Full data view for gene EXT1

A Multiple Osteochondroma Mutation Database
Information The variants shown are described using the NM_000127.2 transcript reference sequence.

870 entries on 9 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     
+?/. - c.(1515-10000_1515-1)_*1233{0} r.? p.? Unknown - likely pathogenic g.(133492078_133502077)_(133812544_?)del g.(133807325_133817324)_(134127791_?)del - - EXT1_000002 variant estimated from figure, non-contiguous deletion includes LRGUK, interrupted by small non-deleted LRGUK-segment; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft EXOC4-Pat2 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(1515-10000_1515-1)_*1233{0} r.? p.? Unknown - likely pathogenic g.(133492078_133502077)_(133812544_?)del g.(133807325_133817324)_(134127791_?)del - - EXT1_000002 variant estimated from figure, non-contiguous deletion includes LRGUK, interrupted by small non-deleted LRGUK-segment; reported as candidate gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft EXOC4-Pat3 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
-/- 1 c.-776T>C r.spl? p.? Unknown - benign g.119124061A>G g.118111822A>G - - EXT1_000011 - {PMID17041877:Lonie, 2006} - - Unknown - 77 - - - DNA SEQ - - MO - {PMID17041877:Lonie, 2006} - - - - - - - - - 1 Ivy Jennes
-/- 1 c.-773-511G>C r.(=) p.(=) Unknown - benign g.119124569C>G g.118112330C>G - - EXT1_000575 SNP rs6469721 C/G; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable. - - rs6469721 Unknown - - - - - DNA SEQ Blood - MO - - - - - - - - - - - 1 Ivy Jennes
-/- 1 c.-773-385G>C r.(=) p.(=) Unknown - benign g.119124443C>G g.118112204C>G - - EXT1_000576 SNP rs34016643 C/G; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable. - - rs34016643 Unknown - - - - - DNA SEQ Blood - MO - - - - - - - - - - - 1 Ivy Jennes
-/- 1 c.-773-292G>A r.(=) p.(=) Unknown - benign g.119124350C>T g.118112111C>T - - EXT1_000577 SNP rs7001641 C/T; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable. - - rs700164 Unknown - - - - - DNA SEQ Blood - MO - - - - - - - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - ex1del - EXT1_000009 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United States - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - ex1del - EXT1_000010 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - - - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - c.-772-?_962+?del - EXT1_000006 - {PMID15221792:White, 2004} - - Germline - - - - - DNA MLPA - - MO - {PMID15221792:White, 2004} - - - Spain - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - c.-772-?_962+?del - EXT1_000007 - {PMID15221792:White, 2004} - - De novo - - - - - DNA MLPA - - MO - {PMID15221792:White, 2004} - - - Netherlands - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - c.-772-?_962+?del - EXT1_000008 - {PMID15221792:White, 2004} - - Germline - - - - - DNA MLPA - - MO - {PMID15221792:White, 2004} - - - United States - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - c.-722-?-962+?del (del ex 1) - EXT1_000004 - {PMID17301954:Signori, 2007} - - Unknown - - - - - DNA MLPA Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 1 c.(?_-773)_(962+1_963-1)del r.spl? p.? Unknown - likely pathogenic g.(118849441_119122323)_(119124058_?)del - c.-722-?-962+?del (del ex 1) - EXT1_000005 - {PMID17301954:Signori, 2007} - - Unknown - - - - - DNA MLPA Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+/. _1_1i c.-773_(962+1_963-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(118849441_119122323)_(119124058_?)del g.(117837202_118110084)_(118111819_?)del c. (?-1)_(962+ 1_963-1)del - EXT1_000742 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_21_pt1 PubMed: Fusco 2019 2 families, 2 affected M - Italy white 10y - - - 2 Carmela Fusco
