ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_107019871)_(110266416_?)del
Germline
Classification
(2)
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 | |||
AFG1L | - | - |
GRCh38 GRCh37 |
43 | 73 | |
AK9 | - | - |
GRCh38 GRCh37 |
104 | 167 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
80 | 131 | |
BEND3 | - | - |
GRCh38 GRCh37 |
53 | 77 | |
CD164 | - | - |
GRCh38 GRCh37 |
96 | 129 | |
CEP57L1 | - | - | - |
GRCh38 GRCh37 |
37 | 58 |
FIG4 | - | - |
GRCh38 GRCh37 |
1006 | 1044 | |
FOXO3 | - | - |
GRCh38 GRCh37 |
55 | 81 | |
MICAL1 | - | - |
GRCh38 GRCh37 |
1012 | 1070 | |
MTRES1 | - | - |
GRCh38 GRCh37 |
3 | 28 |
There are 13 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003116781.6 | |
Uncertain significance (1) |
|
Feb 4, 2022 | RCV003116782.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024