ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1
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 |
13569 | 13970 | |
TAOK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
148 | 164 | |
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
66 | 83 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
80 | 143 | |
SLC6A4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
120 | 142 | |
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
105 | 156 | |
ABHD15 | - | - |
GRCh38 GRCh37 |
20 | 39 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 78 | |
ANKRD13B | - | - |
GRCh38 GRCh37 |
19 | 33 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
98 | 164 |
There are 194 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 10, 2012 | RCV000143027.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023