ClinVar Genomic variation as it relates to human health
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
HSD17B3 | - | - |
GRCh38 GRCh37 |
9 | 346 | |
SLC35D2-HSD17B3 | - | - | - | GRCh38 | - | 336 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 9, 2023 | RCV002638342.2 | |
Pathogenic (1) |
|
Nov 20, 2023 | RCV003459769.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024