ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1
Germline
Classification
(1)
conflicting data from submitters
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 | 682 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
56 | 390 | |
CYFIP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
112 | 453 | |
LOC112272575 | - | - | - |
GRCh38 GRCh38 |
- | 129 |
LOC112272576 | - | - | - | GRCh38 | - | 96 |
LOC126862074 | - | - | - |
GRCh38 GRCh38 |
- | 120 |
LOC130056707 | - | - | - |
GRCh38 GRCh38 |
- | 80 |
LOC130056708 | - | - | - |
GRCh38 GRCh38 |
- | 93 |
LOC130056709 | - | - | - |
GRCh38 GRCh38 |
- | 179 |
LOC130056710 | - | - | - |
GRCh38 GRCh38 |
- | 112 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
conflicting data from submitters (1) |
|
Sep 22, 2014 | RCV000142160.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024