ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.2(chr11:46248477-46748132)
Germline
Classification
(1)
Uncertain significance
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 | |||
AMBRA1 | - | - |
GRCh38 GRCh37 |
65 | 98 | |
ARHGAP1 | - | - |
GRCh38 GRCh37 |
29 | 53 | |
ATG13 | - | - |
GRCh38 GRCh37 |
28 | 52 | |
CHRM4 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
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 | |
ZNF408 | - | - |
GRCh38 GRCh37 |
517 | 562 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052926.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022