Unique variants in gene TPM1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001018005.1 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.-44_-4del likely benign r.(?) p.(=) g.63334985_63335025del - - - TPM1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-13C>T benign r.(?) p.(=) g.63335016C>T - TPM1(NM_001018004.2):c.-13C>T - TPM1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-7C>A likely benign r.(?) p.(=) g.63335022C>A - - - TPM1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.22A>G likely pathogenic r.(?) p.(Met8Val) g.63335050A>G - - - chr15_005102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.27G>A likely benign r.(?) p.(=) g.63335055G>A - - - TPM1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.43A>G VUS r.(?) p.(Lys15Glu) g.63335071A>G - TPM1(NM_001018004.1):c.43A>G (p.K15E) - chr15_005103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 1 c.45G>T likely pathogenic r.(?) p.(Lys15Asn) g.63335073G>T - G3244T - TPM1_000023 segregates (3) PubMed: Hershberger 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.61C>G pathogenic r.(?) p.(Arg21Gly) g.63335089C>G - 61G>C (Arg21His) - TPM1_000031 reported variant description not possible; not in 192 control chromosomes PubMed: Fokstuen 2011 - - Germline - 1/122 cases - - - Johan den Dunnen
+?/. 1 - c.64G>A likely pathogenic r.(?) p.(Ala22Thr) g.63335092G>A - TPM1(NM_001018004.2):c.64G>A (p.A22T) - TPM1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 1 c.67G>C likely pathogenic r.(?) p.(Glu23Gln) g.63335095G>C - G3266C - TPM1_000024 - PubMed: Hershberger 2010 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.82G>A VUS r.(?) p.(Asp28Asn) g.63335110G>A - TPM1(NM_001018004.1):c.82G>A (p.D28N) - TPM1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.97G>A VUS r.(?) p.(Glu33Lys) g.63335125G>A - TPM1(NM_001018004.2):c.97G>A (p.E33K) - TPM1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.105G>C - r.(?) p.(Arg35Ser) g.63335133G>C g.63042934G>C - - TPM1_000046 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
+/. 1 1 c.109A>G pathogenic (dominant) r.(?) p.(Lys37Glu) g.63335137A>G - - - TPM1_000028 not in 400 control chromosomes PubMed: Chang 2011 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.114+14C>T benign, likely benign r.(=) p.(=) g.63335156C>T - 1 more item - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
-/. 1 - c.114+91G>A benign r.(=) p.(=) g.63335233G>A - - - TPM1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ?/. 3 - c.115-319C>G benign, VUS r.(=) p.(=) g.63335907C>G - 1 more item - TPM1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_AMC
-/., -?/. 4 - c.115-316G>A benign, likely benign r.(=) p.(=) g.63335910G>A - 1 more item - TPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.115-288C>G likely benign r.(=) p.(=) g.63335938C>G - - - TPM1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.115-278C>T VUS r.(=) p.(=) g.63335948C>T - TPM1(NM_001018020.1):c.158C>T (p.S53L) - TPM1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.115-277G>A likely benign, benign r.(=) p.(=) g.63335949G>A - TPM1(NM_001018007.2):c.159G>A (p.S53=) - TPM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.115-262C>T benign r.(=) p.(=) g.63335964C>T - TPM1(NM_001018007.2):c.174C>T (p.D58=) - TPM1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.115-235G>A benign r.(=) p.(=) g.63335991G>A - TPM1(NM_001018007.2):c.201G>A (p.A67=) - TPM1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.115-233A>T VUS r.(=) p.(=) g.63335993A>T - - - TPM1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.115-207G>A likely benign r.(=) p.(=) g.63336019G>A - - - TPM1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.115-189G>T benign r.(=) p.(=) g.63336037G>T - TPM1(NM_001018004.2):c.115-189G>T - TPM1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.115-184G>A benign r.(=) p.(=) g.63336042G>A - TPM1(NM_001018004.2):c.115-184G>A - TPM1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.115-32del benign r.(=) p.(=) g.63336194del - TPM1(NM_001018005.1):c.115-32delC - TPM1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.115-14T>A VUS r.