ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p11.2(chr17:16734558-20390697)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 |
2334 | 2454 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1894 | 2025 | |
AKAP10 | - | - |
GRCh38 GRCh37 |
40 | 153 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
29 | 140 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
625 | 747 | |
ALKBH5 | - | - |
GRCh38 GRCh37 |
12 | 131 | |
ATPAF2 | - | - |
GRCh38 GRCh37 |
154 | 301 | |
B9D1 | - | - |
GRCh38 GRCh37 |
198 | 335 | |
CCDC144A | - | - |
GRCh38 GRCh37 |
53 | 124 | |
COPS3 | - | - |
GRCh38 GRCh37 |
12 | 130 |
There are 240 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) |
|
Oct 30, 2010 | RCV000135998.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023