ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)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 |
2416 | 2580 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
138 | 236 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
162 | 213 | |
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
31 | 84 | |
ATP2C2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
143 | 288 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
235 | 349 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
288 | 354 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
858 | 1052 | |
ADAD2 | - | - |
GRCh38 GRCh37 |
20 | 132 | |
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1078 | 1189 |
There are 1023 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) |
|
May 12, 2011 | RCV000137495.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024