ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1
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 |
2383 | 2503 | |
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1905 | 2036 | |
ALKBH5 | - | - |
GRCh38 GRCh37 |
14 | 133 | |
ATPAF2 | - | - |
GRCh38 GRCh37 |
155 | 302 | |
COPS3 | - | - |
GRCh38 GRCh37 |
12 | 130 | |
DRC3 | - | - |
GRCh38 GRCh37 |
33 | 161 | |
DRG2 | - | - |
GRCh38 GRCh37 |
17 | 137 | |
EVPLL | - | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 138 |
FLII | - | - |
GRCh38 GRCh38 GRCh37 |
131 | 250 | |
GID4 | - | - |
GRCh38 GRCh37 |
5 | 135 |
There are 15 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) |
|
Aug 29, 2018 | RCV000790581.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023