ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3
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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6474 | 6512 | |
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
207 | 277 | |
MEG3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
48 | 88 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
781 | 852 | |
CALM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 163 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
63 | 102 | |
DYNC1H1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4399 | 4634 | |
ABCD4 | - | - |
GRCh38 GRCh37 |
428 | 450 | |
ACOT1 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ACOT2 | - | - |
GRCh38 GRCh37 |
- | 64 |
There are 253 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000512497.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024