Full data view for gene EXT2

A Multiple Osteochondroma Mutation Database
Information The variants shown are described using the NM_207122.1 transcript reference sequence.

574 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 9i_14_ c.(1495+1_1495-1)_*1143{0} r.? p.0? Parent #1 - pathogenic g.(44219569_44228342)_(44266980_?)del g.(44198019_44206792)_(44245430_?)del c.(1495+1_1495-1)_(*1_?)del - EXT2_000447 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ - - EXT2 FamEXT2_25_b_pt1 PubMed: Fusco 2019 family, 3 affected F - Italy - - - - - 3 Johan den Dunnen
+/. 9i_14_ c.(1495+1_1495-1)_*1143{0} r.? p.0? Parent #1 - pathogenic g.(44219569_44228342)_(44266980_?)del g.(44198019_44206792)_(44245430_?)del c.(1495+1_1495-1)_(*1_?)del - EXT2_000447 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ - - EXT2 FamEXT2_25_b_pt2 PubMed: Fusco 2019 - F - Italy - - - - - 1 Johan den Dunnen
+/. 9i_14_ c.(1495+1_1495-1)_*1143{0} r.? p.0? Parent #1 - pathogenic g.(44219569_44228342)_(44266980_?)del g.(44198019_44206792)_(44245430_?)del c.(1495+1_1495-1)_(*1_?)del - EXT2_000447 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ - - EXT2 FamEXT2_25_b_pt3 PubMed: Fusco 2019 - F - Italy - - - - - 1 Johan den Dunnen
-/- 1 c.-484T>C r.(=) p.(=) Unknown - benign g.44116949T>C g.44095399T>C c.-331T>C - EXT2_000023 SNP rs10458911 T/C - - - Unknown - 346 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
+?/+? _1_14_ c.-334_*1143{0} r.spl? p.(?) Unknown - likely pathogenic g.(?_44117099)_(44266980_?)del g.(?_44095549)_(44245430_?)del - - EXT2_000010 - - - - Germline - - - - - DNA SEQ Blood - MO - {PMID12239711:Hall, 2002} - - - - - - - - - 1 Ivy Jennes
+?/+? _1_14_ c.-334_*1143{0} r.spl? p.(?) Unknown - likely pathogenic g.(?_44117099)_(44266980_?)del g.(?_44095549)_(44245430_?)del - - EXT2_000010 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Germany - - - - - 1 Ivy Jennes
+?/+? _1_14_ c.-334_*1143{0} r.spl? p.(?) Unknown - likely pathogenic g.(?_44117099)_(44266980_?)del g.(?_44095549)_(44245430_?)del - - EXT2_000010 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - - - - - - - 1 Ivy Jennes
+?/+? _1_14_ c.-334_*1143{0} r.spl? p.(?) Unknown - likely pathogenic g.(?_44117099)_(44266980_?)del g.(?_44095549)_(44245430_?)del - - EXT2_000010 - - - - Unknown - - - - - DNA SEQ Blood - MO - Bakker, not yet published - - - - - - - - - 1 Bert Bakker
+?/+? _1_14_ c.-334_*1143{0} r.spl? p.(?) Unknown - likely pathogenic g.(?_44117099)_(44266980_?)del g.(?_44095549)_(44245430_?)del - - EXT2_000010 - - - - Unknown - - - - - DNA SEQ - - MO - Jennes, not yet published - - - Belgium - - - - - 1 Ivy Jennes
-/- 1 c.-311G>A r.(=) p.(=) Unknown - benign g.44117122G>A g.44095572G>A c.-464G>A - EXT2_000022 SNP rs3923808 G/A - - - Unknown - 538 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/- 1 c.-214C>G r.(=) p.(=) Unknown - benign g.44117219C>G g.44095669C>G c.-61C>G - EXT2_000021 SNP rs12800404 C/G - - - Unknown - 115 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/- 1i c.-31+7G>T r.(=) p.(=) Unknown - benign g.44117409G>T g.44095859G>T c.-184+7G>T - EXT2_000019 SNP rs58861092 G/T - - - Unknown - 38 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/. - c.-31+7G>T r.(=) p.(=) Unknown - benign g.44117409G>T g.44095859G>T EXT2(NM_001178083.1):c.-31+7G>T (p.(=)) - EXT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.-31+22G>A r.(=) p.(=) Unknown - benign g.44117424G>A g.44095874G>A c.-184+22G>A - EXT2_000015 SNP rs12365753 G/A - - - Unknown - 462 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/- 1i c.-31+42A>G r.(=) p.(=) Unknown - benign g.44117444A>G g.44095894A>G c.-184+42A>G - EXT2_000016 SNP rs12362775 A/G - - - Unknown - 346 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/- 1i c.-31+54G>T r.(=) p.(=) Unknown - benign g.44117456G>T g.44095906G>T c.-30-3884G>T - EXT2_000014 - - - - Unknown - 154 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
