ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1
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 | |||
FLCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2398 | 2518 | |
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
405 | 523 | |
ADORA2B | - | - |
GRCh38 GRCh37 |
23 | 69 | |
CCDC144A | - | - |
GRCh38 GRCh37 |
63 | 134 | |
CDRT3 | - | - | - | GRCh38 | - | 32 |
CDRT4 | - | - | - |
GRCh38 GRCh37 |
- | 119 |
CDRT8 | - | - | - | GRCh38 | - | 27 |
CENPV | - | - |
GRCh38 GRCh37 |
5 | 63 | |
COPS3 | - | - |
GRCh38 GRCh37 |
12 | 130 | |
FAM106C | - | - | - | GRCh38 | - | 41 |
There are 129 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
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000143046.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024