Total 368 pathogenic variants reported for Multiple congenital exostosis 
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252308 rs_119103287

3 SubmittersRCV000002601RCV001003502
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) SNV
Germline		 Chr8:117837148 Pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252310 rs_119103288

3 SubmittersRCV000002604RCV001003501RCV003311634
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252315 rs_119103290

5 SubmittersRCV000002606RCV000255752RCV001003500RCV002512681
NM_000127.3(EXT1):c.962+1G>C SNV
Germline		 Chr8:118110084 Pathogenic Exostoses, multiple, type 1
Multiple congenital exostosis		 Criteria Provided
Single Submitter
 rs_886039353

2 SubmittersRCV000002607RCV001239443
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) SNV
Germline		 Chr8:117822522 Conflicting classifications of pathogenicity not specified
Multiple congenital exostosis
Langer-Giedion syndrome
Condition: not provided
Exostoses, multiple, type 1		 Criteria Provided
Conflicting Classifications
 CA159098 rs_201504622

5 SubmittersRCV000120873RCV000315374RCV000395683RCV001355602RCV003315752
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		 Criteria Provided
Conflicting Classifications
 CA159101 rs_145720047

3 SubmittersRCV000120874RCV002515864RCV003905151
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) SNV
Germline		 Chr8:117799821 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236312 rs_786205593

3 SubmittersRCV000171418RCV001057521
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter) SNV
Germline		 Chr8:117807222 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588446 rs_886039357

2 SubmittersRCV000254878RCV001223213
NM_000127.3(EXT1):c.1056+1G>T SNV
Germline		 Chr8:117837107 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588449 rs_886039354

2 SubmittersRCV000255186RCV001859477
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) SNV
Germline		 Chr8:117837145 Pathogenic Condition: not provided
Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4854266 rs_119103287

6 SubmittersRCV000254839RCV000630812RCV001263553
NM_000127.3(EXT1):c.962+1G>T SNV
Germline		 Chr8:118110084 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588450 rs_886039353

2 SubmittersRCV000256094RCV001224730
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) SNV
Germline		 Chr8:118110244 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588451 rs_886039352

2 SubmittersRCV000255528RCV001859476
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter) SNV
Germline		 Chr8:118110512 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588453 rs_886039561

2 SubmittersRCV000255895RCV001859483
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) SNV
Germline		 Chr8:118110438 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications
 CA10604299 rs_886042484

2 SubmittersRCV000386242RCV001086497
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) SNV
Germline		 Chr8:117835542 Conflicting classifications of pathogenicity Multiple congenital exostosis
Condition: not provided
Exostoses, multiple, type 1
EXT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4854241 rs_61753260

5 SubmittersRCV000307037RCV000827733RCV003153565RCV003422357
NM_000127.3(EXT1):c.210A>G (p.Gln70=) SNV
Germline		 Chr8:118110837 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 CA10624654 rs_367543871

2 SubmittersRCV000376661
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly) SNV
Germline		 Chr8:118110899 Conflicting classifications of pathogenicity Hereditary Multiple Osteochondromatosis
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications
 CA4854410 rs_772811741

2 SubmittersRCV000268096RCV002058697
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) SNV
Germline		 Chr8:117830235 Conflicting classifications of pathogenicity not specified
Multiple congenital exostosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4854193 rs_773539946

3 SubmittersRCV000432157RCV001214391RCV002522378
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter) SNV
Germline		 Chr8:118110195 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16605945 rs_1057520608

2 SubmittersRCV000440581RCV000800945
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) SNV
Germline		 Chr8:118110235 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications
 CA16618590 rs_1064793786

2 SubmittersRCV000486275RCV003497852
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) SNV
Germline		 Chr8:118110797 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618592 rs_1064793753

3 SubmittersRCV000483829RCV003497851
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter) SNV
Germline		 Chr8:117804777 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371876991 rs_1131692020

2 SubmittersRCV000494661RCV001384344
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) SNV
Germline		 Chr8:117835538 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications
 CA371892714 rs_1131691337

2 SubmittersRCV000494520RCV001856960
NM_000127.3(EXT1):c.1418-2A>G SNV
Germline		 Chr8:117819796 Pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371885627 rs_1554578802

