ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_33241563)_(46663513_?)dup
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 | |||
SLC2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1041 | 1082 | |
HIVEP3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
89 | 103 | |
EXO5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
42 | 58 | |
COL9A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
986 | 1043 | |
A3GALT2 | - | - |
GRCh38 GRCh37 |
2 | 13 | |
ADPRS | - | - |
GRCh38 GRCh37 |
60 | 73 | |
AGO1 | - | - |
GRCh38 GRCh37 |
81 | 104 | |
AGO3 | - | - |
GRCh38 GRCh37 |
39 | 57 | |
AGO4 | - | - |
GRCh38 GRCh37 |
29 | 43 | |
AIRIM | - | - |
GRCh38 GRCh37 |
1 | 9 |
There are 171 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 5, 2018 | RCV000708276.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024