Full data view for 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.

1701 entries on 18 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-36C>T r.(?) p.(=) Unknown - likely benign g.23903430G>A g.23434221G>A - - MYH7_001022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8-104T>C r.(=) p.(=) Unknown - likely benign g.23903053A>G g.23433844A>G - - MYH7_001021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8-25G>T r.(=) p.(=) Unknown - benign g.23902974C>A g.23433765C>A MYH7(NM_000257.2):c.-8-25G>T - MYH7_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-8-25G>T r.(=) p.(=) Unknown - benign g.23902974C>A g.23433765C>A MYH7(NM_000257.2):c.-8-25G>T - MYH7_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.8A>C r.(?) p.(Asp3Ala) Unknown - benign g.23902934T>G g.23433725T>G 5728A>C - MYH7_000370 - - - rs3729993 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.11C>T r.(?) p.(Ser4Leu) Unknown - pathogenic g.23902931G>A g.23433722G>A - - MYH7_000043 - PubMed: Garci≠a-Castro 2009 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Garci≠a-Castro 2009 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.11C>T r.(?) p.(Ser4Leu) Unknown - VUS g.23902931G>A g.23433722G>A MYH7(NM_000257.2):c.11C>T (p.S4L) - MYH7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>A r.(?) p.(Ser4=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.29_31del r.(?) p.(Gly10del) Unknown - pathogenic g.23902912_23902914del g.23433703_23433705del 29_31delGGG - MYH7_000047 - PubMed: Nakajima-Taniguchi 1995 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Nakajima-Taniguchi 1995 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.37G>A r.(?) p.(Ala13Thr) Unknown - pathogenic g.23902905C>T g.23433696C>T - - MYH7_000045 - PubMed: Seleznev 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Seleznev 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.50G>A r.(?) p.(Arg17His) Unknown - VUS g.23902892C>T g.23433683C>T NM_000257:c.G50A - MYH7_000381 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.50G>A r.(?) p.(Arg17His) Unknown ACMG VUS g.23902892C>T g.23433683C>T - - MYH7_000381 - - - rs727503280 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.58G>A r.(?) p.(Glu20Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67C>T r.(?) p.(Arg23Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.67C>T r.(?) p.(Arg23Trp) Unknown - - g.23902875G>A - MYH7(NM_000257.2):c.67C>T (p.R23W) - MYH7_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Ala26Val) Unknown - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Ala26Val) Unknown - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.77C>T r.(?) p.(Ala26Val) Unknown - pathogenic g.23902865G>A g.23433656G>A - - MYH7_000046 - PubMed: Song 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Song 2005 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.77C>T r.(?) p.(Ala26Val) Unknown - likely pathogenic g.23902865G>A g.23433656G>A - - MYH7_000046 - PubMed: Wang 2008 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH 19645038 PubMed: Wang 2008 - - - China - - 0 - - 1 Peikuan Cong
+/. 3 c.77C>T r.(?) p.(Ala26Val) Parent #1 - pathogenic g.23902865G>A g.23433656G>A X52889.1:4470C>T - MYH7_000046 - Koyanagi Circulation 1996 94:I110 - - Unknown - - - 0 - DNA SEQ - - CMH - Koyanagi Circulation 1996 94:I110 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.77C>T r.(?) p.(Ala26Val) Parent #1 - likely pathogenic g.23902865G>A g.23433656G>A A26V - MYH7_000046 - PubMed: Matsushita 2007 - - Germline - - - 0 - DNA SEQ - - CMH FamBPatI2 PubMed: Matsushita 2007 2-generation family, 4 affected heterozygous carriers (F, 3M) F no Japan - - 0 - - 1 Johan den Dunnen
?/. - c.77C>T r.(?) p.(Ala26Val) Unknown - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T r.(?) p.(Ala26Val) Unknown - likely benign g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97C>G r.(?) p.(Leu33Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.115G>A r.(?) p.(Val39Met) Unknown - pathogenic g.23902827C>T g.23433618C>T - - MYH7_000042 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Richard 2003 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.115G>A r.(?) p.(Val39Met) Unknown - VUS g.23902827C>T g.23433618C>T MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115G>A r.(?) p.(Val39Met) Unknown - VUS g.23902827C>T g.23433618C>T MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Asp41Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Asp41Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T r.(?) p.(Ile51=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T r.(?) p.(Ile51=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.160C>T r.(?) p.(Arg54*) Parent #1 - benign g.23902782G>A g.23433573G>A X52889.1:4553C>T - MYH7_000818 not inherited affected parent PubMed: Nishi 1995 - - Germline no - - 0 - DNA SEQ - - CMH - PubMed: Nishi 1995 2-generation family, 1 affected, 2 unaffecteds carry R54* - - - - - 0 - - 1 Johan den Dunnen
