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 |
13559 | 13966 | |
TAOK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 166 | |
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 82 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
87 | 147 | |
SLC6A4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
124 | 144 | |
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 160 | |
ABHD15 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 80 | |
ANKRD13B | - | - |
GRCh38 GRCh37 |
26 | 37 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
120 | 179 |
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