ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 |
2490 | 2660 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
140 | 247 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
172 | 226 | |
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
153 | 306 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 367 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
295 | 366 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
879 | 1080 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
22 | 141 | |
APRT | - | - |
GRCh38 GRCh37 |
130 | 249 | |
ATP2C2-AS1 | - | - | - | GRCh38 | - | 114 |
There are 523 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
|
Likely pathogenic (1) |
|
Dec 2, 2011 | RCV000137980.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024