ClinVar Genomic variation as it relates to human health
NC_000017.11:g.30660608_31159168inv
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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13560 | 13967 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
87 | 147 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 80 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
120 | 179 | |
CRLF3 | - | - |
GRCh38 GRCh37 |
16 | 73 | |
LOC108281169 | - | - | - |
GRCh38 GRCh38 |
- | 30 |
LOC108281170 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
LOC108771181 | - | - | - | GRCh38 | - | 11 |
LOC108783647 | - | - | - |
GRCh38 GRCh38 |
- | 17 |
LOC108783652 | - | - | - | GRCh38 | - | 22 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002223747.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023