ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
6213 | 6251 | |
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
175 | 242 | |
MEG3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
46 | 86 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
729 | 798 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 87 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
379 | 452 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
854 | 922 | |
AK7 | - | - |
GRCh38 GRCh37 |
323 | 354 | |
AMN | - | - |
GRCh38 GRCh37 |
448 | 623 | |
ANKRD9 | - | - |
GRCh38 GRCh37 |
26 | 81 |
There are 1063 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) |
|
Aug 12, 2011 | RCV000052295.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023