All variants in the ADAMTS13 gene

Information The variants shown are described using the NM_139025.3 transcript reference sequence.

119 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp) - VUS g.136287582C>K g.133422462C>K rs34024143 - ADAMTS13_000046 - - - - Germline - - - 0 - Judy Savige
-/. - c.19C>T r.(?) p.(Arg7Trp) - benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.19C>T r.(?) p.(Arg7Trp) - likely benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 209 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34024143 Germline - 209/2792 individuals - 0 - Mohammed Faruq
-?/. - c.19C>T r.(?) p.(Arg7Trp) - likely benign g.136287582C>T g.133422462C>T - - ADAMTS13_000062 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34024143 Germline - 8/2792 individuals - 0 - Mohammed Faruq
+/? ? c.237C>G r.(?) p.(Ile79Met) - pathogenic g.136289505C>G g.133424385C>G - - ADAMTS13_000022 submitted through SIB; ExPASy_067770 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.262G>A r.(?) p.(Val88Met) - pathogenic g.136289530G>A g.133424410G>A - - ADAMTS13_000027 submitted through SIB; ExPASy_027110; The mutation results in reduced protein secretion and proteolytic activity PubMed: Peyvandi et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.286C>G r.(?) p.(His96Asp) - pathogenic g.136289554C>G g.133424434C>G - - ADAMTS13_000029 submitted through SIB; ExPASy_027111 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.304C>T r.(?) p.(Arg102Cys) - pathogenic g.136289572C>T g.133424452C>T - - ADAMTS13_000030 submitted through SIB; ExPASy_027112 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.356C>T r.(?) p.(Ser119Phe) - pathogenic g.136290674C>T g.133425554C>T - - ADAMTS13_000015 submitted through SIB; ExPASy_067771 PubMed: Meyer et al (2008) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.357C>T r.(?) p.(Ser119=) - likely benign g.136290675C>T - - - ADAMTS13_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.420C>T r.(?) p.(Ala140=) - benign g.136291063C>T g.133425943C>T ADAMTS13(NM_139025.4):c.420C>T (p.A140=) - ADAMTS13_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/? ? c.533T>C r.(?) p.(Ile178Thr) - pathogenic g.136291176T>C g.133426056T>C - - ADAMTS13_000013 submitted through SIB; ExPASy_067772 PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.577C>T r.(?) p.(Arg193Trp) - pathogenic g.136291356C>T g.133426236C>T - - ADAMTS13_000011 submitted through SIB; ExPASy_027113; The mutation results in reduced protein secretion and proteolytic activity PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.577C>T r.(?) p.(Arg193Trp) - pathogenic g.136291356C>T g.133426236C>T - - ADAMTS13_000011 submitted through SIB; ExPASy_027113; The mutation results in reduced protein secretion and proteolytic activity PubMed: Matsumoto et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
-/. - c.582C>T r.(?) p.(Gly194=) - benign g.136291361C>T g.133426241C>T - - ADAMTS13_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? ? c.587C>T r.(?) p.(Thr196Ile) - pathogenic g.136291366C>T g.133426246C>T - - ADAMTS13_000021 submitted through SIB; ExPASy_027114; Corresponds to rs121908470 in dbSNP PubMed: Schneppenheim et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.587C>T r.(?) p.(Thr196Ile) - pathogenic g.136291366C>T g.133426246C>T - - ADAMTS13_000021 submitted through SIB; ExPASy_027114; Corresponds to rs121908470 in dbSNP PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.607T>C r.(?) p.(Ser203Pro) - pathogenic g.136291386T>C g.133426266T>C - - ADAMTS13_000023 submitted through SIB; ExPASy_067773 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
