Total 2 pathogenic variants reported for Winchester syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004995.4(MMP14):c.50C>G (p.Thr17Arg) SNV
Germline		 Chr14:22836867 Pathogenic Winchester syndrome No Assertion Criteria Provided
 CA144802 rs_587777039

1 SubmittersRCV000055657
NM_004995.4(MMP14):c.332G>A (p.Arg111His) SNV
Germline		 Chr14:22841987 Pathogenic Winchester syndrome No Assertion Criteria Provided

1 SubmittersRCV003988802