ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1
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 | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 894 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 559 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 312 |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 87 | |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 296 | |
CDIPT | - | - |
GRCh38 GRCh37 |
13 | 298 | |
DOC2A | - | - |
GRCh38 GRCh37 |
30 | 314 | |
GDPD3 | - | - |
GRCh38 GRCh37 |
20 | 309 | |
HIRIP3 | - | - |
GRCh38 GRCh37 |
41 | 325 |
There are 19 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) |
|
Apr 30, 2019 | RCV000683807.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022