+?/+? 1_3 c.(?_-773)_(1164+1_1165-1)del r.spl? p.? Unknown - likely pathogenic g.(118842589_118847682)_(119124058_?)del - c.-772-?_1164+?del (del ex 1-3) - EXT1_000402 - Bakker, not yet published - - Unknown - - - - - DNA SEQ Blood - MO - Bakker, not yet published - - - - - - - - - 1 Bert Bakker
+?/+? 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - likely pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000020 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United States - - - - - 1 Ivy Jennes
+?/+? 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - likely pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000021 - {PMID12239711:Hall, 2002} - - Germline - - - - - DNA SEQ Blood - MO - {PMID12239711:Hall, 2002} - - - - - - - - - 1 Ivy Jennes
+?/+? 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - likely pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000022 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - United States - - - - - 1 Ivy Jennes
+?/+? 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - likely pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000023 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Croatia (Hrvatska) - - - - - 1 Ivy Jennes
+/+ 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000019 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - - - - - - - 1 Ivy Jennes
+?/+? 1_11 c.(?_-773)_(*349_?)del r.? p.? Unknown - likely pathogenic g.(?_118811602)_(119124058_?)del - Del EXT1 - EXT1_000591 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Bulgaria Bulgary - - - - 1 Ivy Jennes
+?/+? - c.(-1::*1) r.? p.? Unknown - likely pathogenic g.(118811950_119123286)_qterdelins[NC_000004.11:(107700001_114100000)_qter] - - t(4;8)(q25;q24.1) EXT1_000724 - PubMed: Jennes 2008 - - Germline - - - - - DNA FISH Blood - MO 18165274-Fam156 PubMed: Jennes 2008 family - - United States - - - - - 1 Ivy Jennes
+?/+? - c.(962+15747::962+84215) r.? p.? Paternal (confirmed) - likely pathogenic g.(119038109-119106577)_qterdelins[NC_000019.9:(35762292_35940346)_qter] - - t(8;19)(q24.11;q13.13) EXT1_000725 BAC clones RP11-89P19, RP11-260I14, and RP11-2D13 give split signal PubMed: Pramparo 2003 - - Germline yes - - - - DNA FISH - - MO 14556251-FamPat42 PubMed: Pramparo 2003 4-generation family, 8 affecteds (2F, 6M), miscarriages and newborn deaths M - Italy - - - - - 8 Ivy Jennes
+/. 1_11 c.-773_*349{0} r.? p.? Unknown - pathogenic (dominant) g.(?_118811602)_(119124058_?)del g.(?_117799363)_(118111819_?)del c. (?-1)_(*1_?)del - EXT1_000743 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_61_pt1 PubMed: Fusco 2019 2 families, 2 affected M - Italy white 25y - - - 2 Carmela Fusco
+?/+? 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.119123285T>C g.118111046T>C - - EXT1_000432 Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable. Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.119123285T>A g.118111046T>A - - EXT1_000683 Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable. Jennes, not yet published - - Unknown - - - - - DNA SEQ - - MO - Jennes, not yet published - F - - - - - - - 1 Ivy Jennes
+?/+? 1 c.2T>A r.(?) p.(Met1?) Unknown - likely pathogenic g.119123284A>T g.118111045A>T - - EXT1_000027 Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable. {PMID17301954:Signori, 2007} - - Unknown - - - - - DNA DHPLC Blood - MO - {PMID17301954:Signori, 2007} - - - Italy - - - - - 1 Ivy Jennes