2 SubmittersRCV000518490RCV001003499
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) SNV
Germline		 Chr8:117837143 Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371893285 rs_1554580149

2 SubmittersRCV000520066RCV001206165
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly) SNV
Germline		 Chr8:117837143 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371893286 rs_1554580149

2 SubmittersRCV000520455RCV000799887
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) SNV
Germline		 Chr8:118110245 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371915018 rs_1554601492

2 SubmittersRCV000520277RCV001857953
NM_000127.3(EXT1):c.1056+2T>A SNV
Germline		 Chr8:117837106 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371893183 rs_1554580142

1 SubmittersRCV000536837
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp) SNV
Germline		 Chr8:117837172 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371893338 rs_1554580153

1 SubmittersRCV000531791
NM_000127.3(EXT1):c.1056+3A>C SNV
Germline		 Chr8:117837105 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA658657822 rs_1554580140

1 SubmittersRCV000551584
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) SNV
Germline		 Chr8:117799852 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371890190 rs_1363815113

4 SubmittersRCV000579207RCV000630806RCV003458465
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter) SNV
Germline		 Chr8:117807290 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371878224 rs_1554657437

2 SubmittersRCV000578934RCV000691886
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter) SNV
Germline		 Chr8:118110134 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371914771 rs_1554601474

2 SubmittersRCV000578854RCV001069596
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter) SNV
Germline		 Chr8:118110591 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371915806 rs_1554601534

2 SubmittersRCV000579269RCV001382617
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) SNV
Germline		 Chr8:117799805 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis
EXT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4853940 rs_757499157

3 SubmittersRCV000592027RCV003603058RCV003980078
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly) SNV
Germline		 Chr8:117837128 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371893255 rs_1554580147

1 SubmittersRCV000630808
NM_000127.3(EXT1):c.1417+2T>A SNV
Germline		 Chr8:117822463 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371887007 rs_1554578992

1 SubmittersRCV000630807
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter) SNV
Germline		 Chr8:117799849 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371890173 rs_1554656266

1 SubmittersRCV000630815
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly) SNV
Germline		 Chr8:118110209 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371914946 rs_1554601483

1 SubmittersRCV000630813
NM_000127.3(EXT1):c.963-2A>G SNV
Germline		 Chr8:117837203 Pathogenic Multiple congenital exostosis Criteria Provided
Multiple Submitters
No Conflicts
 CA371893411 rs_1554580162

2 SubmittersRCV000630809
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter) SNV
Germline		 Chr8:118110768 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 CA371916215 rs_1227875610

1 SubmittersRCV000630816
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) SNV
Germline		 Chr8:118110207 Pathogenic/Likely pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1563659325

2 SubmittersRCV000699208RCV003126909
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser) SNV
Germline		 Chr8:118110475 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1563659467

1 SubmittersRCV000685852
NM_000127.3(EXT1):c.1884-1G>A SNV
Germline		 Chr8:117804894 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1131691623

1 SubmittersRCV000690693
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter) SNV
Germline		 Chr8:117818491 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1563569983

1 SubmittersRCV000686425
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter) SNV
Germline		 Chr8:117835543 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_11546829

1 SubmittersRCV000692001
NM_000127.3(EXT1):c.1056+1G>A SNV
Germline		 Chr8:117837107 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_886039354

1 SubmittersRCV000707688
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter) SNV
Germline		 Chr8:117822566 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1563571318

1 SubmittersRCV000688370
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter) SNV
Germline		 Chr8:117804866 Pathogenic Multiple congenital exostosis Criteria Provided
Multiple Submitters
No Conflicts
 rs_1586989220

2 SubmittersRCV000803549
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter) SNV
Germline		 Chr8:117807283 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586990317

1 SubmittersRCV000820160
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter) SNV
Germline		 Chr8:117807355 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586990402

1 SubmittersRCV000816960
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) SNV
Germline		 Chr8:117830278 Pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1587001428

2 SubmittersRCV000805681RCV001662836
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg) SNV
Germline		 Chr8:117835545 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1587003655

1 SubmittersRCV000813609
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter) SNV
Germline		 Chr8:118110090 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586279297

1 SubmittersRCV000791680
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter) SNV
Germline		 Chr8:118110463 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586279621

