ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)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 | |||
MAX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
390 | 535 | |
AKAP5 | - | - |
GRCh38 GRCh37 |
- | 40 | |
CHURC1 | - | - |
GRCh38 GRCh37 |
- | 23 | |
CHURC1-FNTB | - | - | - |
GRCh38 GRCh37 |
- | 62 |
ESR2 | - | - |
GRCh38 GRCh37 |
137 | 153 | |
FNTB | - | - |
GRCh38 GRCh37 |
- | 31 | |
FUT8 | - | - |
GRCh38 GRCh37 |
116 | 130 | |
FUT8-AS1 | - | - | - | GRCh38 | - | 7 |
GPHB5 | - | - |
GRCh38 GRCh37 |
- | 21 | |
GPX2 | - | - |
GRCh38 GRCh37 |
- | 26 |
There are 122 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) |
|
Mar 26, 2012 | RCV000138250.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023