ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13558 | 13948 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
79 | 139 | |
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
107 | 155 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 74 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
98 | 157 | |
COPRS | - | - | - |
GRCh38 GRCh37 |
3 | 55 |
CRLF3 | - | - |
GRCh38 GRCh37 |
14 | 70 | |
EVI2A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 131 | |
EVI2B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 142 | |
LOC106113037 | - | - | - | GRCh38 | - | 6 |
There are 62 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 14, 2018 | RCV000142123.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023