-/. - c.686+4T>G r.spl? p.? - benign g.136291469T>G g.133426349T>G - - ADAMTS13_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? ? c.695T>A r.(?) p.(Leu232Gln) - pathogenic g.136293762T>A g.133428642T>A - - ADAMTS13_000016 submitted through SIB; ExPASy_067774 PubMed: Schneppenheim et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.702C>A r.(?) p.(His234Gln) - pathogenic g.136293769C>A g.133428649C>A - - ADAMTS13_000037 submitted through SIB; ExPASy_027115 PubMed: Shibagaki et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.703G>C r.(?) p.(Asp235His) - pathogenic g.136293770G>C g.133428650G>C - - ADAMTS13_000004 submitted through SIB; ExPASy_067775 PubMed: Assink et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.749C>T r.(?) p.(Ala250Val) - pathogenic g.136293816C>T g.133428696C>T - - ADAMTS13_000038 submitted through SIB; ExPASy_027116; The mutation results in strong reduction of proteolytic activity PubMed: Uchida et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.769C>A r.(?) p.(Arg257Ser) - likely benign g.136293836C>A - ADAMTS13(NM_139025.4):c.769C>A (p.R257S) - ADAMTS13_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.788C>G r.(?) p.(Ser263Cys) - pathogenic g.136293855C>G g.133428735C>G - - ADAMTS13_000017 submitted through SIB; ExPASy_067776 PubMed: Schneppenheim et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.802C>A r.(?) p.(Arg268=) - likely benign g.136293869C>A - ADAMTS13(NM_139025.4):c.802C>A (p.R268=) - ADAMTS13_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.803G>C r.(?) p.(Arg268Pro) - pathogenic g.136293870G>C g.133428750G>C - - ADAMTS13_000039 submitted through SIB; ExPASy_027117; The mutation results in lack of protein secretion and loss of proteolytic activity PubMed: Kokame et al (2002) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.824+7G>A r.(=) p.(=) - likely benign g.136293898G>A - ADAMTS13(NM_139025.4):c.824+7G>A - ADAMTS13_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.825-329dup r.(=) p.(=) - benign g.136294730dup g.133429610dup ADAMTS13(NM_139025.4):c.825-329dupT - ADAMTS13_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.825-170T>C r.(=) p.(=) - benign g.136294889T>C g.133429769T>C ADAMTS13(NM_139025.4):c.825-170T>C - ADAMTS13_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/? ? c.911A>G r.(?) p.(Tyr304Cys) - pathogenic g.136295145A>G g.133430025A>G - - ADAMTS13_000009 submitted through SIB; ExPASy_067777 PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.932G>A r.(?) p.(Cys311Tyr) - pathogenic g.136295166G>A g.133430046G>A - - ADAMTS13_000003 submitted through SIB; ExPASy_067778 PubMed: Assink et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.936C>T r.(?) p.(Arg312=) - likely benign g.136295170C>T - ADAMTS13(NM_139025.4):c.936C>T (p.R312=) - ADAMTS13_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.987+11C>T r.(=) p.(=) - benign g.136295232C>T g.133430112C>T - - ADAMTS13_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.987+69A>C r.(=) p.(=) - benign g.136295290A>C g.133430170A>C ADAMTS13(NM_139025.4):c.987+69A>C - ADAMTS13_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.988-76G>A r.(=) p.(=) - benign g.136297633G>A g.133432512G>A ADAMTS13(NM_139025.4):c.988-76G>A - ADAMTS13_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/? ? c.1039T>A r.(?) p.(Cys347Ser) - pathogenic g.136297760T>A g.133432639T>A - - ADAMTS13_000018 submitted through SIB; ExPASy_067780 PubMed: Schneppenheim et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1045C>T r.(?) p.(Arg349Cys) - pathogenic g.136297766C>T g.133432645C>T - - ADAMTS13_000012 submitted through SIB; ExPASy_067781 PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1058C>T r.(?) p.(Pro353Leu) - pathogenic g.136297779C>T g.133432658C>T - - ADAMTS13_000005 submitted through SIB; ExPASy_067782 PubMed: Assink et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1058C>T r.(?) p.(Pro353Leu) - pathogenic g.136297779C>T g.133432658C>T - - ADAMTS13_000005 submitted through SIB; ExPASy_067782 PubMed: Schneppenheim et al (2003) - - Unknown - - - 0 - SIB - Livia Famiglietti
