Unique variants in gene MYH3

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

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

Reported     

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     
+?/. 1 - c.-9+1G>A r.spl? p.? - likely pathogenic g.10559406C>T g.10656089C>T - - MYH3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 3 - c.6T>C r.(=), r.(?) p.(=), p.(Ser2=) - likely benign, benign g.10558376A>G g.10655059A>G MYH3(NM_002470.3):c.6T>C (p.S2=) - MYH3_000065 143 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs17817203 Germline, CLASSIFICATION record - 143/2795 individuals, 3/2795 individuals - - - Mohammed Faruq, VKGL-NL_AMC
?/. 1 - c.38C>T r.(?) p.(Ala13Val) - VUS g.10558344G>A g.10655027G>A MYH3(NM_002470.3):c.38C>T (p.(Ala13Val)) - MYH3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.53G>A r.(?) p.(Arg18Gln) - VUS g.10558329C>T g.10655012C>T MYH3(NM_002470.3):c.53G>A (p.R18Q) - MYH3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.208C>T r.(?) p.(Leu70=) - benign g.10555877G>A g.10652560G>A MYH3(NM_002470.3):c.208C>T (p.L70=) - MYH3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.348+135C>T r.(=) p.(=) - benign g.10555602G>A g.10652285G>A MYH3(NM_002470.3):c.348+135C>T - MYH3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.349-7C>T r.(=) p.(=) - benign g.10554992G>A g.10651675G>A MYH3(NM_002470.3):c.349-7C>T - MYH3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.375T>C r.(?) p.(Thr125=) - likely benign g.10554959A>G g.10651642A>G MYH3(NM_002470.3):c.375T>C (p.T125=) - MYH3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.533C>T r.(?) p.(Thr178Ile) - pathogenic g.10553691G>A g.10650374G>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) - pathogenic g.10552985C>G g.10649668C>G - - MYH3_000087 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
-?/. 1 - 1 more item r.(?) p.(Thr202ProfsTer45) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.603_604ins98 (p.T202Pfs*45) - MYH3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203ProfsTer18) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins98 (p.G203Pfs*18) - MYH3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - 1 more item r.(?) p.(Gly203IlefsTer77) - benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins118 (p.G203Ifs*77) - MYH3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203HisfsTer25) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins119 (p.G203Hfs*25) - MYH3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) 1 more item - likely benign 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_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203ProfsTer78) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins121 (p.G203Pfs*78) - MYH3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203ProfsTer15) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins89 (p.G203Pfs*15) - MYH3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) 1 more item - likely benign 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_AMC
-?/. 1 - 1 more item r.(?) 1 more item - likely benign 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_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203SerfsTer23) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins113 (p.G203Sfs*23) - MYH3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - 1 more item r.(?) p.(Gly203SerfsTer22) - likely benign 1 more item 1 more item MYH3(NM_002470.3):c.605_606ins110 (p.G203Sfs*22) - MYH3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.605_606insGAGATCAAGCA r.(?) p.(Gly203ArgfsTer15) - likely benign g.10552930_10552931insTGCTTGATCTC g.10649613_10649614insTGCTTGATCTC MYH3(NM_002470.3):c.605_606insGAGATCAAGCA (p.G203Rfs*15) - MYH3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.643-16C>T r.(=) p.(=) - benign g.10551982G>A g.10648665G>A MYH3(NM_002470.3):c.643-16C>T - MYH3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.690C>G r.(?) p.