ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)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 |
40 | 1229 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1034 | 1337 | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 370 |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
197 | 504 | |
GABRB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
644 | 958 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
71 | 374 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
41 | 343 | |
SNRPN | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 399 | |
GABRA5 | - | - |
GRCh38 GRCh37 |
71 | 381 | |
GABRG3 | - | - |
GRCh38 GRCh37 |
30 | 334 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 11, 2021 | RCV000683643.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023