Total 20 pathogenic variants reported for Chondrosarcoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	dbSNP ID	Variation/condition record
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)	SNV Germline	Chr8:118111043	Pathogenic	Multiple congenital exostosis Exostoses, multiple, type 1 Chondrosarcoma	Criteria Provided Multiple Submitters No Conflicts	rs_1817895168	3 SubmittersRCV001038425 RCV003152746 RCV003473617
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)	SNV Germline	Chr8:117818516	Pathogenic	Chondrosarcoma Multiple congenital exostosis	Criteria Provided Single Submitter	rs_1811865335	2 SubmittersRCV001199164 RCV001528142
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	SNV Germline	Chr8:118110174	Conflicting classifications of pathogenicity	Chondrosarcoma Multiple congenital exostosis Exostoses, multiple, type 1	Criteria Provided Conflicting Classifications	rs_372750330	3 SubmittersRCV001293878 RCV002543022 RCV004727087
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)	SNV Germline	Chr8:118110941	Conflicting classifications of pathogenicity	Ovarian cancer Chondrosarcoma	Criteria Provided Conflicting Classifications		2 SubmittersRCV003154681 RCV003466023
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)	SNV Germline	Chr8:117830318	Conflicting classifications of pathogenicity	Ovarian cancer Chondrosarcoma Multiple congenital exostosis	Criteria Provided Conflicting Classifications		3 SubmittersRCV003154696 RCV003466024 RCV003497975
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)	SNV Germline	Chr8:117837187	Conflicting classifications of pathogenicity	Chondrosarcoma Exostoses, multiple, type 1	Criteria Provided Conflicting Classifications		2 SubmittersRCV003467959 RCV004723322
NM_000127.3(EXT1):c.2055+1G>C	SNV Unknown	Chr8:117804721	Likely pathogenic	Chondrosarcoma	Criteria Provided Single Submitter		1 SubmittersRCV003460043