1 SubmittersRCV000798252
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter) SNV
Germline		 Chr8:118110683 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586279835

1 SubmittersRCV000800416
NM_000127.3(EXT1):c.1884-1G>T SNV
Germline		 Chr8:117804894 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1131691623

1 SubmittersRCV000802380
NM_000127.3(EXT1):c.1633-2A>G SNV
Germline		 Chr8:117812963 Pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1233701691

2 SubmittersRCV000800157RCV001091705
NM_000127.3(EXT1):c.1417+1G>A SNV
Germline		 Chr8:117822464 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586997796

1 SubmittersRCV000795566
NM_000127.3(EXT1):c.962+1G>A SNV
Germline		 Chr8:118110084 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_886039353

1 SubmittersRCV000796470
NM_000127.3(EXT1):c.1057-1G>C SNV
Germline		 Chr8:117835552 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1587003661

1 SubmittersRCV000809081
NM_000127.3(EXT1):c.1537-2A>G SNV
Germline		 Chr8:117818532 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1554578710

1 SubmittersRCV000813901
NM_000127.3(EXT1):c.1057-2A>G SNV
Germline		 Chr8:117835553 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1587003662

1 SubmittersRCV000793605
NM_000127.3(EXT1):c.1743G>A (p.Val581=) SNV
Germline		 Chr8:117807357 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 rs_375284779

2 SubmittersRCV000877787
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) SNV
Germline		 Chr8:117807354 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1586990398

2 SubmittersRCV001008654RCV001226441
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter) SNV
Germline		 Chr8:117804751 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823212809

1 SubmittersRCV001054605
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter) SNV
Germline		 Chr8:117807282 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823253080

1 SubmittersRCV001045430
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter) SNV
Germline		 Chr8:117807303 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1718310043

1 SubmittersRCV001048915
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter) SNV
Germline		 Chr8:117807304 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823253698

1 SubmittersRCV001069092
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter) SNV
Germline		 Chr8:117807324 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823254238

1 SubmittersRCV001059425
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter) SNV
Germline		 Chr8:117819791 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811893325

1 SubmittersRCV001070256
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter) SNV
Germline		 Chr8:117830295 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1812077342

1 SubmittersRCV001071268
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter) SNV
Germline		 Chr8:117830322 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_561006425

1 SubmittersRCV001050372
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter) SNV
Germline		 Chr8:117835482 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1812173838

1 SubmittersRCV001051617
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter) SNV
Germline		 Chr8:117835500 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1812174128

1 SubmittersRCV001046704
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile) SNV
Germline		 Chr8:117837127 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1812200035

1 SubmittersRCV001058445
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg) SNV
Germline		 Chr8:117837154 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1812200901

1 SubmittersRCV001060732
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg) SNV
Germline		 Chr8:118110113 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817867776

1 SubmittersRCV001039947
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg) SNV
Germline		 Chr8:118110245 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1554601492

1 SubmittersRCV001066050
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter) SNV
Germline		 Chr8:118110696 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_982804750

1 SubmittersRCV001057241
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter) SNV
Germline		 Chr8:118110839 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817887343

1 SubmittersRCV001055562
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 SubmittersRCV001038425RCV003152746RCV003473617
NM_000127.3(EXT1):c.1722+1G>T SNV
Germline		 Chr8:117812871 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823350857

1 SubmittersRCV001070102
NM_000127.3(EXT1):c.1417+1G>T SNV
Germline		 Chr8:117822464 Pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1586997796

2 SubmittersRCV001048523RCV002509597
NM_000127.3(EXT1):c.1883+2T>C SNV
Germline		 Chr8:117807215 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823251224

1 SubmittersRCV001057361
NM_000127.3(EXT1):c.1883+1G>A SNV
Germline		 Chr8:117807216 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823251265

1 SubmittersRCV001071945
NM_000127.3(EXT1):c.1722+2T>G SNV
Germline		 Chr8:117812870 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823350795

1 SubmittersRCV001039904
NM_000127.3(EXT1):c.1285-1G>C SNV
Germline		 Chr8:117822598 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811943967

1 SubmittersRCV001090008
NM_000127.3(EXT1):c.1633-1G>T SNV
Germline		 Chr8:117812962 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1823354043

