ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_117647788)_(120797526_?)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 | |||
EXT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
957 | 1028 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
355 | 416 | |
AARD | - | - | - |
GRCh38 GRCh37 |
4 | 61 |
CCN3 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
COLEC10 | - | - |
GRCh38 GRCh37 |
20 | 84 | |
EIF3H | - | - |
GRCh38 GRCh37 |
12 | 73 | |
ENPP2 | - | - |
GRCh38 GRCh37 |
54 | 115 | |
MAL2 | - | - |
GRCh38 GRCh37 |
3 | 62 | |
MED30 | - | - |
GRCh38 GRCh37 |
6 | 64 | |
SAMD12 | - | - |
GRCh38 GRCh37 |
18 | 77 |
There are 4 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) |
|
May 14, 2022 | RCV003119346.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024