ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)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 | |||
PAX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
170 | - | |
BAZ1A | - | - |
GRCh38 GRCh37 |
56 | - | |
BAZ1A-AS1 | - | - | - | GRCh38 | - | 17 |
BRMS1L | - | - |
GRCh38 GRCh37 |
7 | - | |
CFL2 | - | - |
GRCh38 GRCh37 |
- | 180 | |
CLEC14A | - | - |
GRCh38 GRCh37 |
33 | - | |
EAPP | - | - |
GRCh38 GRCh37 |
15 | - | |
EGLN3 | - | - |
GRCh38 GRCh37 |
6 | 29 | |
EGLN3-AS1 | - | - | - | GRCh38 | - | 12 |
FAM177A1 | - | - |
GRCh38 GRCh37 |
13 | 48 |
There are 148 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) |
|
Nov 27, 2013 | RCV000142211.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024