ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:103823600-106879298)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 |
764 | 833 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
392 | 472 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1061 | 1129 | |
ASPG | - | - |
GRCh38 GRCh37 |
38 | 98 | |
ATP5MJ | - | - |
GRCh38 GRCh37 |
1 | 59 | |
BRF1 | - | - |
GRCh38 GRCh37 |
145 | 328 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 114 |
C14orf180 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 65 | |
CDCA4 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
CEP170B | - | - |
GRCh38 GRCh37 |
214 | 282 |
There are 248 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) |
|
Dec 10, 2012 | RCV000142803.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024