+?/+? 1 c.2T>A r.(?) p.(Met1?) Unknown - likely pathogenic g.119123284A>T g.118111045A>T - - EXT1_000433 Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable. Pedrini, not yet published - - Unknown - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+/+ 1 c.4C>T r.(?) p.(Gln2*) Unknown - pathogenic g.119123282G>A g.118111043G>A - - EXT1_000028 - {PMID16088908:Pedrini, 2005} - - Germline - - - - - DNA DHPLC Blood - MO - {PMID16088908:Pedrini, 2005} - - - Italy - - - - - 1 Ivy Jennes
?/. - c.5A>G r.(?) p.(Gln2Arg) Unknown - VUS g.119123281T>C g.118111042T>C EXT1(NM_000127.2):c.5A>G (p.(Gln2Arg)) - EXT1_000785 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.119123278G>A - EXT1(NM_000127.2):c.8C>T (p.(Ala3Val)) - EXT1_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.15dup r.(?) p.(Arg6Thrfs*24) Unknown - likely pathogenic g.119123276dup g.118111037dup - - EXT1_000029 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Hungary - - - - - 1 Ivy Jennes
+?/+? 1 c.15dup r.(?) p.(Arg6Thrfs*24) Unknown - likely pathogenic g.119123276dup g.118111037dup 15dupA - EXT1_000547 - Casey, not yet published - - Unknown - - - - - DNA SEQ - - MO - Casey, not yet published - - - - - - - - - 1 Brett Casey
+?/+? 1 c.28del r.(?) p.(Leu10Cysfs*126) Unknown - likely pathogenic g.119123259del g.118111020del c.28delC - EXT1_000601 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published Family 322 (2 patients) - - Belgium Turkey - - - - 1 Ivy Jennes
+?/+? 1 c.37del r.(?) p.(Ala13Leufs*123) Unknown - likely pathogenic g.119123249del g.118111010del 37delG - EXT1_000030 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.41del r.(?) p.(Gly14Alafs*122) Unknown - likely pathogenic g.119123246del g.118111007del 42delG, protein change G15 - EXT1_000031 - {PMID11432960:Francannet, 2001} - - Germline - - - - - DNA SSCA Blood - MO - {PMID11432960:Francannet, 2001} Proband = A1-1 (2 patients in family) - - France - - - - - 1 Ivy Jennes
+?/+? 1 c.45_46del r.(?) p.(Cys16Serfs*13) Unknown - likely pathogenic g.119123240_119123241del g.118111001_118111002del c.45_46delTT - EXT1_000434 - Pedrini, not yet published - - Unknown - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.45_46del r.(?) p.(Cys16Serfs*13) Unknown - likely pathogenic g.119123240_119123241del g.118111001_118111002del c.45_46delTT - EXT1_000607 - {PMID19344451:Heinritz, 2009} - - Germline - - - - - DNA SEQ - - MO - {PMID19344451:Heinritz, 2009} - - - Germany - - - - - 1 Ivy Jennes
+?/+? 1 c.50dup r.(?) p.(Ala18Argfs*12) Unknown - likely pathogenic g.119123236dup g.118110997dup - - EXT1_000032 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Germany - - - - - 1 Ivy Jennes
+/. - c.56_59del r.(?) p.(Leu19ArgfsTer116) Unknown - pathogenic g.119123227_119123230del g.118110988_118110991del EXT1(NM_000127.2):c.56_59delTTTT (p.L19Rfs*116) - EXT1_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.60_64del r.(?) p.(Tyr22Argfs*6) Unknown - pathogenic (dominant) g.119123226_119123230del g.118110987_118110991del - - EXT1_000775 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_10_a_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 8y - - - 1 Carmela Fusco
+/. 1 c.60_64del r.(?) p.(Tyr22Argfs*6) Unknown - pathogenic (dominant) g.119123226_119123230del g.118110987_118110991del - - EXT1_000775 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_10_b_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 16y - - - 1 Carmela Fusco
