ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_23730704)_(28530182_?)del
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 | 1234 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1055 | 1359 | |
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 |
649 | 963 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
72 | 376 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
41 | 344 | |
SNRPN | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 400 | |
GABRA5 | - | - |
GRCh38 GRCh37 |
76 | 386 | |
GABRG3 | - | - |
GRCh38 GRCh37 |
30 | 334 |
There are 13 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) |
|
Aug 21, 2013 | RCV000191153.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022