(=) p.(=) g.63336212T>A - TPM1(NM_001018004.1):c.115-14T>A - TPM1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.118G>A pathogenic r.(?) p.(Glu40Lys) g.63336229G>A - - - TPM1_000001 - PubMed: Olson, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.120A>G likely benign r.(?) p.(=) g.63336231A>G - - - TPM1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.160G>A pathogenic r.(?) p.(Glu54Lys) g.63336271G>A - - - TPM1_000002 - PubMed: Olson, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.169C>G VUS r.(?) p.(Leu57Val) g.63336280C>G - TPM1(NM_001018004.1):c.169C>G (p.L57V) - TPM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.172G>C pathogenic r.(?) p.(Asp58His) g.63336283G>C - - - TPM1_000003 not in 400 control chromosomes PubMed: Frisso 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.177A>G benign r.(?) p.(=) g.63336288A>G - TPM1(NM_001018004.2):c.177A>G (p.K59=) - TPM1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 4 - c.180C>T benign, likely benign r.(?) p.(=) g.63336291C>T - 1 more item - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
+/. 5 2 c.184G>C pathogenic r.(?) p.(Glu62Gln) g.63336295G>C - 1 more item - TPM1_000004 VKGL data sharing initiative Nederland, 1 more item PubMed: Jongbloed - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 2 c.188C>T pathogenic r.(?) p.(Ala63Val) g.63336299C>T - - - TPM1_000005 neutral charge substitution PubMed: NakajimaTaniguchi, PubMed: YamauchiTakihara - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.209A>C pathogenic r.(?) p.(Lys70Thr) g.63336320A>C - - - TPM1_000006 net charge substitution +1 to 0 PubMed: YamauchiTakihara, PubMed: Heller - - Germline - - - - - Johan den Dunnen
?/. 1 - c.235A>G VUS r.(?) p.(Thr79Ala) g.63336346A>G - TPM1(NM_001018005.1):c.235A>G (p.T79A) - TPM1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.240+21C>T benign r.(=) p.(=) g.63336372C>T - TPM1(NM_001018005.1):c.240+21C>T - TPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/., -/. 2 - c.240+4296A>G VUS, benign r.(=) p.(=) g.63340647A>G - TPM1(NM_001018008.1):c.-128A>G - TPM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.240+4354C>T benign r.(=) p.(=) g.63340705C>T - TPM1(NM_001018008.1):c.-70C>T - TPM1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.240+4424A>T VUS r.(=) p.(=) g.63340775A>T - TPM1(NM_001301289.1):c.1A>T (p.M1?) - TPM1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.240+4449C>T VUS r.(=) p.(=) g.63340800C>T - - - TPM1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.240+4465C>G likely benign r.(=) p.(=) g.63340816C>G - TPM1(NM_001018008.1):c.42C>G (p.I14M) - TPM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 2i c.240+4470G>T pathogenic r.(?) p.(Ser81-29Ile) g.63340821G>T - G8992T (Ser16Ile) - TPM1_000025 - PubMed: Hershberger 2010 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.240+4498G>T VUS r.(=) p.(=) g.63340849G>T - TPM1(NM_001301289.1):c.75G>T (p.E25D) - TPM1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.240+4505_240+4506delinsTT likely benign r.(=) p.(=) g.63340856_63340857delinsTT - - - chr15_005104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.240+4506C>T likely benign r.(=) p.(=) g.63340857C>T - - - chr15_005105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.240+4512C>T VUS r.(=) p.(=) g.63340863C>T - TPM1(NM_001301289.1):c.89C>T (p.T30I) - TPM1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.240+4534C>T VUS, likely benign r.(=) p.(=) g.63340885C>T - TPM1(NM_001018008.1):c.111C>T (p.H37=) - TPM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.240+4544C>A likely benign r.(=) p.(=) g.63340895C>A - TPM1(NM_001018008.1):c.121C>A (p.L41M) - TPM1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.240+4572T>A benign r.(=) p.(=) g.63340923T>A - TPM1(NM_001018004.2):c.240+4572T>A - TPM1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.241-88G>A benign r.(=) p.(=) g.63349096G>A - - - TPM1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.241-52T>A benign r.(=) p.(=) g.63349132T>A - - - TPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.241-19C>G benign r.(=) p.(=) g.63349165C>G - TPM1(NM_001018004.2):c.241-19C>G - TPM1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2i c.241-12_241-11delinsTG pathogenic r.spl? p.? g.63349172_63349173delinsTG - - - TPM1_000021 - PubMed: Hoedemaekers 2010 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.241-8C>T benign, likely benign r.(=) p.(=) g.63349176C>T - TPM1(NM_001018004.1):c.241-8C>T, TPM1(NM_001018004.2):c.241-8C>T - TPM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
