Unique variants in gene MYH7

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000257.2 transcript reference sequence.

979 entries on 10 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.-36C>T r.(?) p.(=) - likely benign g.23903430G>A g.23434221G>A - - MYH7_001022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8-104T>C r.(=) p.(=) - likely benign g.23903053A>G g.23433844A>G - - MYH7_001021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.-8-25G>T r.(=) p.(=) - benign g.23902974C>A g.23433765C>A MYH7(NM_000257.2):c.-8-25G>T - MYH7_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 3 c.8A>C r.(?) p.(Asp3Ala) - benign g.23902934T>G g.23433725T>G 5728A>C - MYH7_000370 - - - rs3729993 Germline - - - - - Johan den Dunnen
?/., +/. 2 3 c.11C>T r.(?) p.(Ser4Leu) - VUS, pathogenic g.23902931G>A g.23433722G>A MYH7(NM_000257.2):c.11C>T (p.S4L) - MYH7_000043 VKGL data sharing initiative Nederland PubMed: Garci≠a-Castro 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen
-/. 1 - c.12G>A r.(?) p.(Ser4=) - benign g.23902930C>T g.23433721C>T MYH7(NM_000257.2):c.12G>A (p.S4=) - MYH7_001047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 3 c.29_31del r.(?) p.(Gly10del) - pathogenic g.23902912_23902914del g.23433703_23433705del 29_31delGGG - MYH7_000047 - PubMed: Nakajima-Taniguchi 1995 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.37G>A r.(?) p.(Ala13Thr) - pathogenic g.23902905C>T g.23433696C>T - - MYH7_000045 - PubMed: Seleznev 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.49C>T r.(?) p.(Arg17Cys) - VUS g.23902893G>A g.23433684G>A MYH7(NM_000257.2):c.49C>T (p.R17C) - MYH7_000785 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 2 c.50G>A r.(?) p.(Arg17His) ACMG VUS g.23902892C>T g.23433683C>T NM_000257:c.G50A - MYH7_000381 - PubMed: Lopes 2013, Journal: Lopes 2013 - rs727503280 Germline - 1/223 cases HCM - - - Andreas Laner, Johan den Dunnen
?/. 1 - c.58G>A r.(?) p.(Glu20Lys) - VUS g.23902884C>T g.23433675C>T MYH7(NM_000257.2):c.58G>A (p.E20K) - MYH7_001020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.67C>T r.(?) p.(Arg23Trp) - VUS g.23902875G>A g.23433666G>A MYH7(NM_000257.2):c.67C>T (p.R23W) - MYH7_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/., +/., +?/. 8 3 c.77C>T r.(?) p.(Ala26Val) - likely benign, VUS, pathogenic, likely pathogenic g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V), X52889.1:4470C>T, A26V - MYH7_000046 VKGL data sharing initiative Nederland PubMed: Song 2005, PubMed: Wang 2008, Koyanagi Circulation 1996 94:I110, PubMed: Matsushita 2007 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Peikuan Cong
?/. 1 - c.97C>G r.(?) p.(Leu33Val) - VUS g.23902845G>C g.23433636G>C MYH7(NM_000257.2):c.97C>G (p.L33V) - MYH7_001074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., +/. 3 3 c.115G>A r.(?) p.(Val39Met) - VUS, pathogenic g.23902827C>T g.23433618C>T MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland PubMed: Richard 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen, VKGL-NL_Nijmegen
?/. 2 - c.121G>A r.(?) p.(Asp41Asn) - VUS g.23902821C>T g.23433612C>T MYH7(NM_000257.2):c.121G>A (p.D41N) - MYH7_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.153C>T r.(?) p.(Ile51=) - likely benign g.23902789G>A g.23433580G>A MYH7(NM_000257.2):c.153C>T (p.I51=) - MYH7_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 3 c.160C>T r.(?) p.(Arg54*) - benign g.23902782G>A g.23433573G>A X52889.1:4553C>T - MYH7_000818 not inherited affected parent PubMed: Nishi 1995 - - Germline no - - - - Johan den Dunnen