+?/+? 1 c.64del r.(?) p.(Tyr22Ilefs*114) Unknown - likely pathogenic g.119123225del g.118110986del c.64delT - EXT1_000648 - Jennes, not yet published - - Unknown - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - - - - - - - 1 Ivy Jennes
+/. 1 c.64_71del r.(?) p.(Tyr22Argfs*5) Unknown - pathogenic (dominant) g.119123215_119123222del g.118110976_118110983del - - EXT1_000774 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_01_pt1 PubMed: Fusco 2019 family, 2 affected - - Italy white - - - - 2 Carmela Fusco
+?/+? 1 c.68del r.(?) p.(Phe23Serfs*113) Unknown - likely pathogenic g.119123220del g.118110981del c.66delT - EXT1_000435 - Pedrini, not yet published - - Unknown - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.82_86del r.(?) p.(Phe28Glyfs*14) Unknown - likely pathogenic g.119123202_119123206del g.118110963_118110967del - - EXT1_000033 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Belgium - - - - - 1 Ivy Jennes
+?/+? 1 c.88del r.(?) p.(Ala30Hisfs*106) Unknown - likely pathogenic g.119123200del g.118110961del 86-88delG - EXT1_000034 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.88del r.(?) p.(Ala30Hisfs*106) Unknown - likely pathogenic g.119123200del g.118110961del 86-88delG - EXT1_000035 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.92del r.(?) p.(Ser31*) Unknown - likely pathogenic g.119123194del g.118110955del 92delC - EXT1_000036 - {PMID16088908:Pedrini, 2005} - - De novo - - - - - DNA DHPLC Blood - MO - {PMID16088908:Pedrini, 2005} - - - Italy - - - - - 1 Ivy Jennes
-?/. - c.108G>A r.(?) p.(Arg36=) Unknown - likely benign g.119123178C>T - EXT1(NM_000127.2):c.108G>A (p.R36=) - EXT1_000789 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109A>T r.(?) p.(Arg37*) Unknown - likely pathogenic g.119123177T>A - EXT1(NM_000127.2):c.109A>T (p.(Arg37*)) - EXT1_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114A>G r.(?) p.(Glu38=) Unknown - benign g.119123172T>C g.118110933T>C EXT1(NM_000127.2):c.114A>G (p.E38=) - EXT1_000740 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.114_115insTT r.(?) p.(Glu39Leufs*98) Unknown - likely pathogenic g.119123171_119123172insAA g.118110932_118110933insAA - - EXT1_000037 - {PMID17041877:Lonie, 2006} - - Unknown - - - - - DNA DHPLC - - MO - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) white - - - - 1 Ivy Jennes
+?/+? 1 c.115del r.(?) p.(Glu39Asnfs*97) Unknown - likely pathogenic g.119123171del g.118110932del 115delG - EXT1_000038 - {PMID18373409: Leube, 2008} - - Germline - - - - - DNA SEQ - - MO - {PMID18373409: Leube, 2008} - - - - - - - - - 1 Ivy Jennes
+?/+? 1 c.115G>T r.(?) p.(Glu39*) Unknown - likely pathogenic g.119123171C>A g.118110932C>A - - EXT1_000548 - Casey, not yet published - - Unknown - - - - - DNA SEQ - - MO - Casey, not yet published - - - - - - - - - 1 Brett Casey
+?/+? 1 c.115G>T r.(?) p.(Glu39*) Unknown - likely pathogenic g.119123171C>A g.118110932C>A - - EXT1_000581 - {PMID17589361:Alvarez, 2007} - - Unknown - - - - - DNA SEQ Blood - MO - {PMID17589361:Alvarez, 2007} - - - - - - - - - 1 Ivy Jennes
-/- 1 c.117A>G r.(=) p.(=) Unknown - benign g.119123169T>C g.118110930T>C - - EXT1_000039 Synonymous substitution. Codon GAA (freq: 0.417) changed to GAG (freq: 0.583).This variation does not alter the protein sequence. {PMID10441575:Bovée, 1999} - - Unknown - 14 - - - DNA SEQ - - chondrosarcoma - {PMID10441575:Bovée, 1999} - - - - - - - - - 1 Ivy Jennes
