ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
AQP8 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
ARHGAP17 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 78 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 310 |
ATP2A1 | - | - |
GRCh38 GRCh37 |
764 | 960 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 200 |
There are 401 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) |
|
Aug 12, 2011 | RCV000052401.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023