?/. 1 - c.161G>A r.(?) p.(Arg54Gln) - VUS g.23902781C>T g.23433572C>T MYH7(NM_000257.2):c.161G>A (p.R54Q) - MYH7_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 2 c.161G>T r.(?) p.(Arg54Leu) - likely pathogenic g.23902781C>A g.23433572C>A - - MYH7_000403 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - - - - - Domenico Coviello
+?/. 1 - c.173A>G r.(?) p.(Lys58Arg) - likely pathogenic g.23902769T>C g.23433560T>C - - MYH7_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.175G>A r.(?) p.(Val59Ile) - pathogenic g.23902767C>T g.23433558C>T X52889.1:4568G>A - MYH7_000354 - Harada Circulation 1992 86:I591 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.185A>G r.(?) p.(Glu62Gly) - VUS g.23902757T>C g.23433548T>C MYH7(NM_000257.2):c.185A>G (p.E62G) - MYH7_000779 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 5 - c.189C>T r.(?) p.(Thr63=) - benign g.23902753G>A g.23433544G>A MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 3 - c.201+8T>A r.(=) p.(=) - likely benign g.23902733A>T g.23433524A>T MYH7(NM_000257.2):c.201+8T>A - MYH7_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.201+121T>C r.(=) p.(=) - benign g.23902620A>G g.23433411A>G - - MYH7_001019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.202-26G>A r.(=) p.(=) - likely benign g.23902462C>T g.23433253C>T - - MYH7_001018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.202-8_202-7insG r.(=) p.(=) - likely benign g.23902443_23902444insC g.23433234_23433235insC - - MYH7_001017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.241C>T r.(?) p.(Pro81Ser) - pathogenic g.23902397G>A g.23433188G>A - - MYH7_000048 - PubMed: Waldmuller 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.252C>T r.(?) p.(Phe84=) - likely benign g.23902386G>A g.23433177G>A - - MYH7_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.261C>T r.(?) p.(Ile87=) - likely benign g.23902377G>A g.23433168G>A MYH7(NM_000257.2):c.261C>T (p.I87=) - MYH7_000775 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.266A>G r.(?) p.(Asp89Gly) - VUS g.23902372T>C g.23433163T>C MYH7(NM_000257.2):c.266A>G (p.D89G) - MYH7_000774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., +/. 2 - c.287T>A r.(?) p.(Leu96Gln) - VUS, pathogenic g.23902351A>T g.23433142A>T MYH7(NM_000257.2):c.287T>A (p.L96Q) - MYH7_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.295C>G r.(?) p.(Pro99Ala) - VUS g.23902343G>C g.23433134G>C MYH7(NM_000257.2):c.295C>G (p.P99A) - MYH7_000773 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., -/. 3 - c.297C>T r.(?) p.(Pro99=) - likely benign, benign g.23902341G>A g.23433132G>A MYH7(NM_000257.2):c.297C>T (p.P99=) - MYH7_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Nijmegen
?/. 2 3 c.298G>A r.(?) p.(Ala100Thr) - VUS g.23902340C>T g.23433131C>T MYH7(NM_000257.2):c.298G>A (p.A100T), NM_000257:c.G298A - MYH7_000383 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - VKGL-NL_Rotterdam, Johan den Dunnen
-/. 1 4 c.321T>G r.(?) p.(Asp107Glu) - benign g.23902317A>C g.23433108A>C 6344T>G - MYH7_000367 - - - rs2754166 Germline - - - - - Johan den Dunnen
-/. 1 - c.327C>T r.(?) p.(Tyr109=) - benign g.23902311G>A g.23433102G>A MYH7(NM_000257.2):c.327C>T (p.Y109=) - MYH7_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.327_328dup r.(?) p.(Gly110AlafsTer5) - VUS g.23902310_23902311dup g.23433101_23433102dup MYH7(NM_000257.2):c.327_328dupCG (p.G110Afs*5) - MYH7_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 - c.328G>A r.(?) p.(Gly110Ser) - VUS g.23902310C>T g.23433101C>T MYH7(NM_000257.2):c.328G>A (p.G110S) - MYH7_000770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.331_332del r.(?) p.(Ser111LeufsTer26) - VUS g.23902307_23902308del g.23433098_23433099del MYH7(NM_000257.2):c.331_332delTC (p.S111Lfs*26) - MYH7_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 4 c.343T>C r.(?) p.(Tyr115His) - pathogenic g.23902295A>G g.23433086A>G - - MYH7_000049 - PubMed: Van Driest 2004 - - Germline - - - - - Johan den Dunnen