?/. - c.-31+403G>A r.(=) p.(=) Unknown - VUS g.44117805G>A g.44096255G>A EXT2(NM_000401.3):c.3G>A (p.M1?) - EXT2_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.-31+474G>A r.(=) p.(=) Unknown - benign g.44117876G>A g.44096326G>A c.-87+5G>A - EXT2_000017 - - - - Unknown - 38 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/. - c.-31+474G>A r.(=) p.(=) Unknown - benign g.44117876G>A g.44096326G>A EXT2(NM_000401.3):c.69+5G>A (p.?) - EXT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-31+474G>A r.(=) p.(=) Unknown - likely benign g.44117876G>A g.44096326G>A EXT2(NM_000401.3):c.69+5G>A (p.?) - EXT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.-31+496T>G r.(=) p.(=) Unknown - benign g.44117898T>G g.44096348T>G c.-87+27T>G - EXT2_000018 SNP rs11037860 T/G - - - Unknown - 385 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
+?/+? 1i_2 c.-30-10_441del r.spl? p.? Unknown - likely pathogenic g.44129223_44129703del g.44107673_44108153del - - EXT2_000013 - - - - Unknown - - - - - DNA SEQ - - MO - {PMID15221792:White, 2004} - - - - - - - - - 1 Ivy Jennes
+?/+? 1i_2i c.(-31+1_-30-1)_(536+1_537-1)del r.spl? p.? Unknown - likely pathogenic g.44129232_44129799del - - - EXT2_000005 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ Blood - MO - {PMID18165274:Jennes, 2008} - - - United States - - - - - 1 Ivy Jennes
+?/+? 1i_8i c.(-31+1_-30-1)_(1305+1_1306-1)del r.spl? p.? Unknown - likely pathogenic g.44129232_44193293del - - - EXT2_000006 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - MO - {PMID18373409: Leube, 2008} - - - - - - - - - 1 Ivy Jennes
?/? 2 c.-28G>A r.(=) p.(=) Unknown - VUS g.44129235G>A g.44107685G>A c.1-28G>A - EXT2_000024 Regulatory? - - - Unknown - - - - - DNA SEQ Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+/. 9i_14_ c.(1495+1_1495-1)_*1143{0} r.? p.0? Unknown - pathogenic g.(44219569_44228342)_(44266980_?)del g.(44198019_44206792)_(44245430_?)del c.(1495+1_1495-1)_(*1_?)del - EXT2_000447 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_25_a_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 30y - - - 1 Carmela Fusco
+?/+? 1_10i c.-334_(1662+1_1663-1){0} r.0? p.0? Unknown - likely pathogenic g.(?_44114092)_(44228510_44253902)del g.(?_44092542)_(44206960_44232352)del c.(-3341)_(1662+1)del - EXT2_000004 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United States - - - - - 1 Ivy Jennes
-/- _1_14_ c.? r.(?) p.(?) Unknown - benign g.44117100_44266981del g.44095550_44245431del c.-833C>T - EXT2_000010 - - - - Unknown - 38 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.44129270C>T g.44107720C>T EXT2(NM_001178083.1):c.8C>T (p.A3V) - EXT2_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.11C>T r.(?) p.(Ser4Leu) Both (homozygous) - likely pathogenic g.44129273C>T g.44107723C>T NM_000401.3:c.110C>T; p.Ser37Leu - EXT2_000434 - PubMed: Nair 2018 - rs527624522 Germline ? - - - - DNA SEQ-NG-I - whole exome sequencing EXT2 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
