ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)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 |
2334 | 2454 | |
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
403 | 521 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1895 | 2026 | |
ADORA2B | - | - |
GRCh38 GRCh37 |
23 | 69 | |
ARHGAP44 | - | - |
GRCh38 GRCh37 |
43 | 55 | |
ARHGAP44-AS1 | - | - | - | GRCh38 | - | 24 |
CCDC144A | - | - |
GRCh38 GRCh37 |
53 | 124 | |
CDRT15 | - | - | - |
GRCh38 GRCh37 |
12 | 111 |
CDRT3 | - | - | - | GRCh38 | - | 32 |
CDRT4 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
There are 234 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 | RCV000052476.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023