ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_28824392)_(28904205_?)del
Germline
Classification
(1)
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 | |||
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
357 | 513 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
771 | 970 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
46 | 204 | |
LOC112340393 | - | - | - | GRCh38 | - | 58 |
LOC129390780 | - | - | - | GRCh38 | - | 58 |
LOC130058735 | - | - | - | GRCh38 | - | 76 |
LOC130058736 | - | - | - | GRCh38 | - | 58 |
LOC130058737 | - | - | - | GRCh38 | - | 58 |
LOC130058738 | - | - | - | GRCh38 | - | 58 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 5, 2018 | RCV000707887.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024