ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
Germline
Classification
(1)
Pathogenic
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 | |||
UBE3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | - | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | - | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | - | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | - | |
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | - | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | - | |
SNORD107 | - | No evidence available | No evidence available | GRCh38 | - | - |
SNORD108 | - | No evidence available | No evidence available | GRCh38 | - | - |
There are 155 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) |
|
Aug 24, 2023 | RCV003327724.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024