ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_42958672)_(43054732_?)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 | |||
HGSNAT | - | - |
GRCh38 GRCh37 |
1067 | 1258 | |
LOC121740716 | - | - | - | GRCh38 | - | 32 |
LOC130000316 | - | - | - | GRCh38 | - | 152 |
LOC130000317 | - | - | - | GRCh38 | - | 32 |
LOC130000318 | - | - | - | GRCh38 | - | 32 |
LOC130000319 | - | - | - | GRCh38 | - | 32 |
LOC130000320 | - | - | - | GRCh38 | - | 31 |
LOC130000321 | - | - | - | GRCh38 | - | 31 |
POMK | - | - |
GRCh38 GRCh37 |
255 | 328 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 26, 2019 | RCV000652849.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024