Unique variants in gene MYH3

Information The variants shown are described using the NM_002470.3 transcript reference sequence.

115 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.-9+1G>A likely pathogenic r.spl? p.? g.10559406C>T - - - MYH3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.6T>C benign r.(?) p.(=) g.10558376A>G - MYH3(NM_002470.3):c.6T>C (p.S2=) - MYH3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.38C>T VUS r.(?) p.(Ala13Val) g.10558344G>A - MYH3(NM_002470.3):c.38C>T (p.(Ala13Val)) - MYH3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.53G>A VUS r.(?) p.(Arg18Gln) g.10558329C>T - MYH3(NM_002470.3):c.53G>A (p.R18Q) - MYH3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.208C>T benign r.(?) p.(=) g.10555877G>A - MYH3(NM_002470.3):c.208C>T (p.L70=) - MYH3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.348+135C>T benign r.(=) p.(=) g.10555602G>A - MYH3(NM_002470.3):c.348+135C>T - MYH3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.349-7C>T benign r.(=) p.(=) g.10554992G>A - MYH3(NM_002470.3):c.349-7C>T - MYH3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.375T>C likely benign r.(?) p.(=) g.10554959A>G - MYH3(NM_002470.3):c.375T>C (p.T125=) - MYH3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.533C>T pathogenic r.(?) p.(Thr178Ile) g.10553691G>A - MYH3(NM_002470.3):c.533C>T (p.T178I) - MYH3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 2 7 c.551G>C - r.(?) p.(Gly184Ala) g.10552985C>G - - - MYH3_000087 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
-?/. 1 - 1 more item likely benign r.(?) p.(Thr202Profs*45) 1 more item - MYH3(NM_002470.3):c.603_604ins98 (p.T202Pfs*45) - MYH3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) p.(Gly203Profs*18) 1 more item - MYH3(NM_002470.3):c.605_606ins98 (p.G203Pfs*18) - MYH3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - 1 more item benign r.(?) p.(Gly203Ilefs*77) 1 more item - MYH3(NM_002470.3):c.605_606ins118 (p.G203Ifs*77) - MYH3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) 1 more item 1 more item - MYH3(NM_002470.3):c.605_606ins120 (p.T202_G203ins40) - MYH3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) p.(Gly203Profs*78) 1 more item - MYH3(NM_002470.3):c.605_606ins121 (p.G203Pfs*78) - MYH3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) p.(Gly203Profs*15) 1 more item - MYH3(NM_002470.3):c.605_606ins89 (p.G203Pfs*15) - MYH3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) 1 more item 1 more item - MYH3(NM_002470.3):c.605_606ins114 (p.T202_G203ins38) - MYH3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) 1 more item 1 more item - MYH3(NM_002470.3):c.605_606ins96 (p.T202_G203ins32) - MYH3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) p.(Gly203Serfs*23) 1 more item - MYH3(NM_002470.3):c.605_606ins113 (p.G203Sfs*23) - MYH3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - 1 more item likely benign r.(?) p.(Gly203Serfs*22) 1 more item - MYH3(NM_002470.3):c.605_606ins110 (p.G203Sfs*22) - MYH3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.605_606insGAGATCAAGCA likely benign r.(?) p.(Gly203Argfs*15) g.10552930_10552931insTGCTTGATCTC - MYH3(NM_002470.3):c.605_606insGAGATCAAGCA (p.G203Rfs*15) - MYH3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.643-16C>T benign r.(=) p.(=) g.10551982G>A - MYH3(NM_002470.3):c.643-16C>T - MYH3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.690C>G benign, likely benign r.(?) p.(=) g.10551919G>C - MYH3(NM_002470.3):c.690C>G (p.A230=) - MYH3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 2 8 c.700G>A - r.(?) p.(Ala234Thr) g.10551909C>T - - - MYH3_000086 - PubMed: Tajsharghi 2008, PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.721_725delinsGACAA likely pathogenic r.(?) p.(Asn241_Ser242delinsAspAsn) g.10551884_10551888delinsTTGTC - - - MYH3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 4 8 c.727_729del likely pathogenic r.(?) p.(Ser243del) g.10551880_10551882del, g.10551884_10551886del g.10648563_10648565del - - MYH3_000005 VKGL data sharing initiative Nederland PubMed: Chong 2015, Journal: Chong 2015 - - Germline, CLASSIFICATION record yes - - - - Jamie Zeegers, VKGL-NL
