ClinVar Genomic variation as it relates to human health
NM_000451.4(SHOX):c.181del (p.Glu61fs)
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 | |||
SHOX |
|
Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
148 | 343 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 2000 | RCV000010553.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 19, 2022
NCBI staff provided HGVS expressions for allelic variant 312865.0006 from the sequence reported in Figure 1 of the paper by Grigelioniene et al., 2000 (PubMed 11030412).