Total 1 pathogenic variants reported for Monomelic amyotrophy
Single Nucleotide Variant (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_003061.3(SLIT1):c.2276T>A (p.Ile759Asn)
SNV
Germline
Chr10:97040009
Likely pathogenic
Monomelic amyotrophy
No Assertion Criteria Provided
1 Submitters
RCV003224774