ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3
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 |
36 | 1208 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
917 | 1220 | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 365 |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
180 | 487 | |
GABRB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
632 | 946 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
68 | 371 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
38 | 340 | |
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
272 | 680 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 386 | |
SNORD107 | - | No evidence available | No evidence available | GRCh38 | - | 153 |
There are 187 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053207.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024