ClinVar Genomic variation as it relates to human health
NC_000002.12:g.(?_110649261)_(112345017_?)del
Germline
Classification
(1)
Likely 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 | |||
BCL2L11 | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 80 | |
ACOXL | - | - | - |
GRCh38 GRCh37 |
39 | 108 |
ACOXL-AS1 | - | - | - | GRCh38 | - | 16 |
ANAPC1 | - | - |
GRCh38 GRCh37 |
125 | 201 | |
BUB1 | - | - |
GRCh38 GRCh37 |
1280 | 1340 | |
FBLN7 | - | - |
GRCh38 GRCh37 |
35 | 108 | |
LOC105373559 | - | - | - | GRCh38 | - | 17 |
LOC112806037 | - | - | - | GRCh38 | - | 61 |
LOC115945185 | - | - | - | GRCh38 | - | 15 |
LOC120961779 | - | - | - | GRCh38 | - | 16 |
There are 42 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 22, 2015 | RCV000208701.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024