2 SubmittersRCV001091704RCV001230148
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) SNV
Germline		 Chr8:118110977 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1817893036

3 SubmittersRCV001092146RCV001253631RCV002290596
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) SNV
Germline		 Chr8:117807319 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 rs_374887549

2 SubmittersRCV001165074
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) SNV
Germline		 Chr8:117807351 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 rs_575895733

2 SubmittersRCV001158361
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) SNV
Germline		 Chr8:117812920 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 rs_202051061

2 SubmittersRCV001158362
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) SNV
Germline		 Chr8:117830248 Conflicting classifications of pathogenicity Multiple congenital exostosis Criteria Provided
Conflicting Classifications
 rs_899395870

2 SubmittersRCV001161573
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 SubmittersRCV001199164RCV001528142
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter) SNV
Germline		 Chr8:117804724 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823212414

1 SubmittersRCV001217392
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter) SNV
Germline		 Chr8:117804748 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823212774

1 SubmittersRCV001221028
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter) SNV
Germline		 Chr8:117812898 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1586993117

1 SubmittersRCV001225197
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter) SNV
Germline		 Chr8:117822478 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811940837

1 SubmittersRCV001224323
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter) SNV
Germline		 Chr8:117822481 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811940928

1 SubmittersRCV001217177
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter) SNV
Germline		 Chr8:117822547 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811942574

1 SubmittersRCV001222439
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter) SNV
Germline		 Chr8:117822566 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1563571318

1 SubmittersRCV001216058
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter) SNV
Germline		 Chr8:118110932 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817891356

1 SubmittersRCV001223750
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter) SNV
Germline		 Chr8:118110968 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817892723

1 SubmittersRCV001218914
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter) SNV
Germline		 Chr8:118110981 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_764093488

1 SubmittersRCV001218625
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter) SNV
Germline		 Chr8:118110086 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817866954

1 SubmittersRCV001204040
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter) SNV
Germline		 Chr8:118110368 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817873582

1 SubmittersRCV001205362
NM_000127.3(EXT1):c.593G>T (p.Gly198Val) SNV
Germline		 Chr8:118110454 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817876363

1 SubmittersRCV001202505
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter) SNV
Germline		 Chr8:118110761 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817884837

1 SubmittersRCV001204281
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) SNV
Germline		 Chr8:117807252 Pathogenic Multiple congenital exostosis
EXT1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1563873580

2 SubmittersRCV001226097RCV003393898
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter) SNV
Germline		 Chr8:117807281 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823253013

1 SubmittersRCV001227957
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter) SNV
Germline		 Chr8:117819678 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1383256196

1 SubmittersRCV001225753
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter) SNV
Germline		 Chr8:117819735 Pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1811890821

2 SubmittersRCV001237335RCV003313999
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter) SNV
Germline		 Chr8:117822591 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811943921

1 SubmittersRCV001235920
NM_000127.3(EXT1):c.1056G>T (p.Gln352His) SNV
Germline		 Chr8:117837108 Pathogenic/Likely pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1812199676

2 SubmittersRCV001230822RCV003886492
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter) SNV
Germline		 Chr8:118110135 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817868370

1 SubmittersRCV001233740
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter) SNV
Germline		 Chr8:118110179 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_759708614

1 SubmittersRCV001225381
NM_000127.3(EXT1):c.1883+1G>T SNV
Germline		 Chr8:117807216 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823251265

1 SubmittersRCV001235525
NM_000127.3(EXT1):c.1723-2A>T SNV
Germline		 Chr8:117807379 Pathogenic/Likely pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1823255835

2 SubmittersRCV001231309RCV002290648
NM_000127.3(EXT1):c.1633-1G>A SNV
Germline		 Chr8:117812962 Pathogenic Multiple congenital exostosis Criteria Provided
Multiple Submitters
No Conflicts
 rs_1823354043

2 SubmittersRCV001248809
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) SNV
Germline/somatic		 Chr8:117837146 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_119103290

3 SubmittersRCV001270018RCV002537726RCV004527418
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser) SNV
Germline		 Chr8:118110439 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817876107

1 SubmittersRCV001320381
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro) SNV
Germline		 Chr8:118110589 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817879832

