ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3
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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2373 | - | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
133 | - | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
157 | 208 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 76 | |
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 254 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
220 | - | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 352 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
854 | 1048 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
13 | 115 | |
APRT | - | - |
GRCh38 GRCh37 |
128 | 241 |
There are 711 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 | RCV000050840.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023