ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
ARPP21 | - | - |
GRCh38 GRCh37 |
50 | 66 | |
ARPP21-AS1 | - | - | - | GRCh38 | - | 6 |
CLASP2 | - | - |
GRCh38 GRCh37 |
70 | 91 | |
CRTAP | - | - |
GRCh38 GRCh37 |
581 | 661 | |
DCLK3 | - | - |
GRCh38 GRCh37 |
36 | 49 | |
FBXL2 | - | - |
GRCh38 GRCh37 |
8 | 41 | |
GLB1 | - | - |
GRCh38 GRCh37 |
1052 | 1165 | |
LINC01811 | - | - | - | GRCh38 | - | 7 |
LINC02033 | - | - | - | GRCh38 | - | 5 |
LOC101928135 | - | - | - | GRCh38 | - | 6 |
There are 46 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051510.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024