ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)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 | |
BRMS1L | - | - |
GRCh38 GRCh37 |
4 | 35 | |
CLEC14A | - | - |
GRCh38 GRCh37 |
32 | 54 | |
FAM177A1 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
FBXO33 | - | - |
GRCh38 GRCh37 |
31 | 68 | |
FOXA1 | - | - |
GRCh38 GRCh37 |
28 | 61 | |
GEMIN2 | - | - |
GRCh38 GRCh37 |
11 | 44 | |
INSM2 | - | - |
GRCh38 GRCh37 |
24 | 51 | |
LINC00517 | - | - | - | GRCh38 | - | 14 |
LINC00609 | - | - | - | GRCh38 | - | 15 |
There are 105 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) |
|
Oct 10, 2011 | RCV000137841.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023