ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_40688291)_(40729741_?)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 | |||
COASY | - | - |
GRCh38 GRCh37 |
301 | 322 | |
HSD17B1 | - | - |
GRCh38 GRCh37 |
6 | 48 | |
MLX | - | - |
GRCh38 GRCh37 |
16 | 38 | |
NAGLU | - | - |
GRCh38 GRCh37 |
1051 | 1270 | |
PSMC3IP | - | - |
GRCh38 GRCh37 |
30 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 17, 2022 | RCV003109258.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024