ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.33(chr14:104915608-107285437)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 | |||
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
781 | 852 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
398 | 484 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1184 | 1254 | |
BRF1 | - | - |
GRCh38 GRCh37 |
153 | 344 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 120 |
C14orf180 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 67 | |
CDCA4 | - | - |
GRCh38 GRCh37 |
20 | 90 | |
CEP170B | - | - |
GRCh38 GRCh37 |
246 | 316 | |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 76 |
CRIP1 | - | - |
GRCh38 GRCh37 |
13 | 91 |
There are 26 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) |
|
Apr 19, 2015 | RCV000511076.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024