+?/. - c.1058C>T r.(?) p.(Pro353Leu) - likely pathogenic g.136297779C>T - - - ADAMTS13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1156C>A r.(?) p.(Arg386Ser) - likely benign g.136298561C>A - ADAMTS13(NM_139025.4):c.1156C>A (p.R386S) - ADAMTS13_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1157G>A r.(?) p.(Arg386His) - likely benign g.136298562G>A - ADAMTS13(NM_139025.4):c.1157G>A (p.R386H) - ADAMTS13_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.1170G>C r.(?) p.(Trp390Cys) - pathogenic g.136298575G>C g.133433455G>C - - ADAMTS13_000041 submitted through SIB; ExPASy_027118 PubMed: Licht et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1193G>A r.(?) p.(Arg398His) - pathogenic g.136298598G>A g.133433478G>A - - ADAMTS13_000031 submitted through SIB; ExPASy_027119 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.1245-3C>T r.spl? p.? - likely benign g.136298758C>T - ADAMTS13(NM_139025.4):c.1245-3C>T - ADAMTS13_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1308+17G>T r.(=) p.(=) - likely benign g.136298841G>T - ADAMTS13(NM_139025.4):c.1308+17G>T - ADAMTS13_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1342C>G r.(?) p.(Gln448Glu) - benign g.136301982C>G g.133436862C>G ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E) - ADAMTS13_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1342C>G r.(?) p.(Gln448Glu) - benign g.136301982C>G g.133436862C>G ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E) - ADAMTS13_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1370C>T r.(?) p.(Pro457Leu) - VUS g.136302010C>T g.133436890C>T - - ADAMTS13_000045 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1370C>T r.(?) p.(Pro457Leu) - VUS g.136302010C>T - ADAMTS13(NM_139025.4):c.1370C>T (p.P457L) - ADAMTS13_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.1520G>A r.(?) p.(Arg507Gln) - pathogenic g.136302953G>A g.133437833G>A - - ADAMTS13_000020 submitted through SIB; ExPASy_067783 PubMed: Schneppenheim et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1520G>A r.(?) p.(Arg507Gln) - pathogenic g.136302953G>A g.133437833G>A - - ADAMTS13_000020 submitted through SIB; ExPASy_067783 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1523G>A r.(?) p.(Cys508Tyr) - pathogenic g.136302956G>A g.133437836G>A - - ADAMTS13_000040 submitted through SIB; ExPASy_027122; The mutation results in lack of protein secretion and loss of proteolytic activity PubMed: Kokame et al (2002) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1574G>A r.(?) p.(Gly525Asp) - pathogenic g.136303007G>A g.133437887G>A - - ADAMTS13_000010 submitted through SIB; ExPASy_067784 PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1582A>G r.(?) p.(Arg528Gly) - pathogenic g.136303015A>G g.133437895A>G - - ADAMTS13_000032 submitted through SIB; ExPASy_027123 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. - c.1672C>T r.(?) p.(Arg558Trp) - VUS g.136303453C>T g.133438333C>T ADAMTS13(NM_139025.4):c.1672C>T (p.R558W) - ADAMTS13_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1716A>G r.(?) p.(Thr572=) - benign g.136304497A>G g.133439376A>G ADAMTS13(NM_139025.4):c.1716A>G (p.T572=) - ADAMTS13_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1787-7C>T r.(=) p.(=) - likely benign g.136305458C>T - ADAMTS13(NM_139025.4):c.1787-7C>T - ADAMTS13_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? ? c.1787C>T r.(?) p.(Ala596Val) - pathogenic g.136305465C>T g.133440344C>T - - ADAMTS13_000024 submitted through SIB; ExPASy_067785 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.1816G>C r.(?) p.(Ala606Pro) - pathogenic g.136305494G>C g.133440373G>C - - ADAMTS13_000014 submitted through SIB; ExPASy_067786 PubMed: Fujimura et al (2009) - - Unknown - - - 0 - SIB - Livia Famiglietti
-/. - c.1852C>G r.(?) p.(Pro618Ala) - benign g.136305530C>G g.133440409C>G ADAMTS13(NM_139025.4):c.1852C>G (p.P618A) - ADAMTS13_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1852C>G r.(?) p.(Pro618Ala) - VUS g.136305530C>G g.133440409C>G ADAMTS13(NM_139025.4):c.1852C>G (p.P618A) - ADAMTS13_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1874G>A r.(?) p.(Arg625His) - benign g.136305552G>A g.133440431G>A ADAMTS13(NM_139025.4):c.1874G>A (p.R625H) - ADAMTS13_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1874G>A r.(?) p.(Arg625His) - VUS g.136305552G>A g.133440431G>A ADAMTS13(NM_139025.4):c.1874G>A (p.R625H) - ADAMTS13_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? ? c.1973A>G r.(?) p.