(Ala230=) - benign, likely benign g.10551919G>C g.10648602G>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) - pathogenic g.10551909C>T g.10648592C>T - - MYH3_000086 - PubMed: Tajsharghi 2008, PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.720C>A r.(?) p.(Asp240Glu) - VUS g.10551889G>T - - - MYH3_000137 - PubMed: Pannone 2020, Journal: Pannone 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 - c.721_725delinsGACAA r.(?) p.(Asn241_Ser242delinsAspAsn) - likely pathogenic g.10551884_10551888delinsTTGTC g.10648567_10648571delinsTTGTC - - MYH3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.725C>G r.(?) p.(Ser242Cys) ACMG likely pathogenic (dominant) g.10551884G>C g.10648567G>C - - MYH3_000145 - Ravenscroft 2020, submitted - - De novo - - - - - Gianina Ravenscroft
+/., +?/. 4 8 c.727_729del r.(?) p.(Ser243del) - pathogenic, likely pathogenic g.10551884_10551886del g.10648567_10648569del - - MYH3_000005 VKGL data sharing initiative Nederland PubMed: Chong 2015, Journal: Chong 2015 - - Germline, CLASSIFICATION record yes - - - - Jamie Zeegers, VKGL-NL_Nijmegen
-?/. 2 - c.736-6A>G r.(=) p.(=) - likely benign g.10550749T>C g.10647432T>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) - pathogenic g.10550742C>G g.10647425C>G - - MYH3_000085 - PubMed: Beck 2013 - - De novo - - - - - Johan den Dunnen
+/. 1 9 c.782C>T r.(?) p.(Ser261Phe) - pathogenic g.10550697G>A g.10647380G>A - - MYH3_000084 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
?/. 2 11 c.998C>G r.(?) p.(Thr333Arg) - VUS g.10549250G>C g.10645933G>C - - MYH3_000001 - - - - De novo, Germline yes - - - - Raphael Carapito
+/. 1 12 c.1019T>A r.(?) p.(Leu340Gln) - pathogenic g.10549146A>T g.10645829A>T - - MYH3_000083 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1088T>C r.(?) p.(Met363Thr) - VUS g.10549077A>G g.10645760A>G MYH3(NM_002470.3):c.1088T>C (p.(Met363Thr)) - MYH3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1108C>T r.(?) p.(Arg370Ter) - pathogenic g.10549057G>A g.10645740G>A - - MYH3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +/. 3 12 c.1123G>A r.(?) p.(Glu375Lys) - likely pathogenic, pathogenic (dominant), pathogenic g.10549042C>T g.10645725C>T MYH3(NM_002470.3):c.1123G>A (p.(Glu375Lys)) - MYH3_000059 VKGL data sharing initiative Nederland PubMed: Todd 2015, PubMed: Toydemir 2006 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Johan den Dunnen
+/. 1 14 c.1309T>A r.(?) p.(Phe437Ile) - pathogenic g.10547769A>T g.10644452A>T - - MYH3_000082 - PubMed: Alvarado 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1385A>G r.(?) p.(Asp462Gly) - pathogenic g.10547693T>C g.10644376T>C - - MYH3_000081 - PubMed: Tajsharghi 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1397T>G r.(?) p.(Phe466Cys) - pathogenic g.10547681A>C g.10644364A>C - - MYH3_000080 - PubMed: Beck 2013 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1446C>T r.(?) p.(Thr482=) - likely benign g.10546278G>A g.10642961G>A MYH3(NM_002470.3):c.1446C>T (p.T482=) - MYH3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1485C>T r.(?) p.(Phe495=) - likely benign g.10546239G>A g.10642922G>A MYH3(NM_002470.3):c.1485C>T (p.F495=) - MYH3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1495C>G r.(?) p.(Gln499Glu) - likely pathogenic g.10546229G>C g.10642912G>C MYH3(NM_002470.3):c.1495C>G (p.Q499E) - MYH3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 15 c.1512G>T r.(?) p.(Lys504Asn) - pathogenic g.10546212C>A g.10642895C>A - - MYH3_000079 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1521C>T r.(?) p.(Ile507=) - benign g.10546203G>A g.10642886G>A MYH3(NM_002470.3):c.1521C>T (p.I507=) - MYH3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1539C>G r.(?) p.(Asp513Glu) ACMG VUS (!) g.10546185G>C g.10642868G>C [1539C>G;2036C>T;2113A>C] - MYH3_000140 variant allele present in proband, affected father and affected paternal uncle Ravenscroft 2020, submitted - - Germline yes - - - - Gianina Ravenscroft
