ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q22(chr17:55043662-56728123)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 | |||
AKAP1 | - | - |
GRCh38 GRCh37 |
70 | 83 | |
C17orf47 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
CUEDC1 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
DYNLL2 | - | - |
GRCh38 GRCh37 |
2 | 17 | |
DYNLL2-DT | - | - | - |
GRCh38 GRCh37 |
- | 15 |
EPX | - | - |
GRCh38 GRCh37 |
76 | 89 | |
HSF5 | - | - | - |
GRCh38 GRCh37 |
12 | 30 |
LPO | - | - |
GRCh38 GRCh37 |
42 | 55 | |
MKS1 | - | - |
GRCh38 GRCh37 |
943 | 1020 | |
MPO | - | - |
GRCh38 GRCh37 |
42 | 103 |
There are 13 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV002292214.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 22, 2022