ClinVar Genomic variation as it relates to human health
NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528]
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
MCOLN1 | - | - |
GRCh38 GRCh37 |
834 | 872 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 2004 | RCV000005445.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 29, 2022
NCBI staff provided an HGVS expression for allelic variant 605248.0008 by representing the sequence of the insert NM_173713.2:c.99_192 in the coordinates of NC_012920.1.