-?/. 2 - c.736-6A>G likely benign r.(=) p.(=) g.10550749T>C - MYH3(NM_002470.3):c.736-6A>G - MYH3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 9 c.737G>C - r.(?) p.(Gly246Ala) g.10550742C>G - - - MYH3_000085 - PubMed: Beck 2013 - - De novo - - - - - Johan den Dunnen
+/. 1 9 c.782C>T - r.(?) p.(Ser261Phe) g.10550697G>A - - - MYH3_000084 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
?/. 2 11 c.998C>G - r.(?) p.(Thr333Arg) g.10549250G>C g.10645933G>C - - MYH3_000001 - - - - De novo, Germline yes - - - - Raphael Carapito
+/. 1 12 c.1019T>A - r.(?) p.(Leu340Gln) g.10549146A>T - - - MYH3_000083 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1088T>C VUS r.(?) p.(Met363Thr) g.10549077A>G - MYH3(NM_002470.3):c.1088T>C (p.(Met363Thr)) - MYH3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1108C>T pathogenic r.(?) p.(Arg370*) g.10549057G>A - - - MYH3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 12 c.1123G>A pathogenic (dominant) r.(?) p.(Glu375Lys) g.10549042C>T - - - MYH3_000059 - PubMed: Todd 2015, PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1309T>A - r.(?) p.(Phe437Ile) g.10547769A>T - - - MYH3_000082 - PubMed: Alvarado 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1385A>G - r.(?) p.(Asp462Gly) g.10547693T>C - - - MYH3_000081 - PubMed: Tajsharghi 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1397T>G - r.(?) p.(Phe466Cys) g.10547681A>C - - - MYH3_000080 - PubMed: Beck 2013 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1446C>T likely benign r.(?) p.(=) g.10546278G>A - MYH3(NM_002470.3):c.1446C>T (p.T482=) - MYH3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1495C>G likely pathogenic r.(?) p.(Gln499Glu) g.10546229G>C - MYH3(NM_002470.3):c.1495C>G (p.Q499E) - MYH3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 15 c.1512G>T - r.(?) p.(Lys504Asn) g.10546212C>A - - - MYH3_000079 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1521C>T benign r.(?) p.(=) g.10546203G>A - MYH3(NM_002470.3):c.1521C>T (p.I507=) - MYH3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 15 c.1549G>T - r.(?) p.(Asp517Tyr) g.10546175C>A - - - MYH3_000078 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.1581+13A>C benign r.(=) p.(=) g.10546130T>G - MYH3(NM_002470.3):c.1581+13A>C - MYH3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.1751C>G VUS r.(?) p.(Ala584Gly) g.10545871G>C - - - MYH3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1782G>T VUS r.(?) p.(Trp594Cys) g.10545840C>A - MYH3(NM_002470.3):c.1782G>T (p.W594C) - MYH3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1804C>G VUS r.(?) p.(Leu602Val) g.10545818G>C - - - MYH3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1880C>T VUS r.(?) p.(Thr627Met) g.10545742G>A - MYH3(NM_002470.3):c.1880C>T (p.T627M) - MYH3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1932C>T benign r.(?) p.(=) g.10545584G>A - MYH3(NM_002470.3):c.1932C>T (p.S644=) - MYH3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 4 - c.1960-8del likely benign, benign r.(=) p.(=) g.10544706del - MYH3(NM_002470.3):c.1960-8delT - MYH3_000051, MYH3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/., -/. 3 - c.1960-8dup likely benign, benign r.(=) p.(=) g.10544706dup - MYH3(NM_002470.3):c.1960-8dupT, MYH3(NM_002470.3):c.1960-8dupT (p.(=)) - MYH3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 1 - c.1960-7C>T likely benign r.(=) p.(=) g.10544696G>A - MYH3(NM_002470.3):c.1960-7C>T (p.(=)) - MYH3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 - c.2015G>A pathogenic (dominant), pathogenic r.(?) p.(Arg672His) g.10544634C>T - - - MYH3_000071 VKGL data sharing initiative Nederland PubMed: Todd 2015 - - Unknown, Germline, CLASSIFICATION record - - - - - IMGAG, Johan den Dunnen, VKGL-NL