?/., -?/. 3 - c.345C>T r.(?) p.(Tyr115=) - VUS, likely benign g.23902293G>A g.23433084G>A MYH7(NM_000257.2):c.345C>T (p.Y115=) - MYH7_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 2 - c.345+24G>A r.(=) p.(=) - benign, likely benign g.23902269C>T g.23433060C>T MYH7(NM_000257.2):c.345+24G>A - MYH7_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.346-17T>C r.(=) p.(=) - benign g.23902021A>G g.23432812A>G MYH7(NM_000257.2):c.346-17T>C - MYH7_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 2 - c.354G>A r.(?) p.(Ser118=) - likely benign, benign g.23901996C>T g.23432787C>T MYH7(NM_000257.2):c.354G>A (p.S118=) - MYH7_000765 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 5 c.371C>T r.(?) p.(Thr124Ile) - pathogenic g.23901979G>A g.23432770G>A X52889.1:5353C>T - MYH7_000050 - PubMed: Rayment 1995, Fananapazir Circulation 1992 86:I229 - - Germline, Unknown - - - - - Johan den Dunnen
+?/. 1 - c.415G>T r.(?) p.(Val139Leu) - likely pathogenic g.23901935C>A g.23432726C>A MYH7(NM_000257.2):c.415G>T (p.V139L) - MYH7_000764 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.424T>C r.(?) p.(Tyr142His) - pathogenic g.23901926A>G g.23432717A>G - - MYH7_000051 - PubMed: Waldmuller 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.427C>G r.(?) p.(Arg143Gly) - pathogenic g.23901923G>C g.23432714G>C - - MYH7_000052 - PubMed: Mohiddin 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.427C>T r.(?) p.(Arg143Trp) - pathogenic g.23901923G>A g.23432714G>A - - MYH7_000053 - PubMed: Erdmann 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.428G>A r.(?) p.(Arg143Gln) - pathogenic g.23901922C>T g.23432713C>T X52889.1:5410G>A - MYH7_000054 - PubMed: Kimura 2001, Koyanagi Circulation 1996 94:I84 - - Germline, Unknown - - - - - Johan den Dunnen
+?/. 2 - c.430G>A r.(?) p.(Gly144Ser) - likely pathogenic g.23901920C>T g.23432711C>T MYH7(NM_000257.2):c.430G>A (p.G144S) - MYH7_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
+/. 1 5 c.438G>T r.(?) p.(Lys146Asn) - pathogenic g.23901912C>A g.23432703C>A - - MYH7_000055 - PubMed: Ingles 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.443G>T r.(?) p.(Ser148Ile) - pathogenic g.23901907C>A g.23432698C>A - - MYH7_000056 - PubMed: Mohiddin 2003 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.444C>A r.(?) p.(Ser148Arg) - likely benign g.23901906G>T g.23432697G>T - - MYH7_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.444C>T r.(?) p.(Ser148=) - likely benign g.23901906G>A g.23432697G>A - - MYH7_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.445G>A r.(?) p.(Glu149Lys) - likely pathogenic g.23901905C>T g.23432696C>T - - MYH7_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.449C>G r.(?) p.(Ala150Gly) - VUS g.23901901G>C g.23432692G>C - - MYH7_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.452C>T r.(?) p.(Pro151Leu) - likely pathogenic (recessive) g.23901898G>A g.23432689G>A - - MYH7_001049 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
