ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3
Germline
Classification
(1)
Likely 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 |
402 | 549 | |
AKAP5 | - | - |
GRCh38 GRCh37 |
- | 46 | |
CHURC1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
CHURC1-FNTB | - | - | - |
GRCh38 GRCh37 |
- | 65 |
ESR2 | - | - |
GRCh38 GRCh37 |
144 | 161 | |
FNTB | - | - |
GRCh38 GRCh37 |
- | 31 | |
GPHB5 | - | - |
GRCh38 GRCh37 |
- | 21 | |
GPX2 | - | - |
GRCh38 GRCh37 |
- | 26 | |
HIF1A | - | - |
GRCh38 GRCh37 |
1 | 83 | |
HIF1A-AS2 | - | - |
GRCh38 GRCh37 |
- | 20 |
There are 21 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2019 | RCV001259780.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022