ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)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 | |
SETD1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
428 | 451 | |
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
211 | 367 | |
SRCAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1469 | 1491 | |
AHSP | - | - |
GRCh38 GRCh37 |
9 | 21 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 560 | |
APOBR | - | - |
GRCh38 GRCh37 |
43 | 131 | |
AQP8 | - | - |
GRCh38 GRCh37 |
25 | 57 | |
ARHGAP17 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 80 | |
ARMC5 | - | - |
GRCh38 GRCh37 |
174 | 214 |
There are 496 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) |
|
Apr 30, 2011 | RCV000141141.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023