ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1
Germline
Classification
(1)
Likely 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 | |||
CLTC | - | - |
GRCh38 GRCh37 |
734 | 869 | |
DHX40 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
MIR21 | - | - |
GRCh38 GRCh37 |
- | 13 | |
PTRH2 | - | - |
GRCh38 GRCh37 |
33 | 50 | |
RPS6KB1 | - | - |
GRCh38 GRCh37 |
15 | 29 | |
TUBD1 | - | - |
GRCh38 GRCh37 |
25 | 39 | |
VMP1 | - | - |
GRCh38 GRCh37 |
10 | 27 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 27, 2019 | RCV001006908.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022