ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)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 | 1209 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
898 | 1205 | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 366 |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
152 | 464 | |
GABRB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
625 | 946 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
65 | 373 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
35 | 341 | |
SNORD107 | - | No evidence available | No evidence available | GRCh38 | - | 152 |
SNORD108 | - | No evidence available | No evidence available | GRCh38 | - | 153 |
SNORD109B | - | No evidence available | No evidence available | GRCh38 | - | 152 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 11, 2013 | RCV000140888.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023