ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3
Germline
Classification
(1)
Likely benign
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 | |||
CARD16 | - | - |
GRCh38 GRCh37 |
18 | 48 | |
CARD17 | - | - |
GRCh38 GRCh37 |
15 | 43 | |
CARD18 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
CASP1 | - | - |
GRCh38 GRCh37 |
40 | 70 | |
CASP12 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 61 | |
CASP4 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 54 | |
CASP5 | - | - |
GRCh38 GRCh37 |
28 | 63 | |
LINC02552 | - | - | - | GRCh38 | - | 7 |
LOC121392937 | - | - | - | GRCh38 | - | 12 |
LOC126861320 | - | - | - | GRCh38 | - | 6 |
There are 8 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
|
Likely benign (1) |
|
Apr 30, 2011 | RCV000139988.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023