ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_16850399)_(20112692_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 172 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
872 | 1006 | |
ASAH1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 95 |
ATP6V1B2 | - | - |
GRCh38 GRCh37 |
95 | 189 | |
CNOT7 | - | - |
GRCh38 GRCh37 |
5 | 94 | |
CSGALNACT1 | - | - |
GRCh38 GRCh37 |
283 | 381 | |
FGF20 | - | - |
GRCh38 GRCh37 |
68 | 171 | |
FGL1 | - | - |
GRCh38 GRCh37 |
35 | 129 | |
INTS10 | - | - |
GRCh38 GRCh37 |
32 | 118 | |
LPL | - | - |
GRCh38 GRCh37 |
752 | 839 |
There are 13 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 2, 2022 | RCV003120735.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024