ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q22(chr17:56958745-58171125)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 | |||
AKAP1 | - | - |
GRCh38 GRCh37 |
77 | 90 | |
AKAP1-DT | - | - | - | GRCh38 | - | 4 |
CCDC182 | - | - | - | GRCh38 | - | 5 |
COIL | - | - |
GRCh38 GRCh37 |
38 | 51 | |
CUEDC1 | - | - |
GRCh38 GRCh37 |
- | 16 | |
DYNLL2 | - | - |
GRCh38 GRCh37 |
4 | 19 | |
DYNLL2-DT | - | - | - |
GRCh38 GRCh37 |
- | 15 |
LOC101927539 | - | - | - | GRCh38 | - | 5 |
LOC101927557 | - | - | - | GRCh38 | - | 5 |
LOC112533652 | - | - | - | GRCh38 | - | 5 |
There are 68 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053434.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024