ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3
Germline
Classification
(1)
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 |
2461 | 2631 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
140 | 246 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
170 | 224 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
35 | 88 | |
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
152 | 305 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
243 | 362 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
292 | 363 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
878 | 1078 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
22 | 141 | |
APRT | - | - |
GRCh38 GRCh37 |
130 | 249 |
There are 95 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 20, 2017 | RCV000683845.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024