-/., -?/. 5 - c.480C>T r.(?) p.(Asn160=) - benign, likely benign g.23901870G>A g.23432661G>A MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.481G>C r.(?) p.(Ala161Pro) - VUS g.23901869C>G g.23432660C>G - - MYH7_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 5 c.484T>C r.(?) p.(Tyr162His) - likely pathogenic g.23901866A>G g.23432657A>G - - MYH7_000057 - PubMed: Meder 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.485A>G r.(?) p.(Tyr162Cys) - pathogenic g.23901865T>C g.23432656T>C X52889.1:5467A>G - MYH7_000058 - PubMed: Rayment 1995, PubMed: Cuda 1994 - - Germline, Unknown - - - - - Johan den Dunnen
?/. 1 - c.493A>G r.(?) p.(Met165Val) - VUS g.23901857T>C g.23432648T>C - - MYH7_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +/. 3 - c.495G>A r.(?) p.(Met165Ile) - likely pathogenic, pathogenic g.23901855C>T g.23432646C>T MYH7(NM_000257.2):c.495G>A (p.M165I) - MYH7_000761 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.502+8G>T r.(=) p.(=) - likely benign g.23901840C>A g.23432631C>A MYH7(NM_000257.2):c.502+8G>T - MYH7_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.502+18G>A r.(=) p.(=) - benign, likely benign g.23901830C>T g.23432621C>T MYH7(NM_000257.2):c.502+18G>A - MYH7_000759 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
?/. 1 - c.502+33A>G r.(=) p.(=) - VUS g.23901815T>C - - - MYH7_001082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.506G>A r.(?) p.(Arg169Lys) - VUS g.23901712C>T g.23432503C>T MYH7(NM_000257.2):c.506G>A (p.R169K) - MYH7_000758 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.530C>T r.(?) p.(Thr177Ile) - pathogenic g.23901688G>A g.23432479G>A - - MYH7_000059 - PubMed: Millat 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.530+1G>A r.spl? p.? - VUS g.23901687C>T g.23432478C>T MYH7(NM_000257.2):c.530+1G>A - MYH7_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.530+33A>G r.(=) p.(=) - likely benign g.23901655T>C g.23432446T>C - - MYH7_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.530+106C>G r.(=) p.(=) - benign g.23901582G>C g.23432373G>C - - MYH7_001003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.531C>T r.(?) p.(Thr177=) - benign, likely benign g.23901078G>A g.23431869G>A MYH7(NM_000257.2):c.531C>T (p.T177=) - MYH7_000757 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
+?/., +/., ?/. 3 7 c.532G>A r.(?) p.(Gly178Arg) - likely pathogenic, pathogenic, VUS g.23901077C>T g.23431868C>T MYH7(NM_000257.2):c.532G>A (p.G178R) - MYH7_000060 VKGL data sharing initiative Nederland PubMed: Waldmuller 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen, VKGL-NL_Utrecht
?/., +?/. 2 - c.541G>A r.(?) p.(Gly181Arg) - VUS, likely pathogenic g.23901068C>T g.23431859C>T MYH7(NM_000257.2):c.541G>A (p.G181R) - MYH7_001002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.547G>A r.(?) p.(Gly183Arg) - pathogenic g.23901062C>T g.23431853C>T MYH7(NM_000257.2):c.547G>A (p.G183R) - MYH7_000756 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.556G>A r.(?) p.(Val186Ile) - VUS g.23901053C>T g.23431844C>T MYH7(NM_000257.2):c.556G>A (p.V186I) - MYH7_000755 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 7 c.556G>C r.(?) p.(Val186Leu) - pathogenic, VUS g.23901053C>G g.23431844C>G - - MYH7_000061 VKGL data sharing initiative Nederland PubMed: Ingles 2005 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 2 7 c.561C>G r.(?) p.(Asn187Lys) - pathogenic g.23901048G>C g.23431839G>C X52889.1:6275C>G - MYH7_000062 - PubMed: Rayment 1995, PubMed: Marian 1995 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 2 7 c.563C>A r.(?) p.(Thr188Asn) - pathogenic g.23901046G>T g.23431837G>T X52889.1:6277C>A - MYH7_000063 - PubMed: Richard 2003 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 3 7 c.569G>C r.(?) p.(Arg190Thr) - pathogenic g.23901040C>G g.23431831C>G X52889.1:6283G>C - MYH7_000064 - PubMed: Bundgaard 1999, Andersen AJHG1998 63:A349 - - Germline, Unknown - - - - - Johan den Dunnen
