Total 29 pathogenic variants reported for Chondrosarcoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu) SNV
Germline		 Chr8:117837145 Pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1
Exostoses, multiple, type 1
Chondrosarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252308 rs_119103287

4 SubmittersRCV000002601RCV001003502RCV005031383
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) SNV
Germline		 Chr8:117837146 Pathogenic/Likely pathogenic Multiple congenital exostosis
Condition: not provided
Exostoses, multiple, type 1
Inborn genetic diseases
EXT1-related disorder
Exostoses, multiple, type 1
Chondrosarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252315 rs_119103290

8 SubmittersRCV000002606RCV000255752RCV001003500RCV002512681RCV004739279RCV005031384
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) SNV
Germline		 Chr8:118110925 Conflicting classifications of pathogenicity not specified
Multiple congenital exostosis
Condition: not provided
Chondrosarcoma
Exostoses, multiple, type 1		 Criteria Provided
Conflicting Classifications
 CA159089 rs_199862937

4 SubmittersRCV000120870RCV001205167RCV001356540RCV005031621
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile) SNV
Germline		 Chr8:117835473 Conflicting classifications of pathogenicity not specified
Multiple congenital exostosis
Chondrosarcoma		 Criteria Provided
Conflicting Classifications
 CA159095 rs_371233961

3 SubmittersRCV000120872RCV001304404RCV003467079
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg) SNV
Germline		 Chr8:117819782 Conflicting classifications of pathogenicity not specified
Multiple congenital exostosis
EXT1-related disorder
Chondrosarcoma
Exostoses, multiple, type 1
Exostoses, multiple, type 1		 Criteria Provided
Conflicting Classifications
 CA159101 rs_145720047

5 SubmittersRCV000120874RCV002515864RCV003905151RCV005031622RCV005055071
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
 CA371916804 rs_1817895168

3 SubmittersRCV001038425RCV003152746RCV003473617
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter) SNV
Germline		 Chr8:117818516 Pathogenic Chondrosarcoma
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371883456 rs_1811865335

3 SubmittersRCV001199164RCV001528142
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
 CA184682407 rs_372750330

3 SubmittersRCV001293878RCV002543022RCV004727087
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) SNV
Germline		 Chr8:118110923 Conflicting classifications of pathogenicity Multiple congenital exostosis
Exostoses, multiple, type 1
Exostoses, multiple, type 1
Chondrosarcoma
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4854415 rs_368382074

4 SubmittersRCV002104598RCV003154238RCV005032173RCV005343360
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser) SNV
Germline		 Chr8:117819726 Conflicting classifications of pathogenicity Multiple congenital exostosis
Chondrosarcoma		 Criteria Provided
Conflicting Classifications
 CA4854126 rs_139784916

2 SubmittersRCV003051286RCV003465941
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala) SNV
Germline		 Chr8:118110412 Conflicting classifications of pathogenicity Multiple congenital exostosis
Chondrosarcoma		 Criteria Provided
Conflicting Classifications
 CA4854334 rs_146407656

2 SubmittersRCV003084919RCV003465961
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp) SNV
Germline		 Chr8:118110941 Conflicting classifications of pathogenicity Chondrosarcoma
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA4854422 rs_770352704

2 SubmittersRCV003466023RCV003154681
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
 CA371890568 rs_1275929525

3 SubmittersRCV003154696RCV003466024RCV003497975
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
 CA371893374 rs_2488135392

2 SubmittersRCV003467959RCV004723322
NM_000127.3(EXT1):c.2055+1G>C SNV
Unknown		 Chr8:117804721 Likely pathogenic Chondrosarcoma Criteria Provided
Single Submitter
 CA371876736 rs_2129693279

1 SubmittersRCV003460043
NM_000127.3(EXT1):c.1031C>T (p.Ser344Phe) SNV
Germline		 Chr8:117837133 Likely pathogenic Chondrosarcoma
Exostoses, multiple, type 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005233157