ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)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 |
2408 | 2572 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
137 | 235 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
161 | 212 | |
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 142 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 1, 2022 | RCV002286607.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024