ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_178699902)_(179263603_?)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 | |||
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1751 | 1806 | |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 83 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 60 |
HNRNPH1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 81 | |
LTC4S | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 53 | |
MAML1 | - | - |
GRCh38 GRCh38 GRCh37 |
77 | 121 | |
MGAT4B | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 85 | |
RUFY1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 90 | |
SQSTM1 | - | - |
GRCh38 GRCh38 GRCh37 |
671 | 793 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 20, 2020 | RCV001346318.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023