-/. - c.117A>G r.(?) p.(Glu39=) Unknown - benign g.119123169T>C g.118110930T>C EXT1(NM_000127.2):c.117A>G (p.E39=) - EXT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.118del r.(?) p.(His40Thrfs*96) Unknown - likely pathogenic g.119123168del g.118110929del 769delC - EXT1_000040 This frameshift is located in a polypyrimidine tract. {PMID9521425:Raskind, 1998} - - De novo - - - - - DNA SEQ - - MO - {PMID9521425:Raskind, 1998} - - - United States - - - - - 1 Ivy Jennes
+?/+? 1 c.120_121del r.(?) p.(His40Glnfs*3) Unknown - likely pathogenic g.119123168_119123169del g.118110929_118110930del c.120_121delCA - EXT1_000436 - Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
-/- 1 c.122G>A r.(?) p.(Ser41Asn) Unknown - benign g.119123164C>T g.118110925C>T - - EXT1_000041 The mutations did not segregate with MO in the family. Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Ser & Asn (Grantham dist.: 46 [0-215]). {PMID18373409: Leube, 2008} - - Germline - - - - - DNA SEQ - - MO - {PMID18373409: Leube, 2008} - - - - - - - - - 1 Ivy Jennes
-?/. - c.122G>A r.(?) p.(Ser41Asn) Unknown - likely benign g.119123164C>T - EXT1(NM_000127.2):c.122G>A (p.S41N), EXT1(NM_000127.3):c.122G>A (p.S41N) - EXT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122G>A r.(?) p.(Ser41Asn) Unknown - likely benign g.119123164C>T - EXT1(NM_000127.2):c.122G>A (p.S41N), EXT1(NM_000127.3):c.122G>A (p.S41N) - EXT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.142del r.(?) p.(His48Thrfs*88) Unknown - likely pathogenic g.119123145del g.118110906del c.142delC - EXT1_000618 - {PMID19309273:Vanita, 2009} - - Germline - - - - - DNA SEQ - - MO - {PMID19309273:Vanita, 2009} - - - India - - - - - 1 Ivy Jennes
+?/+? 1 c.142_143insCCCGCACC r.(?) p.(His48Profs*91) Unknown - likely pathogenic g.119123148_119123149insGGGGGTGC g.118110909_118110910insGGGGGTGC c.137_138insGCACCCCC - EXT1_000633 - Pedrini, not yet published - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - - - Germany - - - - - 1 Elena Pedrini
+/. 1 c.173del r.(?) p.(Phe58Serfs*78) Unknown - pathogenic (dominant) g.119123114del g.118110875del - - EXT1_000773 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_02_a_pt1 PubMed: Fusco 2019 family, 1 affected F - Italy white 10y - - - 1 Carmela Fusco
+/. 1 c.173del r.(?) p.(Phe58Serfs*78) Unknown - pathogenic (dominant) g.119123114del g.118110875del - - EXT1_000773 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_02_b_pt1 PubMed: Fusco 2019 family, 2 affected F - Italy white 10y - - - 2 Carmela Fusco
+/. 1 c.173del r.(?) p.(Phe58Serfs*78) Unknown - pathogenic (dominant) g.119123114del g.118110875del - - EXT1_000773 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_02_b_pt2 PubMed: Fusco 2019 - F - Italy white 45y - - - 1 Carmela Fusco
+?/+? 1 c.176del r.(?) p.(Pro59Argfs*77) Unknown - likely pathogenic g.119123112del g.118110873del 174-, 175- or 176delC - EXT1_000042 - {PMID9326317:Philippe, 1997} - - De novo - - - - - DNA SEQ - - MO - {PMID9326317:Philippe, 1997} - M - United Kingdom (Great Britain) white - - - - 1 Ivy Jennes
+?/+? 1 c.180del r.(?) p.(Asp60Glufs*76) Unknown - likely pathogenic g.119123106del g.118110867del c.180delC - EXT1_000629 - Jennes, not yet published - - Unknown - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Bulgaria Bulgary - - - - 1 Ivy Jennes
+?/+? 1 c.182del r.(?) p.(Ala61Valfs*75) Unknown - likely pathogenic g.119123104del g.118110865del 182delC - EXT1_000043 - {PMID16088908:Pedrini, 2005} - - Unknown - - - - - DNA DHPLC Blood - MO - {PMID16088908:Pedrini, 2005} - F - Italy - - - - - 1 Ivy Jennes
