ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_122277634)_(124242579_?)del
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 | |||
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
597 | 699 | |
B3GNT4 | - | - |
GRCh38 GRCh37 |
27 | 81 | |
BCL7A | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 33 | |
CCDC62 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
CFAP251 | - | - |
GRCh38 GRCh37 |
105 | 132 | |
CLIP1 | - | - |
GRCh38 GRCh37 |
115 | 143 | |
DDX55 | - | - |
GRCh38 GRCh37 |
46 | 73 |
There are 29 more genes 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) |
|
May 4, 2022 | RCV003111519.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023