ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:16727264-20395889)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 |
2404 | 2524 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2059 | 2190 | |
AKAP10 | - | - |
GRCh38 GRCh37 |
49 | 162 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
30 | 141 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
638 | 760 | |
ALKBH5 | - | - |
GRCh38 GRCh37 |
14 | 133 | |
ATPAF2 | - | - |
GRCh38 GRCh37 |
156 | 303 | |
B9D1 | - | - |
GRCh38 GRCh37 |
201 | 338 | |
COPS3 | - | - |
GRCh38 GRCh37 |
12 | 130 | |
DRC3 | - | - |
GRCh38 GRCh37 |
33 | 161 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 6, 2015 | RCV000511111.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024