-/. 2 - c.2106C>T benign r.(?) p.(=) g.10544461G>A - MYH3(NM_002470.3):c.2106C>T (p.G702=) - MYH3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 3 - c.2151C>A benign r.(?) p.(=) g.10544416G>T - MYH3(NM_002470.3):c.2151C>A (p.G717=) - MYH3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 3 - c.2166-15A>G benign r.(=) p.(=) g.10544018T>C - MYH3(NM_002470.3):c.2166-15A>G - MYH3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.2289+4A>G likely benign r.spl? p.? g.10543876T>C - MYH3(NM_002470.3):c.2289+4A>G - MYH3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 21 c.2306G>T - r.(?) p.(Gly769Val) g.10543770C>A - - - MYH3_000077 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2417T>A VUS r.(?) p.(Val806Glu) g.10543659A>T - MYH3(NM_002470.3):c.2417T>A (p.V806E) - MYH3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2490G>T pathogenic r.(?) p.(Trp830Cys) g.10543505C>A - - - MYH3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 22 c.2503_2505del - r.(?) p.(Phe835del) g.10543490_10543492del - 2503_2505delTTC - MYH3_000076 de novo in one generation, inherited next PubMed: Beck 2013 - - De novo - - - - - Johan den Dunnen
+/. 1 22 c.2512A>G - r.(?) p.(Lys838Glu) g.10543483T>C - - - MYH3_000075 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 22 c.2521_2523del - r.(?) p.(Leu841del) g.10543472_10543474del - 2521_2523delCTC - MYH3_000074 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.2532A>G benign r.(?) p.(=) g.10543463T>C - MYH3(NM_002470.3):c.2532A>G (p.A844=) - MYH3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 2 - c.2610A>G benign r.(?) p.(=) g.10543385T>C - MYH3(NM_002470.3):c.2610A>G (p.K870=) - MYH3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-/. 1 - c.2682+30_2682+31del benign r.(=) p.(=) g.10543294_10543295del - MYH3(NM_002470.3):c.2682+30_2682+31delTT - MYH3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2683-14C>T likely benign r.(=) p.(=) g.10543133G>A - - - MYH3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2683-4del benign r.spl? p.? g.10543132del - MYH3(NM_002470.3):c.2683-4delT - MYH3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2683-4dup benign r.spl? p.? g.10543132dup - MYH3(NM_002470.3):c.2683-4dupT - MYH3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.2883C>A benign r.(?) p.(=) g.10542919G>T - MYH3(NM_002470.3):c.2883C>A (p.T961=) - MYH3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.2916A>G benign r.(?) p.(=) g.10542886T>C - MYH3(NM_002470.3):c.2916A>G (p.T972=) - MYH3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 3 - c.2926-12A>G benign r.(=) p.(=) g.10542803T>C - MYH3(NM_002470.3):c.2926-12A>G - MYH3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 2 - c.2926-8C>T likely benign r.(=) p.(=) g.10542799G>A - MYH3(NM_002470.3):c.2926-8C>T (, p.(=)) - MYH3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 3 - c.2952T>C benign r.(?) p.(=) g.10542765A>G - MYH3(NM_002470.3):c.2952T>C (p.S984=) - MYH3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., -/. 2 - c.3008C>T likely benign, benign r.(?) p.(Ala1003Val) g.10542709G>A - MYH3(NM_002470.3):c.3008C>T (p.A1003V, p.(Ala1003Val)) - MYH3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/., -?/. 2 - c.3078C>T benign, likely benign r.(?) p.(=) g.10542639G>A - MYH3(NM_002470.3):c.3078C>T (p.S1026=) - MYH3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.3102C>T likely benign r.(?) p.(=) g.10542615G>A - MYH3(NM_002470.3):c.3102C>T (p.D1034=) - MYH3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3137G>A VUS r.(?) p.(Arg1046Gln) g.10542472C>T - MYH3(NM_002470.3):c.3137G>A (p.(Arg1046Gln)) - MYH3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.3138A>C benign r.(?) p.(=) g.10542471T>G - MYH3(NM_002470.3):c.3138A>C (p.R1046=) - MYH3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
