ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3
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 | |||
AMBRA1 | - | - |
GRCh38 GRCh37 |
65 | 98 | |
ARHGAP1 | - | - |
GRCh38 GRCh37 |
29 | 53 | |
ATG13 | - | - |
GRCh38 GRCh37 |
28 | 52 | |
CHRM4 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
CKAP5 | - | - |
GRCh38 GRCh37 |
73 | 90 | |
CREB3L1 | - | - |
GRCh38 GRCh37 |
272 | 291 | |
DGKZ | - | - |
GRCh38 GRCh37 |
364 | 400 | |
F2 | - | - |
GRCh38 GRCh37 |
347 | 369 | |
HARBI1 | - | - |
GRCh38 GRCh37 |
21 | 46 | |
MDK | - | - |
GRCh38 GRCh37 |
2 | 24 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 30, 2018 | RCV000846414.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022