ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2(chr15:22633497-23084434)
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 | |||
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
272 | 681 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
56 | 389 | |
CYFIP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
112 | 452 | |
LOC112272575 | - | - | - |
GRCh38 GRCh38 |
- | 128 |
LOC112272576 | - | - | - | GRCh38 | - | 95 |
LOC126862074 | - | - | - |
GRCh38 GRCh38 |
- | 119 |
LOC130056707 | - | - | - |
GRCh38 GRCh38 |
- | 79 |
LOC130056708 | - | - | - |
GRCh38 GRCh38 |
- | 92 |
LOC130056709 | - | - | - |
GRCh38 GRCh38 |
- | 178 |
LOC130056710 | - | - | - |
GRCh38 GRCh38 |
- | 111 |
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) |
|
- | RCV003883419.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024