ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_165946660)_(167168266_?)del
Germline
Classification
(5)
Pathogenic
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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2206 | 4567 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2554 | 2629 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
36 | 100 | |
GALNT3 | - | - |
GRCh38 GRCh37 |
431 | 494 | |
SCN3A | - | - |
GRCh38 GRCh37 |
1661 | 1715 | |
SCN9A | - | - |
GRCh38 GRCh37 |
446 | 2659 | |
TTC21B | - | - |
GRCh38 GRCh37 |
1109 | 1312 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001381177.4 | |
no classifications from unflagged records (1) |
|
- | RCV001390921.4 | |
no classifications from unflagged records (1) |
|
- | RCV001362895.4 | |
no classifications from unflagged records (1) |
|
- | RCV001387893.4 | |
Pathogenic (1) |
|
Jul 25, 2022 | RCV001871956.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024