+?/., +/. 3 - c.250G>A likely pathogenic, pathogenic r.(?) p.(Asp84Asn) g.63349193G>A - TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N) - TPM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.251A>C - r.(?) p.(Asp84Ala) g.63349194A>C - - - TPM1_000084 - - - - Unknown - - - - - IMGAG
?/. 1 - c.253G>A VUS r.(?) p.(Val85Ile) g.63349196G>A - TPM1(NM_001365776.1):c.253G>A (p.V85I) - chr15_005355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.275T>C pathogenic r.(?) p.(Ile92Thr) g.63349218T>C - T17389C - TPM1_000022 segregates (2) PubMed: Hershberger 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.284T>C pathogenic r.(?) p.(Val95Ala) g.63349227T>C - - - TPM1_000007 VKGL data sharing initiative Nederland, neutral charge substitution; increased calcium affinity PubMed: Karibe, OMIM:var0003, PubMed: Morita 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.314G>A VUS r.(?) p.(Arg105His) g.63349257G>A - TPM1(NM_001330351.1):c.206G>A (p.R69H) - chr15_005106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.340G>C VUS r.(?) p.(Glu114Gln) g.63349283G>C - TPM1(NM_001330351.1):c.232G>C (p.E78Q) - TPM1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.374+65del benign r.(=) p.(=) g.63349382del - TPM1(NM_001018005.1):c.374+65delC - TPM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.375-75A>G benign r.(=) p.(=) g.63351687A>G - - - TPM1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/., ?/. 5 - c.375-5T>C likely benign, benign r.spl?, r.(?) p.?, p.(=) g.63351757T>C g.63059558T>C TPM1(NM_001018004.2):c.375-5T>C, TPM1(NM_001330351.1):c.267-5T>C - TPM1_000041 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013, PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs377061868 CLASSIFICATION record, Germline ? 1/223 cases HCM - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Johan den Dunnen, Cordula Haas, VKGL-NL_Utrecht
?/., -/. 3 - c.375-3C>T benign r.(?), r.spl? p.(=), p.? g.63351759C>T g.63059560C>T NM_001018020:c.375-3C>T, TPM1(NM_001018004.1):c.375-3C>T, TPM1(NM_001018004.2):c.375-3C>T - TPM1_000042 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline, CLASSIFICATION record - 1/223 cases HCM - - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Utrecht
?/. 1 4 c.403C>A VUS r.(?) p.(Gln135Lys) g.63351790C>A - - - TPM1_000017 - - - rs11558749 Germline - - - - - Johan den Dunnen
-/., -?/. 7 4 c.453C>A benign, likely benign r.(?) p.(=) g.63351840C>A - 664C>A (Ala151Ala), 1 more item - TPM1_000019 VKGL data sharing initiative Nederland PubMed: Sambuughin 2010, PubMed: Fokstuen 2011 - rs1071646 CLASSIFICATION record, Germline - 67/155 cases - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Nyamkhishig Sambuughin, Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.466G>A - r.(?) p.(Glu156Lys) g.63351853G>A g.63059654G>A G466A (E192K) - TPM1_000044 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/. 1 - c.475G>A pathogenic r.(?) p.(Asp159Asn) g.63351862G>A - TPM1(NM_001018004.1):c.475G>A (p.D159N) - TPM1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 4 c.479G>A pathogenic r.(?) p.(Arg160His) g.63351866G>A - TPM1(NM_000366.5):c.479G>A (p.R160H) - TPM1_000030 de novo, in patient, VKGL data sharing initiative Nederland PubMed: Hoedemaekers 2010 - - De novo, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
-/., -?/. 4 4 c.486T>C benign, likely benign r.(?) p.(=) g.63351873T>C - TPM1(NM_001018004.2):c.486T>C (p.Y162=), TPM1(NM_001018005.1):c.486T>C (p.Y162=) - TPM1_000020 VKGL data sharing initiative Nederland PubMed: Fokstuen 2011 - rs11558747 CLASSIFICATION record, Germline - 19/156 cases - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_AMC