(Tyr658Cys) - pathogenic g.136307524A>G g.133442403A>G - - ADAMTS13_000001 submitted through SIB; ExPASy_067787 PubMed: Lee et al (2011) - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. - c.1976G>A r.(?) p.(Arg659Lys) - VUS g.136307527G>A - ADAMTS13(NM_139025.4):c.1976G>A (p.R659K) - ADAMTS13_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.2012C>T r.(?) p.(Pro671Leu) - pathogenic g.136307563C>T g.133442442C>T - - ADAMTS13_000019 submitted through SIB; ExPASy_067788 PubMed: Schneppenheim et al (2006) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.2017A>T r.(?) p.(Ile673Phe) - pathogenic g.136307568A>T g.133442447A>T - - ADAMTS13_000042 submitted through SIB; ExPASy_027126; The mutation results in lack of protein secretion PubMed: Matsumoto et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.2074C>T r.(?) p.(Arg692Cys) - pathogenic g.136307625C>T g.133442504C>T - - ADAMTS13_000033 submitted through SIB; ExPASy_027127 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.2195C>T r.(?) p.(Ala732Val) - likely benign g.136307825C>T g.133442704C>T - - ADAMTS13_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? ? c.2272T>C r.(?) p.(Cys758Arg) - pathogenic g.136308534T>C g.133443413T>C - - ADAMTS13_000025 submitted through SIB; ExPASy_067789 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
-/. - c.2280C>T r.(?) p.(Gly760=) - benign g.136308542C>T g.133443421C>T ADAMTS13(NM_139025.4):c.2280C>T (p.G760=) - ADAMTS13_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.2294G>A r.(?) p.(Arg765Gln) - VUS g.136308556G>A g.133443435G>A ADAMTS13(NM_139025.4):c.2294G>A (p.R765Q) - ADAMTS13_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2708C>T r.(?) p.(Ser903Leu) - benign g.136310917C>T g.133445796C>T ADAMTS13(NM_139025.4):c.2708C>T (p.S903L) - ADAMTS13_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2708C>T r.(?) p.(Ser903Leu) - likely benign g.136310917C>T g.133445796C>T - - ADAMTS13_000067 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.022 - 0 - Global Variome, with Curator vacancy
+/? ? c.2723G>A r.(?) p.(Cys908Tyr) - pathogenic g.136310932G>A g.133445811G>A - - ADAMTS13_000043 submitted through SIB; ExPASy_027131; The mutation results in lack of protein secretion PubMed: Matsumoto et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.2723G>C r.(?) p.(Cys908Ser) - pathogenic g.136310932G>C g.133445811G>C - - ADAMTS13_000026 submitted through SIB; ExPASy_067790 PubMed: Veyradier et al (2004) - - Unknown - - - 0 - SIB - Livia Famiglietti
-?/. - c.2732-20T>G r.(=) p.(=) - likely benign g.136313700T>G - ADAMTS13(NM_139025.4):c.2732-20T>G - ADAMTS13_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? ? c.2851T>G r.(?) p.(Cys951Gly) - pathogenic g.136313839T>G g.133448718T>G - - ADAMTS13_000034 submitted through SIB; ExPASy_027132 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
-/. - c.2861+75G>A r.(=) p.(=) - benign g.136313924G>A g.133448803G>A ADAMTS13(NM_139025.4):c.2861+75G>A - ADAMTS13_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2910C>T r.(?) p.(Val970=) - benign g.136314952C>T g.133449831C>T - - ADAMTS13_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2915G>A r.(?) p.(Arg972Gln) - likely benign g.136314957G>A g.133449836G>A - - ADAMTS13_000073 - PubMed: Dias 2019 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.3045-48T>C r.(=) p.(=) - benign g.136319489T>C g.133454367T>C ADAMTS13(NM_139025.4):c.3045-48T>C - ADAMTS13_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.3045-41G>A r.(=) p.(=) - benign g.136319496G>A g.133454374G>A ADAMTS13(NM_139025.4):c.3045-41G>A - ADAMTS13_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.3047G>A r.(?) p.(Trp1016Ter) - pathogenic g.136319539G>A g.133454417G>A - - ADAMTS13_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3070T>G r.(?) p.(Cys1024Gly) - VUS g.136319562T>G g.133454440T>G - - ADAMTS13_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/? ? c.3070T>G r.(?) p.(Cys1024Gly) - pathogenic g.136319562T>G g.133454440T>G - - ADAMTS13_000035 submitted through SIB; ExPASy_027133 PubMed: Levy et al (2001) - - Unknown - - - 0 - SIB - Livia Famiglietti
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