+?/+? 1 c.182del r.(?) p.(Ala61Valfs*75) Unknown - likely pathogenic g.119123104del g.118110865del 182delC - EXT1_000701 - Pedrini, not yet published - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - M - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.188_189insT r.(?) p.(Phe65Leufs*124) Unknown - likely pathogenic g.119123097_119123098insA g.118110858_118110859insA - - EXT1_000437 - Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.196del r.(?) p.(Val66Phefs*70) Unknown - likely pathogenic g.119123090del g.118110851del 195delG - EXT1_000549 - Casey, not yet published - - Unknown - - - - - DNA SEQ - - MO - Casey, not yet published - - - - - - - - - 1 Brett Casey
+?/+? 1 c.204G>A r.(?) p.(Trp68*) Unknown - likely pathogenic g.119123082C>T g.118110843C>T - - EXT1_000044 - {PMID9463333:Wuyts, 1998} - - Germline - - - - - DNA SSCA Blood - MO - {PMID9463333:Wuyts, 1998} Family 26 (2 patients) - - Italy white - - - - 1 Ivy Jennes
+?/+? 1 c.204G>A r.(?) p.(Trp68*) Unknown - likely pathogenic g.119123082C>T g.118110843C>T - - EXT1_000438 - Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+/. - c.204_205del r.(?) p.(Trp68Ter) Unknown - pathogenic g.119123082_119123083del g.118110843_118110844del EXT1(NM_000127.2):c.204_205delGG (p.W68*) - EXT1_000739 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.214G>A r.(?) p.(Glu72Lys) Unknown - likely pathogenic g.119123072C>T g.118110833C>T - - EXT1_000585 Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Weakly conserved amino acid, Small physicochemical difference between Glu & Lys (Grantham dist.: 56 [0-215]). {PMID17589361:Alvarez, 2007} - - Unknown - - - - - DNA SEQ Blood - MO - {PMID17589361:Alvarez, 2007} - - - - - - - - - 1 Ivy Jennes
-?/. - c.214G>A r.(?) p.(Glu72Lys) Unknown - likely benign g.119123072C>T - EXT1(NM_000127.2):c.214G>A (p.(Glu72Lys)), EXT1(NM_000127.3):c.214G>A (p.E72K) - EXT1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214G>A r.(?) p.(Glu72Lys) Unknown - VUS g.119123072C>T - EXT1(NM_000127.2):c.214G>A (p.(Glu72Lys)), EXT1(NM_000127.3):c.214G>A (p.E72K) - EXT1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.214G>T r.(?) p.(Glu72*) Unknown - likely pathogenic g.119123072C>A g.118110833C>A - - EXT1_000045 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Germany - - - - - 1 Ivy Jennes
+?/+? 1 c.218del r.(?) p.(Asn73Thrfs*63) Unknown - likely pathogenic g.119123071del g.118110832del c.218delA - EXT1_000439 - Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.218del r.(?) p.(Asn73Thrfs*63) Unknown - likely pathogenic g.119123071del g.118110832del c.218delA - EXT1_000621 - {PMID18216313:Roberts, 2008} - - Unknown - - - - - DNA SEQ - - MO - {PMID18216313:Roberts, 2008} Familial neprhopathy, nephrotic syndrome, skin infections, family history of renal disease & hearing impairment - - - - - - - - 1 Ivy Jennes
+?/+? 1 c.238del r.(?) p.(Ile80Phefs*56) Unknown - likely pathogenic g.119123048del g.118110809del c.238delA - EXT1_000046 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.238del r.(?) p.(Ile80Phefs*56) Unknown - likely pathogenic g.119123048del g.118110809del c.238delA - EXT1_000047 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC, SSCA Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.241del r.(?) p.(Ser81Profs*55) Unknown - likely pathogenic g.119123047del g.118110808del - - EXT1_000048 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - Denmark - - - - - 1 Ivy Jennes
+?/+? 1 c.247del r.(?) p.(Arg83Glyfs*53) Unknown - likely pathogenic g.119123044del g.118110805del 242-247delC - EXT1_000049 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.247del r.(?) p.(Arg83Glyfs*53) Unknown - likely pathogenic g.119123044del g.118110805del 242-247delC - EXT1_000050 - PubMed: Dobson-Stone 2000 - - Unknown - - - - - DNA DHPLC Blood - MO - PubMed: Dobson-Stone 2000 - - - - white - - - - 1 Ivy Jennes
