ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:28488319-30178406)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 | 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 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 200 | |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 86 | |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 274 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 294 |
There are 36 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) |
|
Jan 4, 2021 | RCV001258616.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022