ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.2(chr17:29393104-30427403)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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13562 | 13971 | |
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 162 | |
COPRS | - | - | - |
GRCh38 GRCh37 |
4 | 58 |
EVI2A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 135 | |
EVI2B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 153 | |
LRRC37B | - | - |
GRCh38 GRCh37 |
61 | 99 | |
MIR193A | - | - |
GRCh38 GRCh37 |
1 | 50 | |
OMG | - | - |
GRCh38 GRCh38 GRCh37 |
- | 136 | |
RAB11FIP4 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 77 | |
UTP6 | - | - | - |
GRCh38 GRCh37 |
41 | 88 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 12, 2019 | RCV001194568.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022