ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1
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 |
167 | 218 | |
BAZ1A | - | - |
GRCh38 GRCh37 |
56 | 92 | |
BRMS1L | - | - |
GRCh38 GRCh37 |
7 | 38 | |
CFL2 | - | - |
GRCh38 GRCh37 |
140 | 180 | |
EAPP | - | - |
GRCh38 GRCh37 |
15 | 41 | |
FAM177A1 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
INSM2 | - | - |
GRCh38 GRCh37 |
35 | 62 | |
MBIP | - | - |
GRCh38 GRCh37 |
12 | 45 | |
NFKBIA | - | - |
GRCh38 GRCh37 |
228 | 322 | |
NKX2-1 | - | - |
GRCh38 GRCh37 |
2 | 349 |
There are 11 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 2, 2023 | RCV003483199.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024