+/. 1 15 c.1549G>T r.(?) p.(Asp517Tyr) - pathogenic g.10546175C>A g.10642858C>A - - MYH3_000078 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.1581+13A>C r.(=) p.(=) - benign g.10546130T>G g.10642813T>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 r.(?) p.(Ala584Gly) - VUS g.10545871G>C g.10642554G>C - - MYH3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1782G>T r.(?) p.(Trp594Cys) - VUS g.10545840C>A g.10642523C>A MYH3(NM_002470.3):c.1782G>T (p.W594C) - MYH3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1804C>G r.(?) p.(Leu602Val) - VUS g.10545818G>C g.10642501G>C - - MYH3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1880C>T r.(?) p.(Thr627Met) - VUS g.10545742G>A g.10642425G>A MYH3(NM_002470.3):c.1880C>T (p.T627M) - MYH3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1932C>T r.(?) p.(Ser644=) - benign g.10545584G>A g.10642267G>A MYH3(NM_002470.3):c.1932C>T (p.S644=) - MYH3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 4 - c.1960-8del r.(=) p.(=) - likely benign, benign g.10544706del g.10641389del 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
-?/., -/. 4 - c.1960-8dup r.(=) p.(=) - likely benign, benign g.10544706dup g.10641389dup 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_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1960-7C>T r.(=) p.(=) - likely benign g.10544696G>A g.10641379G>A MYH3(NM_002470.3):c.1960-7C>T (p.(=)) - MYH3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2014C>T r.(?) p.(Arg672Cys) ACMG pathogenic g.10544635G>A g.10641318G>A - - MYH3_000144 no variant 2nd chromosome Ravenscroft 2020, submitted - - Germline - - - - - Gianina Ravenscroft
+/. 3 - c.2015G>A r.(?) p.(Arg672His) - pathogenic, pathogenic (dominant) g.10544634C>T g.10641317C>T - - MYH3_000071 VKGL data sharing initiative Nederland PubMed: Todd 2015 - - Unknown, Germline, CLASSIFICATION record - - - - - IMGAG, Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.2036C>T r.(?) p.(Thr679Ile) - VUS (!) g.10544613G>A - [1539C>G;2036C>T;2113A>C] - MYH3_000139 variant allele present in proband, affected father and affected paternal uncle Ravenscroft 2020, submitted - - Germline yes - - - - Gianina Ravenscroft
-/. 2 - c.2106C>T r.(?) p.(Gly702=) - benign g.10544461G>A g.10641144G>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
?/. 1 - c.2113A>C r.(?) p.(Ile705Leu) - VUS (!) g.10544454T>G - [1539C>G;2036C>T;2113A>C] - MYH3_000138 [1539C>G;2036C>T;2113A>C] Ravenscroft 2020, submitted - - Germline yes - - - - Gianina Ravenscroft
-/. 3 - c.2151C>A r.(?) p.(Gly717=) - benign g.10544416G>T g.10641099G>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 r.(=) p.(=) - benign g.10544018T>C g.10640701T>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 r.spl? p.? - likely benign g.10543876T>C g.10640559T>C MYH3(NM_002470.3):c.2289+4A>G - MYH3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2289+20A>G r.(=) p.(=) - likely benign g.10543860T>C g.10640543T>C MYH3(NM_002470.3):c.2289+20A>G - MYH3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 21 c.2306G>T r.(?) p.(Gly769Val) - pathogenic g.10543770C>A g.10640453C>A - - MYH3_000077 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2417T>A r.(?) p.(Val806Glu) - VUS g.10543659A>T g.10640342A>T MYH3(NM_002470.3):c.2417T>A (p.V806E) - MYH3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2474T>G r.(?) p.(Val825Gly) ACMG likely pathogenic g.10543521A>C g.10640204A>C - - MYH3_000143 no variant 2nd chromosome Ravenscroft 2020, submitted - - Germline - - - - - Gianina Ravenscroft
+/. 1 - c.2490G>T r.(?) p.(Trp830Cys) - pathogenic g.10543505C>A g.10640188C>A - - MYH3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 22 c.2503_2505del r.(?) p.(Phe835del) - pathogenic g.10543495_10543497del g.10640178_10640180del 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) - pathogenic g.10543483T>C g.10640166T>C - - MYH3_000075 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 22 c.2521_2523del r.(?) p.(Leu841del) - pathogenic g.10543476_10543478del g.10640159_10640161del 2521_2523delCTC - MYH3_000074 - PubMed: Toydemir 2006 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.2532A>G r.(?) p.(Ala844=) - benign g.10543463T>C g.10640146T>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
