ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)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 | 2537 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
133 | 230 | |
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 |
121 | 254 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
220 | 334 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
286 | 352 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
854 | 1048 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
13 | 115 | |
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1065 | 1176 |
There are 773 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 | RCV000052423.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023