | 66 | |
CINP | - | - |
GRCh38 GRCh37 |
2 | 54 | |
DIO3 | - | - |
GRCh38 GRCh37 |
15 | 51 | |
DIO3OS | - | - |
GRCh38 GRCh37 |
- | 36 | |
HSP90AA1 | - | - |
GRCh38 GRCh37 |
24 | 70 | |
LINC00239 | - | - | - | GRCh38 | - | 18 |
LINC00523 | - | - | - | GRCh38 | - | 20 |
There are 207 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) |
|
Sep 21, 2012 | RCV000139723.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024