ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p22(chr8:18081979-18646740)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 179 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
882 | 1017 | |
ASAH1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
LOC116186922 | - | - | - | GRCh38 | - | 45 |
LOC124153114 | - | - | - | GRCh38 | - | 45 |
LOC124153115 | - | - | - | GRCh38 | - | 44 |
LOC129999939 | - | - | - | GRCh38 | - | 47 |
LOC129999940 | - | - | - | GRCh38 | - | 83 |
NAT1 | - | - |
GRCh38 GRCh37 |
17 | 108 | |
NAT2 | - | - |
GRCh38 GRCh37 |
37 | 126 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 8, 2011 | RCV000137325.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024