-/. 1 - c.492+213G>A benign r.(=) p.(=) g.63352092G>A - - - TPM1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.492+261G>T benign r.(=) p.(=) g.63352140G>T - - - TPM1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.493-20G>A benign r.(=) p.(=) g.63353048G>A - TPM1(NM_001018004.2):c.493-20G>A - TPM1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.498C>T likely benign r.(?) p.(=) g.63353073C>T - TPM1(NM_001018004.1):c.498C>T (p.A166=) - TPM1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 5 c.515T>C pathogenic r.(?) p.(Ile172Thr) g.63353090T>C - - - TPM1_000008 neutral charge substitution PubMed: Van Driest 2003, PubMed: Van Driest - - Germline - - - - - Johan den Dunnen
+/. 18 5 c.523G>A pathogenic, pathogenic (dominant) r.(?) p.(Asp175Asn) g.63353098G>A - 579G>A, g.23261G>A, Asp175Asn, 1 more item - TPM1_000009 VKGL data sharing initiative Nederland, mapped by linkage analysis; not in >200 normal chromosomes, 1 more item PubMed: Thierfelder 1994, OMIM:var0002, PubMed: Bottinelli, PubMed: NakajimaTaniguchi, PubMed: Hedman, 10 more items - rs28934270 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 5 c.539A>G pathogenic (dominant), pathogenic r.(?) p.(Glu180Gly) g.63353114A>G - 595A>G - TPM1_000010 mapped by linkage analysis; not in >200 normal chromosomes PubMed: Thierfelder 1994, OMIM:var0001, PubMed: Prabhakar - rs28934269 Germline - - MnlI - - Johan den Dunnen
+/. 1 5 c.539A>T pathogenic r.(?) p.(Gu180Val) g.63353114A>T - - - TPM1_000011 net charge substitution 1 to 0; Ca2+ dependent troponin T binding domain PubMed: RegitzZagrosek - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.549T>C likely benign r.(?) p.(=) g.63353124T>C - - - TPM1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 5 c.549T>G benign r.(?) p.(=) g.63353124T>G - 605T>G - TPM1_000018 - PubMed: Thierfelder 1994 - - Germline - 1/200 - - - Johan den Dunnen
+/. 2 5 c.554T>G pathogenic r.(?) p.(Leu185Arg) g.63353129T>G - - - TPM1_000012 - PubMed: Van Driest 2002, PubMed: Van Driest 2003, PubMed: Earing 2003 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.562G>A VUS r.(?) p.(Gly188Ser) g.63353137G>A - TPM1(NM_001018004.2):c.562G>A (p.G188S) - TPM1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.563+266C>A VUS r.(=) p.(=) g.63353404C>A - - - TPM1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 5 - c.563+313A>G likely benign, benign r.(=) p.(=) g.63353451A>G - 1 more item - TPM1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.563+317A>G VUS r.(=) p.(=) g.63353455A>G - TPM1(NM_001018006.2):c.622A>G (p.M208V) - TPM1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.564-12C>G likely benign r.(=) p.(=) g.63353900C>G - TPM1(NM_001018004.2):c.564-12C>G - TPM1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.564-11G>A likely benign r.(=) p.(=) g.63353901G>A - TPM1(NM_001018004.1):c.564-11G>A - TPM1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 6 c.574G>A pathogenic r.(?) p.(Glu192Lys) g.63353922G>A - 765G>A - TPM1_000013 VKGL data sharing initiative Nederland PubMed: Morita 2002, PubMed: Probst 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.585A>C VUS r.(?) p.(Glu195Asp) g.63353933A>C - TPM1(NM_001018004.2):c.585A>C (p.E195D) - TPM1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.591G>A likely benign r.(?) p.(=) g.63353939G>A - TPM1(NM_001018004.1):c.591G>A (p.L197=) - TPM1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/. 1 - c.602C>T pathogenic r.(?) p.(Thr201Met) g.63353950C>T - TPM1(NM_001018004.1):c.602C>T (p.T201M) - TPM1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 - c.607A>G likely pathogenic r.(?) p.(Asn203Asp) g.63353955A>G - TPM1(NM_001018004.1):c.607A>G (p.N203D) - TPM1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.618A>G benign r.(?) p.(=) g.63353966A>G - TPM1(NM_001018004.2):c.618A>G (p.S206=) - TPM1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.635A>T VUS r.(?) p.(Glu212Val) g.63353983A>T - TPM1(NM_001018004.1):c.635A>T (p.E212V) - TPM1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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