?/. - c.11C>T r.(?) p.(Ser4Leu) Unknown - VUS g.44129273C>T - EXT2(NM_207122.1):c.11C>T (p.(Ser4Leu)) - EXT2_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.28C>A r.(=) p.(=) Unknown - benign g.44129290C>A g.44107740C>A (Protein: R10R, CGG>AGG) - EXT2_000025 SNP rs4755228 C/A; Synonymous substitution. Codon CGG (freq: 0.207) changed to AGG (freq: 0.207), This variation does not alter the protein sequence. - - - Unknown - 0,03 - - - DNA SEQ - - MO - {PMID9326317:Philippe, 1997} - - - - - - - - - 1 Ivy Jennes
-/. - c.28C>A r.(=) p.(=) Unknown - benign g.44129290C>A - - - EXT2_000025 - PubMed: Chen 2020 - - Germline - - - - - DNA SEQ - - EXT family PubMed: Chen 2020 2-generation family, 4 affected (4M) M - China Han Chinese - - - - 4 Johan den Dunnen
-?/. - c.28C>A r.(=) p.(=) Paternal (confirmed) - likely benign g.44129290C>A - - - EXT2_000025 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MO FamPatI1/II1 PubMed: Guo 2021 2-generation family, affected father/daughter F;M no China - - - - - 2 Johan den Dunnen
+?/+? 2 c.63del r.(?) p.(Lys21Asnfs*38) Unknown - likely pathogenic g.44129325del g.44107775del 63delG - EXT2_000026 - - - - Germline - - - - - DNA SEQ - - MO - {PMID18373409: Leube, 2008} - - - - - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ Blood - MO - {PMID9463333:Wuyts, 1998} 4 patients, Same family as in Mollica, 1984: Some patients also have brachydactyly & anetoderma. - - Italy white - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ - - MO - {PMID11668521:Gigante, 2001} 2 generations, 1 patient - - Italy white - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA DHPLC Blood - MO - {PMID16088908:Pedrini, 2005} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC - - MO - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) white - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United Kingdom (Great Britain) - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United States - - - - - 1 Ivy Jennes
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Unknown - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.67C>T r.(?) p.(Arg23*) Unknown - likely pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ Blood - MO - Pedrini, not yet published - F - Italy - - - - - 1 Elena Pedrini
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_a_pt1 PubMed: Fusco 2019 family, 3 affected F - Italy white 32y - - - 3 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_a_pt2 PubMed: Fusco 2019 - F - Italy white 37y - - - 1 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_a_pt3 PubMed: Fusco 2019 - M - Italy white 13y - - - 1 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_c_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 45y - - - 1 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_d_pt1 PubMed: Fusco 2019 family, 2 affected M - Italy white 9y - - - 2 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - - - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_d_pt2 PubMed: Fusco 2019 - F - Italy white 13y - - - 1 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_e_pt1 PubMed: Fusco 2019 family, 1 affected M - Italy white 7y - - - 1 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_f_pt1 PubMed: Fusco 2019 family, 2 affected M - Italy white 74y - - - 2 Carmela Fusco
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic g.44129329C>T g.44107779C>T - - EXT2_000027 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_01_f_pt2 PubMed: Fusco 2019 - M - Italy white 36y - - - 1 Carmela Fusco
+/. - c.67C>T r.(?) p.(Arg23*) Paternal (confirmed) - pathogenic (dominant) g.44129329C>T - - - EXT2_000027 - PubMed: Ruan 2018 - - Germline yes - - - - DNA SEQ - - EXT FamJX-JJ001 PubMed: Ruan 2018 3-generation family, 5 affected (F, 4M) F;M - China - - - - - 5 Johan den Dunnen