+/. 3 25 c.3214_3216dup - r.(?) p.(Asn1072dup) g.10542393_10542395dup g.10639076_10639078dup - - MYH3_000004 - PubMed: Chong 2015, Journal: Chong 2015 - - Germline yes - - - - Jamie Zeegers
+/. 2 25 c.3224A>C - r.(?) p.(Gln1075Pro) g.10542385T>G g.10639068T>G - - MYH3_000003 - PubMed: Chong 2015, Journal: Chong 2015 - - Germline yes - - - - Jamie Zeegers
+?/. 1 - c.3284T>C likely pathogenic r.(?) p.(Val1095Ala) g.10542245A>G - - - MYH3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3348T>C benign r.(?) p.(=) g.10541741A>G - MYH3(NM_002470.3):c.3348T>C (p.I1116=) - MYH3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.3409C>T likely benign, benign r.(?) p.(Arg1137Cys) g.10541680G>A - MYH3(NM_002470.3):c.3409C>T (p.R1137C) - MYH3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.3429G>T VUS r.(?) p.(Glu1143Asp) g.10541660C>A - MYH3(NM_002470.3):c.3429G>T (p.(Glu1143Asp)) - MYH3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3445G>C VUS r.(?) p.(Glu1149Gln) g.10541644C>G - MYH3(NM_002470.3):c.3445G>C (p.E1149Q) - MYH3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3534C>A VUS r.(?) p.(Asp1178Glu) g.10541555G>T - MYH3(NM_002470.3):c.3534C>A (p.D1178E) - MYH3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.3574G>A benign r.(?) p.(Ala1192Thr) g.10541515C>T - MYH3(NM_002470.3):c.3574G>A (p.A1192T) - MYH3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/., -?/. 3 - c.3592G>A benign, likely benign r.(?) p.(Ala1198Thr) g.10541497C>T - MYH3(NM_002470.3):c.3592G>A (p.A1198T) - MYH3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.3687C>G VUS r.(?) p.(Ile1229Met) g.10541402G>C - MYH3(NM_002470.3):c.3687C>G (p.I1229M) - MYH3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3701G>A VUS r.(?) p.(Ser1234Asn) g.10541388C>T - - - MYH3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3716del likely benign r.(?) p.(Val1239Glyfs*19) g.10541373del - MYH3(NM_002470.3):c.3716delT (p.(Val1239GlyfsTer19)) - MYH3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3729+9C>T likely benign r.(=) p.(=) g.10541351G>A - MYH3(NM_002470.3):c.3729+9C>T - MYH3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.3731C>T likely benign r.(?) p.(Ala1244Val) g.10541251G>A - MYH3(NM_002470.3):c.3731C>T (p.A1244V, p.(Ala1244Val)) - MYH3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 2 - c.3938C>T benign r.(?) p.(Thr1313Ile) g.10539089G>A - MYH3(NM_002470.3):c.3938C>T (p.T1313I) - MYH3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.3993G>A benign r.(?) p.(=) g.10538863C>T - MYH3(NM_002470.3):c.3993G>A (p.A1331=) - MYH3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 30 c.4031T>C - r.(?) p.(Leu1344Pro) g.10538825A>G g.10635508A>G - - MYH3_000002 - - - - Unknown, Germline yes - - - - Raphael Carapito
?/. 1 - c.4082C>T VUS r.(?) p.(Ala1361Val) g.10538774G>A - MYH3(NM_002470.3):c.4082C>T (p.A1361V) - MYH3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4109C>T VUS r.(?) p.(Ala1370Val) g.10538747G>A - MYH3(NM_002470.3):c.4109C>T (p.A1370V) - MYH3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.4155A>G benign r.(?) p.(=) g.10538701T>C - MYH3(NM_002470.3):c.4155A>G (p.E1385=) - MYH3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.4321G>A VUS r.(?) p.(Ala1441Thr) g.10538192C>T - MYH3(NM_002470.3):c.4321G>A (p.(Ala1441Thr)) - MYH3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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