ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q13.3(chr14:36533448-37341419)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 |
167 | 218 | |
LOC108281111 | - | - | - | GRCh38 | - | 26 |
LOC110120902 | - | - | - | GRCh38 | - | 16 |
LOC124995371 | - | - | - | GRCh38 | - | 17 |
LOC126861919 | - | - | - | GRCh38 | - | 17 |
LOC126861920 | - | - | - | GRCh38 | - | 16 |
LOC130055504 | - | - | - | GRCh38 | - | 17 |
MIPOL1 | - | - |
GRCh38 GRCh37 |
31 | 76 | |
MIR4503 | - | - | - | GRCh38 | - | 16 |
NKX2-8 | - | - |
GRCh38 GRCh37 |
28 | 66 |
There are 2 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) |
|
Apr 30, 2011 | RCV000139965.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023