ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p11.2(chr16:29653208-30162533)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 | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 896 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 560 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 313 |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 297 | |
CDIPT | - | - |
GRCh38 GRCh37 |
13 | 298 | |
CDIPTOSP | - | - | - | GRCh38 | - | 125 |
DOC2A | - | - |
GRCh38 GRCh37 |
31 | 315 | |
GDPD3 | - | - |
GRCh38 GRCh37 |
22 | 311 | |
HIRIP3 | - | - |
GRCh38 GRCh37 |
46 | 330 |
There are 81 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
|
Pathogenic (1) |
|
Feb 5, 2018 | RCV000054288.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024