+/. - c.67C>T r.(?) p.(Arg23*) Unknown - pathogenic g.44129329C>T - EXT2(NM_207122.1):c.67C>T (p.(Arg23Ter)) - EXT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.78dup r.(?) p.(Ile27Tyrfs*29) Unknown - likely pathogenic g.44129340dup g.44107790dup 77- or 78insT - EXT2_000036 - - - - Germline - - - - - DNA ? Blood, Mouth swabs - MO - {PMID9326317:Philippe, 1997} 3 generations, 4 patients - - United Kingdom (Great Britain) white - - - - 1 Ivy Jennes
+?/+? 2 c.81del r.(?) p.(Thr28Profs*31) Unknown - likely pathogenic g.44129343del g.44107793del c.81delC - EXT2_000236 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+/. 2 c.81del r.(?) p.(Thr28ProfsTer31) Unknown - pathogenic g.44129343del g.44107793del - - EXT2_000236 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_02 PubMed: Fusco 2019 family, 1 affected - - Italy white - - - - 3 Carmela Fusco
+?/+? 2 c.112_113del r.(?) p.(Ile38Cysfs*17) Unknown - likely pathogenic g.44129374_44129375del g.44107824_44107825del 112delAT - EXT2_000037 - - - - Germline - - - - - DNA SEQ - - MO - {PMID14654969:Vujic, 2004} 7 generations, 170 relatives, 38 patients2 with chondrosarcoma, 8 isolated exostosis, but without the c.112_113del - - - - - - - - 1 Ivy Jennes
-/. - c.124A>G r.(?) p.(Met42Val) Unknown - benign g.44129386A>G g.44107836A>G EXT2(NM_000401.3):c.223A>G (p.M75V) - EXT2_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.124del r.(?) p.(Met42Cysfs*17) Unknown - likely pathogenic g.44129386del g.44107836del c.124delA - EXT2_000237 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Tunisia - - - - - 1 Elena Pedrini
+/. - c.124del r.(?) p.(Met42CysfsTer17) Unknown - pathogenic g.44129386del - - - EXT2_000237 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.151G>T r.(?) p.(Glu51*) Unknown - likely pathogenic g.44129413G>T g.44107863G>T - - EXT2_000038 - - - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 2 c.151G>T r.(?) p.(Glu51*) Unknown - likely pathogenic g.44129413G>T g.44107863G>T - - EXT2_000038 - - - - Unknown - - - - - DNA DHPLC - - MO - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) white - - - - 1 Ivy Jennes
+?/+? 2 c.151G>T r.(?) p.(Glu51*) Unknown - likely pathogenic g.44129413G>T g.44107863G>T - - EXT2_000038 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.151G>T r.(?) p.(Glu51*) Unknown - likely pathogenic g.44129413G>T g.44107863G>T - - EXT2_000038 - - - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+/. 2 c.151G>T r.(?) p.(Glu51Ter) Unknown - pathogenic g.44129413G>T g.44107863G>T - - EXT2_000038 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_03 PubMed: Fusco 2019 family, 1 affected - - Italy white - - - - 1 Carmela Fusco
+/. 2 c.173del r.(?) p.(Val58GlufsTer54) Unknown - pathogenic g.44129435del g.44107885del - - EXT2_000442 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_04_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 38y - - - 1 Carmela Fusco
+?/+? 2 c.178A>T r.(?) p.(Lys60*) Unknown - likely pathogenic g.44129440A>T g.44107890A>T - - EXT2_000040 - - - - Germline - - - - - DNA DHPLC Blood - MO - {PMID18165274:Jennes, 2008} - - - Switzerland white - - - - 1 Ivy Jennes
+?/+? 2 c.197_202delinsC r.(?) p.(Val66Alafs*3) Unknown - likely pathogenic g.44129459_44129464delinsC g.44107909_44107914delinsC 197-202delTGCCGGinsC - EXT2_000041 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United Kingdom (Great Britain) - - - - - 1 Ivy Jennes
