ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:104051258-106877229)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 |
765 | 836 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
394 | 477 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1076 | 1146 | |
ASPG | - | - |
GRCh38 GRCh37 |
38 | 100 | |
BRF1 | - | - |
GRCh38 GRCh37 |
146 | 334 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 117 |
C14orf180 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 67 | |
CDCA4 | - | - |
GRCh38 GRCh37 |
19 | 89 | |
CEP170B | - | - |
GRCh38 GRCh37 |
215 | 285 | |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 76 |
There are 233 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 18, 2014 | RCV000142333.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024