ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)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 |
48 | 88 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
63 | 102 | |
BEGAIN | - | - |
GRCh38 GRCh37 |
30 | 71 | |
DEGS2 | - | - |
GRCh38 GRCh37 |
23 | 56 | |
EML1 | - | - |
GRCh38 GRCh37 |
155 | 210 | |
EVL | - | - |
GRCh38 GRCh37 |
26 | 59 | |
MEG8 | - | - |
GRCh38 GRCh37 |
3 | 42 | |
MIR127 | - | - |
GRCh38 GRCh37 |
- | 40 | |
MIR136 | - | - |
GRCh38 GRCh37 |
- | 40 | |
MIR370 | - | - |
GRCh38 GRCh37 |
- | 38 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 15, 2023 | RCV003325926.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023