ClinVar Genomic variation as it relates to human health
NC_000021.9:g.(25431701_?)_(?_26466216)dup
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 | |||
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
444 | 552 | |
APP-DT | - | - | - | GRCh38 | - | 42 |
ATP5PF | - | - |
GRCh38 GRCh37 |
4 | 71 | |
CYYR1 | - | - |
GRCh38 GRCh37 |
2 | 72 | |
CYYR1-AS1 | - | - | GRCh38 | - | 42 | |
GABPA | - | - |
GRCh38 GRCh37 |
14 | 82 | |
JAM2 | - | - |
GRCh38 GRCh37 |
42 | 109 | |
LINC00158 | - | - | - | GRCh38 | - | 39 |
LINC00515 | - | - | - | GRCh38 | - | 38 |
LOC105372753 | - | - | - | GRCh38 | - | 38 |
There are 33 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 2, 2008 | RCV000019732.27 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024
NCBI staff provided an HGVS expression for OMIM allelic variant 104760.0020 from the minimal duplicated region reported in Figure 1 of the paper by Rovelet-Lecrux et al., 2006 (PubMed 16369530) in which C21orf42 (LINC00158) and CYYR1 were not duplicated. This duplication has also been described in VCV001807236.