ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:28466730-30191848)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 | 896 | |
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
211 | 367 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 560 | |
APOBR | - | - |
GRCh38 GRCh37 |
43 | 131 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 313 |
ATP2A1 | - | - |
GRCh38 GRCh37 |
770 | 969 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
46 | 204 | |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 87 | |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 297 |
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) |
|
Oct 26, 2017 | RCV000846340.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022