ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)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 | |||
CLRN3 | - | - | - |
GRCh38 GRCh37 |
20 | 107 |
DOCK1 | - | - |
GRCh38 GRCh37 |
99 | 243 | |
EBF3 | - | - |
GRCh38 GRCh37 |
222 | 324 | |
FOXI2 | - | - |
GRCh38 GRCh37 |
33 | 123 | |
INSYN2A | - | - |
GRCh38 GRCh37 |
- | 119 | |
MGMT | - | - |
GRCh38 GRCh37 |
30 | 132 | |
MKI67 | - | - |
GRCh38 GRCh37 |
258 | 345 | |
NPS | - | - |
GRCh38 GRCh37 |
4 | 93 | |
PTPRE | - | - |
GRCh38 GRCh37 |
29 | 123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 27, 2021 | RCV002472530.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022