ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q12.2(chr16:55103496-56391061)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 | |||
GNAO1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
470 | 509 | |
AMFR | - | - |
GRCh38 GRCh37 |
31 | 64 | |
CAPNS2 | - | - |
GRCh38 GRCh37 |
- | 34 | |
CES1 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 56 | |
CES5A | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 61 | |
IRX6 | - | - |
GRCh38 GRCh37 |
48 | 71 | |
LPCAT2 | - | - |
GRCh38 GRCh37 |
21 | 56 | |
MMP2 | - | - |
GRCh38 GRCh37 |
347 | 371 | |
SLC6A2 | - | - |
GRCh38 GRCh37 |
71 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 19, 2022 | RCV002284257.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023