ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1
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 | |||
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
134 | 183 | |
COPRS | - | - | - |
GRCh38 GRCh37 |
7 | 62 |
LOC108783653 | - | - | - | GRCh38 | - | 15 |
LOC112529907 | - | - | - | GRCh38 | - | 16 |
LOC121587586 | - | - | - | GRCh38 | - | 16 |
LOC125177455 | - | - | - | GRCh38 | - | 16 |
LOC126862531 | - | - | - | GRCh38 | - | 16 |
LOC130060658 | - | - | - | GRCh38 | - | 16 |
LOC130060659 | - | - | - | GRCh38 | - | 16 |
LOC130060660 | - | - | - | GRCh38 | - | 16 |
There are 18 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 26, 2011 | RCV000137707.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024