ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)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 | |||
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
138 | 238 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 216 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
31 | 84 | |
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
143 | 289 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
20 | 133 | |
ARLNC1 | - | - | GRCh38 | - | 21 | |
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
ATP2C2-AS1 | - | - | - | GRCh38 | - | 107 |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
83 | 146 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 68 |
There are 439 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 | RCV000053359.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023