1 SubmittersRCV001348233
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser) SNV
Germline		 Chr8:117837149 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129791225

1 SubmittersRCV001377588
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter) SNV
Germline		 Chr8:117807218 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129700894

1 SubmittersRCV001381043
NM_000127.3(EXT1):c.1723-2A>C SNV
Germline		 Chr8:117807379 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1823255835

1 SubmittersRCV001381392
NM_000127.3(EXT1):c.1285-1G>T SNV
Germline		 Chr8:117822598 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811943967

1 SubmittersRCV001381905
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter) SNV
Germline		 Chr8:117835451 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129786157

1 SubmittersRCV001386492
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr) SNV
Germline		 Chr8:117835544 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129786671

1 SubmittersRCV001384285
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) SNV
Germline		 Chr8:117837137 Pathogenic/Likely pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_978347552

2 SubmittersRCV001384286RCV002290702
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter) SNV
Germline		 Chr8:118110654 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130043699

1 SubmittersRCV001386695
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) SNV
Germline		 Chr8:118110844 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130044984

1 SubmittersRCV001389768
NM_000127.3(EXT1):c.1536+1G>A SNV
Germline		 Chr8:117819675 Pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1811889441

2 SubmittersRCV001576343RCV003497924
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) SNV
Germline		 Chr8:117799820 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications
 rs_2129679879

2 SubmittersRCV001767222RCV001861094
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter) SNV
Germline		 Chr8:117819791 Pathogenic/Likely pathogenic Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1811893325

2 SubmittersRCV001781061RCV003497940
NM_000127.3(EXT1):c.936T>A (p.Cys312Ter) SNV
Germline		 Chr8:118110111 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130041053

1 SubmittersRCV001823666
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) SNV
Germline		 Chr8:117812960 Conflicting classifications of pathogenicity Multiple congenital exostosis
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1368926188

2 SubmittersRCV002024122RCV003154235
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter) SNV
Germline		 Chr8:117807264 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129701239

1 SubmittersRCV001906262
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg) SNV
Germline		 Chr8:118110256 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_377162411

1 SubmittersRCV001953877
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter) SNV
Germline		 Chr8:117812935 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_757115396

1 SubmittersRCV001958909
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) SNV
Germline		 Chr8:118110595 Conflicting classifications of pathogenicity Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1385688129

2 SubmittersRCV001971051RCV003442982
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter) SNV
Germline		 Chr8:118110686 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130043930

1 SubmittersRCV002007595
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) SNV
Germline		 Chr8:118110654 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130043699

1 SubmittersRCV001962913
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter) SNV
Germline		 Chr8:117804875 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129694149

1 SubmittersRCV001939687
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) SNV
Germline		 Chr8:117819690 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129740737

1 SubmittersRCV001942227
NM_000127.3(EXT1):c.803G>T (p.Gly268Val) SNV
Germline		 Chr8:118110244 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_886039352

1 SubmittersRCV002037966
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter) SNV
Germline		 Chr8:117818443 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129736434

1 SubmittersRCV001960516
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) SNV
Germline		 Chr8:118110410 Pathogenic Multiple congenital exostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2130042549

2 SubmittersRCV001970198RCV003236913
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) SNV
Germline		 Chr8:117807271 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129701251

1 SubmittersRCV001878574
NM_000127.3(EXT1):c.1057-2A>T SNV
Germline		 Chr8:117835553 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1587003662

1 SubmittersRCV001949329
NM_000127.3(EXT1):c.1536+1G>C SNV
Germline		 Chr8:117819675 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1811889441

1 SubmittersRCV001947090
NM_000127.3(EXT1):c.1418-1G>A SNV
Germline		 Chr8:117819795 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129741436

1 SubmittersRCV001972606
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter) SNV
Germline		 Chr8:117835446 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129786122

1 SubmittersRCV001972607
NM_000127.3(EXT1):c.1537-1G>C SNV
Germline		 Chr8:117818531 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129736985

1 SubmittersRCV001959121
NM_000127.3(EXT1):c.1164+1G>A SNV
Germline		 Chr8:117835443 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129786098

1 SubmittersRCV001958714
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter) SNV
Germline		 Chr8:117835486 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2129786370