+?/+? 1 c.247del r.(?) p.(Arg83Glyfs*53) Unknown - likely pathogenic g.119123044del g.118110805del 242-247delC - EXT1_000702 - Pedrini, not yet published - - Germline - - - - - DNA DHPLC Blood - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.247dup r.(?) p.(Arg83Profs*106) Unknown - likely pathogenic g.119123044dup g.118110805dup 885-890insC - EXT1_000051 - {PMID9150727:Wells, 1997} - - Germline - - - - - DNA SEQ - - MO - {PMID9150727:Wells, 1997} Family 125 (3 generations, 3 patients) - - United States - - - - - 1 Ivy Jennes
+?/+? 1 c.247dup r.(?) p.(Arg83Profs*106) Unknown - likely pathogenic g.119123044dup g.118110805dup 247dupC - EXT1_000052 - {PMID18165274:Jennes, 2008} - - Germline - - - - - DNA DHPLC Blood - MO - {PMID18165274:Jennes, 2008} - - - Germany - - - - - 1 Ivy Jennes
+?/+? 1 c.247dup r.(?) p.(Arg83Profs*106) Unknown - likely pathogenic g.119123044dup g.118110805dup c.247_248insC - EXT1_000440 - Pedrini, not yet published - - Germline - - - - - DNA SEQ - - MO - Pedrini, not yet published - - - Italy - - - - - 1 Elena Pedrini
+?/+? 1 c.248_249insC r.(?) p.(Gln84Alafs*105) Unknown - likely pathogenic g.119123037_119123038insG g.118110798_118110799insG - - EXT1_000053 - {PMID11432960:Francannet, 2001} - - Germline - - - - - DNA SSCA Blood - MO - {PMID11432960:Francannet, 2001} Proband = A1-2 (9 patients in family) - - France - - - - - 1 Ivy Jennes
+?/+? 1 c.249del r.(?) p.(Gln84Argfs*52) Unknown - likely pathogenic g.119123038del g.118110799del 891-892delG - EXT1_000054 - {PMID9150727:Wells, 1997} - - Germline - - - - - DNA SEQ - - MO - {PMID9150727:Wells, 1997} Family 15 (3 generations, 5 patients) - - United States - - - - - 1 Ivy Jennes
+?/+? 1 c.250C>T r.(?) p.(Gln84*) Unknown - likely pathogenic g.119123036G>A g.118110797G>A - - EXT1_000055 - {PMID10934647:Legeai-Mallet, 2000} - - Germline - - - - - DNA SSCA Blood - MO - {PMID10934647:Legeai-Mallet, 2000} 3 patients; Father & doughter with mild phenotype, son with severe phenotype. - - France - - - - - 1 Ivy Jennes
+?/+? 1 c.250C>T r.(?) p.(Gln84*) Unknown - likely pathogenic g.119123036G>A g.118110797G>A - - EXT1_000056 - {PMID11432960:Francannet, 2001} - - Germline - - - - - DNA SSCA Blood - MO - {PMID11432960:Francannet, 2001} Proband = A1-3 (5 patients in family) - - France - - - - - 1 Ivy Jennes
+?/+? 1 c.250C>T r.(?) p.(Gln84*) Unknown - likely pathogenic g.119123036G>A g.118110797G>A - - EXT1_000057 - Jennes, not yet published - - Germline - - - - - DNA SEQ Blood - MO - Jennes, not yet published - - - - - - - - - 1 Ivy Jennes
+/. 1 c.250C>T r.(?) p.(Gln84*) Unknown - pathogenic (dominant) g.119123036G>A g.118110797G>A - - EXT1_000055 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_03_pt1 PubMed: Fusco 2019 family, 3 affected F - Italy white 36y - - - 3 Carmela Fusco
+/. 1 c.250C>T r.(?) p.(Gln84*) Unknown - pathogenic (dominant) g.119123036G>A g.118110797G>A - - EXT1_000055 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_03_pt2 PubMed: Fusco 2019 - M - Italy white 4y - - - 1 Carmela Fusco
+/. 1 c.250C>T r.(?) p.(Gln84*) Unknown - pathogenic (dominant) g.119123036G>A g.118110797G>A - - EXT1_000055 - PubMed: Fusco 2019 - - Germline - - - - - DNA SEQ-NG-S blood - EXT1 FamEXT1_03_pt3 PubMed: Fusco 2019 - F - Italy white 19y - - - 1 Carmela Fusco
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