ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)
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 | |||
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 160 | |
ASIC2 | - | - |
GRCh38 GRCh37 |
36 | 59 | |
C17orf75 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
CDK5R1 | - | - |
GRCh38 GRCh37 |
13 | 26 | |
COPRS | - | - | - |
GRCh38 GRCh37 |
4 | 57 |
LRRC37B | - | - |
GRCh38 GRCh37 |
61 | 98 | |
MYO1D | - | - |
GRCh38 GRCh37 |
63 | 77 | |
PSMD11 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
RHBDL3 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
RHOT1 | - | - |
GRCh38 GRCh37 |
22 | 39 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2020 | RCV001260292.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023