ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)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 | 890 | |
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
205 | 359 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 557 | |
APOBR | - | - |
GRCh38 GRCh37 |
36 | 123 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 310 |
ATP2A1 | - | - |
GRCh38 GRCh37 |
764 | 960 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 200 | |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 86 | |
BOLA2-SMG1P6 | - | - | - | GRCh38 | - | 29 |
There are 171 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) |
|
Feb 5, 2018 | RCV000054346.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024