ClinVar Genomic variation as it relates to human health
NC_000015.10:g.22804175_30375696dup
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 |
34 | 1202 | |
MAGEL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
909 | 1210 | |
SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 364 |
ATP10A | No evidence available | No evidence available |
GRCh38 GRCh37 |
180 | 486 | |
GABRB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
624 | 937 | |
MKRN3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
68 | 370 | |
NDN | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
38 | 338 | |
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
271 | 671 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 378 | |
SNORD107 | - | No evidence available | No evidence available | GRCh38 | - | 152 |
There are 176 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 5, 2020 | RCV001420629.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023