1 SubmittersRCV001958715
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) SNV
Germline		 Chr8:118110447 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_1817876148

1 SubmittersRCV001949615
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) SNV
Germline		 Chr8:118110434 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter
 rs_2130042683

1 SubmittersRCV001876462
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) SNV
Germline		 Chr8:117799891 Conflicting classifications of pathogenicity Multiple congenital exostosis
EXT1-related disorder
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_138855109

3 SubmittersRCV002187165RCV003941312RCV003154236
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) SNV
Germline		 Chr8:118110923 Conflicting classifications of pathogenicity Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Conflicting Classifications
 rs_368382074

2 SubmittersRCV002104598RCV003154238
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu) SNV
Germline		 Chr8:118110138 Conflicting classifications of pathogenicity Multiple congenital exostosis
EXT1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1176457130

2 SubmittersRCV002204073RCV003896059
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro) SNV
Germline		 Chr8:117812909 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003062173
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter) SNV
Germline		 Chr8:117818517 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003062174
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter) SNV
Germline		 Chr8:117830243 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003062176
NM_000127.3(EXT1):c.1164+1G>T SNV
Germline		 Chr8:117835443 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003062178
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn) SNV
Germline		 Chr8:118110388 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003062180
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter) SNV
Germline		 Chr8:118110495 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003037304
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter) SNV
Germline		 Chr8:118110674 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003037305
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter) SNV
Germline		 Chr8:118110662 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003079090
NM_000127.3(EXT1):c.850T>C (p.Tyr284His) SNV
Germline		 Chr8:118110197 Conflicting classifications of pathogenicity Multiple congenital exostosis
Ovarian cancer		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002596210RCV003154274
NM_000127.3(EXT1):c.1880A>G (p.His627Arg) SNV
Germline		 Chr8:117807220 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003112744
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter) SNV
Germline		 Chr8:117835517 Pathogenic/Likely pathogenic Multiple congenital exostosis
Exostoses, multiple, type 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003112199RCV003157981
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp) SNV
Germline		 Chr8:118110209 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV002856119
NM_000127.3(EXT1):c.1165-2A>C SNV
Germline		 Chr8:117830351 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV002852182
NM_000127.3(EXT1):c.1165-1G>C SNV
Germline		 Chr8:117830350 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV002882013
NM_000127.3(EXT1):c.1632+2T>G SNV
Germline		 Chr8:117818433 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV002922578
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter) SNV
Germline		 Chr8:117822499 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV002923712
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter) SNV
Germline		 Chr8:117822475 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003008046
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter) SNV
Germline		 Chr8:118110791 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003042290
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter) SNV
Germline		 Chr8:117807265 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003030000
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter) SNV
Germline		 Chr8:117818481 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003051999
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter) SNV
Germline		 Chr8:118110537 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003050438
NM_000127.3(EXT1):c.1A>C (p.Met1Leu) SNV
Germline		 Chr8:118111046 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003050322
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val) SNV
Germline		 Chr8:117830318 Conflicting classifications of pathogenicity Ovarian cancer
Multiple congenital exostosis
Chondrosarcoma		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003154696RCV003497975RCV003466024
NM_000127.3(EXT1):c.1057-3C>G SNV
Germline		 Chr8:117835554 Conflicting classifications of pathogenicity Condition: not provided
Multiple congenital exostosis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003227367RCV003497982
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys) SNV
Germline		 Chr8:118110439 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003389441
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter) SNV
Germline		 Chr8:118110690 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499959
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter) SNV
Germline		 Chr8:118110716 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499960
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter) SNV
Germline		 Chr8:117807293 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499950
NM_000127.3(EXT1):c.1722+1G>A SNV
Germline		 Chr8:117812871 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499953
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val) SNV
Germline		 Chr8:117837148 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499956
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter) SNV
Germline		 Chr8:118110217 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499957
NM_000127.3(EXT1):c.1165-2A>G SNV
Germline		 Chr8:117830351 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003497336
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser) SNV
Germline		 Chr8:117837126 Likely pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003499497
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter) SNV
Germline		 Chr8:118110308 Pathogenic Multiple congenital exostosis Criteria Provided
Single Submitter

1 SubmittersRCV003603229