ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1
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 | |||
UBE3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
36 | 1213 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
935 | 1238 | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 367 |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 499 | |
GABRB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
636 | 950 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
71 | 374 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
40 | 342 | |
SNORD107 | - | No evidence available | No evidence available | GRCh38 | - | 153 |
SNORD108 | - | No evidence available | No evidence available | GRCh38 | - | 154 |
SNORD109B | - | No evidence available | No evidence available | GRCh38 | - | 153 |
There are 135 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) |
|
Mar 10, 2014 | RCV000142233.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024