ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3
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 | |||
FLCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2292 | 2412 | |
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
402 | 518 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1885 | 2016 | |
ADORA2B | - | - |
GRCh38 GRCh37 |
18 | 64 | |
AKAP10 | - | - |
GRCh38 GRCh37 |
29 | 142 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
24 | 135 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
619 | 741 | |
ALKBH5 | - | - |
GRCh38 GRCh37 |
9 | 128 | |
ATPAF2 | - | - |
GRCh38 GRCh37 |
152 | 297 | |
B9D1 | - | - |
GRCh38 GRCh37 |
198 | 334 |
There are 329 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051852.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023