+?/. 1 - c.578A>G r.(?) p.(Gln193Arg) - likely pathogenic g.23901031T>C g.23431822T>C - - MYH7_001001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7 c.586G>A r.(?) p.(Ala196Thr) - pathogenic g.23901023C>T g.23431814C>T - - MYH7_000065 - PubMed: Woo 2003 - - Germline - - - - - Johan den Dunnen
-/. 7 - c.597A>G r.(=), r.(?) p.(=), p.(Ala199=) - benign g.23901012T>C g.23431803T>C MYH7(NM_000257.2):c.597A>G (p.A199=) - MYH7_000754 1 homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs2069541 Germline, CLASSIFICATION record - 1/2795 individuals, 61/2795 individuals - - - Mohammed Faruq, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.598G>A r.(?) p.(Ala200Thr) - VUS g.23901011C>T g.23431802C>T MYH7(NM_000257.2):c.598G>A (p.A200T) - MYH7_000752 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.599C>T r.(?) p.(Ala200Val) - VUS g.23901010G>A g.23431801G>A MYH7(NM_000257.2):c.599C>T (p.A200V) - MYH7_001000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 3 7 c.602T>C r.(?) p.(Ile201Thr) - pathogenic, likely pathogenic g.23901007A>G g.23431798A>G MYH7(NM_000257.2):c.602T>C (p.I201T) - MYH7_000066 VKGL data sharing initiative Nederland PubMed: Villard 2005 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 7 c.605_607del r.(?) p.(Gly202del) - pathogenic g.23901003_23901005del g.23431794_23431796del 605_607delGGG - MYH7_000070 - PubMed: Waldmuller 2011 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.610C>T r.(?) p.(Arg204Cys) - likely pathogenic g.23900999G>A g.23431790G>A - - MYH7_000999 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +?/., +/. 4 7 c.611G>A r.(?) p.(Arg204His) ACMG VUS, likely pathogenic, pathogenic g.23900998C>T g.23431789C>T MYH7(NM_000257.2):c.611G>A (p.R204H) - MYH7_000067 VKGL data sharing initiative Nederland, ACMG grading: PM1, PM2, PM5, PP2, PP3, PP5 PubMed: Fichna 2018, PubMed: Richard 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 7 c.619A>C r.(?) p.(Lys207Gln) - pathogenic g.23900990T>G g.23431781T>G - - MYH7_000068 - PubMed: Mohiddin 2003 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.625C>A r.(?) p.(Gln209Lys) - VUS g.23900984G>T g.23431775G>T MYH7(NM_000257.2):c.625C>A (p.Q209K) - MYH7_000998 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/., +/. 3 7 c.632C>T r.(?) p.(Pro211Leu) - VUS, pathogenic g.23900977G>A g.23431768G>A MYH7(NM_000257.2):c.632C>T (p.P211L) - MYH7_000069 VKGL data sharing initiative Nederland PubMed: Woo 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Johan den Dunnen
-?/. 1 - c.639+20A>G r.(=) p.(=) - likely benign g.23900950T>C g.23431741T>C - - MYH7_000997 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.639+31C>T r.(=) p.(=) - benign g.23900939G>A g.23431730G>A - - MYH7_000996 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.639+32G>A r.(=) p.(=) - likely benign g.23900938C>T g.23431729C>T - - MYH7_000995 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.640-18C>T r.(=) p.(=) - benign, likely benign g.23900904G>A g.23431695G>A MYH7(NM_000257.2):c.640-18C>T - MYH7_000994 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 8 c.641G>A r.(?) p.(Gly214Asp) - pathogenic g.23900885C>T g.23431676C>T - - MYH7_000071 - PubMed: Waldmuller 2008 - - Germline - - - - - Johan den Dunnen
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