ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2(chr15:22542702-23121344)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 | |||
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
271 | 667 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
48 | 369 | |
CYFIP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
91 | 415 | |
LOC112272575 | - | - | - |
GRCh38 GRCh38 |
- | 119 |
LOC112272576 | - | - | - | GRCh38 | - | 91 |
LOC126862074 | - | - | - |
GRCh38 GRCh38 |
- | 114 |
LOC130056707 | - | - | - |
GRCh38 GRCh38 |
- | 76 |
LOC130056708 | - | - | - |
GRCh38 GRCh38 |
- | 89 |
LOC130056709 | - | - | - |
GRCh38 GRCh38 |
- | 172 |
LOC130056710 | - | - | - |
GRCh38 GRCh38 |
- | 106 |
There are 10 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) |
|
Nov 30, 2023 | RCV003444177.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023