+?/+? 2 c.200dup r.(?) p.(Val68Glyfs*3) Unknown - likely pathogenic g.44129462dup g.44107912dup 201_202insC - EXT2_000042 - - - - Unknown - - - - - DNA MLPA, SEQ Blood - MO - {PMID15586175:Vink, 2004} - - - - white - - - - 1 Ivy Jennes
+/. - c.200dup r.(?) p.(Val68Glyfs*3) Unknown - pathogenic g.44129462dup - EXT2(NM_207122.1):c.200dup (p.(Val68GlyfsTer3)) - EXT2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>A r.(?) p.(Pro67=) Unknown - likely benign g.44129463G>A g.44107913G>A EXT2(NM_001178083.1):c.201G>A (p.P67=) - EXT2_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.201_202insC r.(?) p.(Val68Argfs*3) Unknown - likely pathogenic g.44129463_44129464insC g.44107913_44107914insC - - EXT2_000043 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Netherlands - - - - - 1 Ivy Jennes
?/. - c.232C>G r.(?) p.(Pro78Ala) Unknown - VUS g.44129494C>G - EXT2(NM_000401.3):c.331C>G (p.(Pro111Ala)) - EXT2_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.233del r.(?) p.(Pro78Glnfs*34) Unknown - likely pathogenic g.44129495del g.44107945del 233delC - EXT2_000044 - - - - Germline - - - - - DNA SSCA Blood - MO - {PMID11170095:Seki, 2001} 3 patient - - Japan Asian - - - - 1 Ivy Jennes
+?/+? 2 c.244del r.(?) p.(Asp82Ilefs*30) Unknown - likely pathogenic g.44129506del g.44107956del 244delG - EXT2_000318 - - - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Greece white - - - - 1 Ivy Jennes
+/. 2 c.244del r.(?) p.(Asp82IlefsTer30) Unknown - pathogenic g.44129506del g.44107956del - - EXT2_000318 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT2 FamEXT2_05 PubMed: Fusco 2019 family, 1 affected - - Italy white - - - - 1 Carmela Fusco
+?/+? 2 c.244dup r.(?) p.(Asp82Glyfs*11) Unknown - likely pathogenic g.44129506dup g.44107956dup 239-244insG - EXT2_000045 - - - - Unknown - - - - - DNA SEQ - - MO - {PMID10679937:Wuyts, 2000} Data from Raskind, unpublished - - - - - - - - 1 Ivy Jennes
+?/+? 2 c.244dup r.(?) p.(Asp82Glyfs*11) Unknown - likely pathogenic g.44129506dup g.44107956dup 239-244insG - EXT2_000045 - - - - Germline - - - - - DNA SEQ - - MO - {PMID18666861:Liu, 2008} 5 patients in family, 3 generations - - China Asian - - - - 1 Ivy Jennes
+?/+? 2 c.244_245insC r.(?) p.(Asp82Alafs*11) Unknown - likely pathogenic g.44129506_44129507insC g.44107956_44107957insC - - EXT2_000239 - - - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 2 c.245del r.(?) p.(Asp82Valfs*30) Unknown - likely pathogenic g.44129507del g.44107957del 245delA - EXT2_000046 - - - - Germline - - - - - DNA DHPLC Blood - MO - {PMID16088908:Pedrini, 2005} - - - Italy - - - - - 1 Ivy Jennes
+?/+ 2 c.253T>C r.(?) p.(Cys85Arg) Unknown - likely pathogenic g.44129515T>C g.44107965T>C - - EXT2_000047 This variant is reported as pathogenic by Uniprot. - - - Germline - - - - - DNA SSCA Blood - MO - {PMID10429361:Park, 1999} - - - Korea - - - - - 1 Ivy Jennes
?/. - c.260T>G r.(?) p.(Met87Arg) Unknown - VUS g.44129522T>G - - - EXT2_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264C>T r.(?) p.(His88=) Unknown - benign g.44129526C>T g.44107976C>T EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=) - EXT2_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(His88=) Unknown - likely benign g.44129526C>T - EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=) - EXT2_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264C>T r.(?) p.(His88=) Unknown - benign g.44129526C>T - EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=) - EXT2_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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