ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)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 | |||
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
779 | 806 | |
PAX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
167 | 220 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 71 | |
AKAP6 | - | - |
GRCh38 GRCh37 |
114 | 139 | |
AP1G2 | - | - |
GRCh38 GRCh37 |
2 | 62 | |
AP1G2-AS1 | - | - | - | GRCh38 | - | 42 |
AP4S1 | - | - |
GRCh38 GRCh37 |
129 | 163 | |
ARHGAP5 | - | - |
GRCh38 GRCh37 |
54 | 82 | |
ARHGAP5-AS1 | - | - | - | GRCh38 | - | 12 |
BAZ1A | - | - |
GRCh38 GRCh37 |
43 | 78 |
There are 391 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) |
|
Aug 12, 2011 | RCV000051490.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023