ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
172 | 225 | |
AKAP6 | - | - |
GRCh38 GRCh37 |
165 | 188 | |
AP4S1 | - | - |
GRCh38 GRCh37 |
133 | 167 | |
ARHGAP5 | - | - |
GRCh38 GRCh37 |
83 | 110 | |
ARHGAP5-AS1 | - | - | - | GRCh38 | - | 12 |
BAZ1A | - | - |
GRCh38 GRCh37 |
61 | 97 | |
BAZ1A-AS1 | - | - | - | GRCh38 | - | 17 |
BRMS1L | - | - |
GRCh38 GRCh37 |
8 | 39 | |
C14orf28 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
CFL2 | - | - |
GRCh38 GRCh37 |
141 | 181 |
There are 229 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) |
|
Aug 12, 2011 | RCV000052292.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023