ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
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 | 2414 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1883 | 2017 | |
ALKBH5 | - | - |
GRCh38 GRCh37 |
9 | 132 | |
ATPAF2 | - | - |
GRCh38 GRCh37 |
152 | 301 | |
COPS3 | - | - |
GRCh38 GRCh37 |
7 | 128 | |
DRC3 | - | - |
GRCh38 GRCh37 |
18 | 148 | |
DRG2 | - | - |
GRCh38 GRCh37 |
14 | 138 | |
FLII | - | - |
GRCh38 GRCh38 GRCh37 |
104 | 228 | |
GID4 | - | - |
GRCh38 GRCh37 |
3 | 134 | |
LLGL1 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 181 |
There are 12 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 2017 | RCV000626512.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023