-?/. 1 - c.2538T>A r.(?) p.(Thr846=) - likely benign g.10543457A>T g.10640140A>T MYH3(NM_002470.3):c.2538T>A (p.T846=) - MYH3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2610A>G r.(?) p.(Lys870=) - benign g.10543385T>C g.10640068T>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 r.(=) p.(=) - benign g.10543294_10543295del g.10639977_10639978del MYH3(NM_002470.3):c.2682+30_2682+31delTT - MYH3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2683-14C>T r.(=) p.(=) - likely benign g.10543133G>A g.10639816G>A - - MYH3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2683-4del r.spl? p.? - benign g.10543132del g.10639815del MYH3(NM_002470.3):c.2683-4delT - MYH3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.2683-4dup r.spl? p.? - benign g.10543132dup g.10639815dup 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 r.(?) p.(Thr961=) - benign g.10542919G>T g.10639602G>T MYH3(NM_002470.3):c.2883C>A (p.T961=) - MYH3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.2916A>G r.(?) p.(Thr972=) - benign g.10542886T>C g.10639569T>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 r.(=) p.(=) - benign g.10542803T>C g.10639486T>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 r.(=) p.(=) - likely benign g.10542799G>A g.10639482G>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 r.(?) p.(Ser984=) - benign g.10542765A>G g.10639448A>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
?/. 1 - c.2992A>G r.(?) p.(Lys998Glu) - - g.10542725T>C - MYH3(NM_002470.3):c.2992A>G (p.K998E) - MYH3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2993A>C r.(?) p.(Lys998Thr) - - g.10542724T>G - MYH3(NM_002470.3):c.2993A>C (p.K998T) - MYH3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 4 - c.3008C>T r.(?) p.(Ala1003Val) - likely benign, benign g.10542709G>A g.10639392G>A MYH3(NM_002470.3):c.3008C>T (p.A1003V, p.(Ala1003Val)) - MYH3_000037 144 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs34088014 Germline, CLASSIFICATION record - 144/2795 individuals, 3/2795 individuals - - - Mohammed Faruq, VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.3009G>A r.(=) p.(=) - likely benign g.10542708C>T g.10639391C>T - - MYH3_000132 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61735353 Germline - 6/2787 individuals - - - Mohammed Faruq
-/., -?/. 2 - c.3078C>T r.(?) p.(Ser1026=) - benign, likely benign g.10542639G>A g.10639322G>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 r.(?) p.(Asp1034=) - likely benign g.10542615G>A g.10639298G>A MYH3(NM_002470.3):c.3102C>T (p.D1034=) - MYH3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3137G>A r.(?) p.(Arg1046Gln) - VUS g.10542472C>T g.10639155C>T MYH3(NM_002470.3):c.3137G>A (p.(Arg1046Gln)) - MYH3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.3138A>C r.(?) p.(Arg1046=) - benign g.10542471T>G g.10639154T>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) - pathogenic 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) - pathogenic g.10542385T>G g.10639068T>G - - MYH3_000003 - PubMed: Chong 2015, Journal: Chong 2015 - - Germline yes - - - - Jamie Zeegers
+?/. 1 - c.3284T>C r.(?) p.(Val1095Ala) - likely pathogenic g.10542245A>G g.10638928A>G - - MYH3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.3348T>C r.(?) p.(Ile1116=) - benign g.10541741A>G g.10638424A>G MYH3(NM_002470.3):c.3348T>C (p.I1116=) - MYH3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 2 - c.3409C>T r.(?) p.(Arg1137Cys) - likely benign, benign g.10541680G>A g.10638363G>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 r.(?) p.(Glu1143Asp) - VUS g.10541660C>A g.10638343C>A MYH3(NM_002470.3):c.3429G>T (p.(Glu1143Asp)) - MYH3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3445G>C r.(?) p.(Glu1149Gln) - VUS g.10541644C>G g.10638327C>G MYH3(NM_002470.3):c.3445G>C (p.E1149Q) - MYH3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3534C>A r.(?) p.(Asp1178Glu) - VUS g.10541555G>T g.10638238G>T MYH3(NM_002470.3):c.3534C>A (p.D1178E) - MYH3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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