?/. - c.161G>A r.(?) p.(Arg54Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.161G>T r.(?) p.(Arg54Leu) Parent #1 - likely pathogenic g.23902781C>A g.23433572C>A - - MYH7_000403 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - - - 0 - DNA SEQ-NG-I - - CMH Pat94 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - 1 Domenico Coviello
+?/. - c.173A>G r.(?) p.(Lys58Arg) Unknown - likely pathogenic g.23902769T>C g.23433560T>C - - MYH7_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.175G>A r.(?) p.(Val59Ile) Parent #1 - pathogenic g.23902767C>T g.23433558C>T X52889.1:4568G>A - MYH7_000354 - Harada Circulation 1992 86:I591 - - Unknown - - - 0 - DNA SEQ - - CMH - Harada Circulation 1992 86:I591 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.185A>G r.(?) p.(Glu62Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Thr63=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Thr63=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Thr63=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Thr63=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Thr63=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201+121T>C r.(=) p.(=) Unknown - benign g.23902620A>G g.23433411A>G - - MYH7_001019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-26G>A r.(=) p.(=) Unknown - likely benign g.23902462C>T g.23433253C>T - - MYH7_001018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-8_202-7insG r.(=) p.(=) Unknown - likely benign g.23902443_23902444insC g.23433234_23433235insC - - MYH7_001017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.241C>T r.(?) p.(Pro81Ser) Unknown - pathogenic g.23902397G>A g.23433188G>A - - MYH7_000048 - PubMed: Waldmuller 2011 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Waldmuller 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.252C>T r.(?) p.(Phe84=) Unknown - likely benign g.23902386G>A g.23433177G>A - - MYH7_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261C>T r.(?) p.(Ile87=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.266A>G r.(?) p.(Asp89Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.287T>A r.(?) p.(Leu96Gln) Unknown - VUS g.23902351A>T g.23433142A>T MYH7(NM_000257.2):c.287T>A (p.L96Q) - MYH7_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.287T>A r.(?) p.(Leu96Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295C>G r.(?) p.(Pro99Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.297C>T r.(?) p.(Pro99=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Pro99=) Unknown - likely 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Pro99=) Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.298G>A r.(?) p.(Ala100Thr) Unknown - VUS g.23902340C>T g.23433131C>T NM_000257:c.G298A - MYH7_000383 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.298G>A r.(?) p.(Ala100Thr) Unknown - VUS g.23902340C>T g.23433131C>T MYH7(NM_000257.2):c.298G>A (p.A100T) - MYH7_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.321T>G r.(?) p.(Asp107Glu) Unknown - benign g.23902317A>C g.23433108A>C 6344T>G - MYH7_000367 - - - rs2754166 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T r.(?) p.(Tyr109=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.327_328dup r.(?) p.(Gly110AlafsTer5) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Gly110Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Gly110Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Gly110Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331_332del r.(?) p.(Ser111LeufsTer26) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.343T>C r.(?) p.(Tyr115His) Unknown - pathogenic g.23902295A>G g.23433086A>G - - MYH7_000049 - PubMed: Van Driest 2004 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Van Driest 2004 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.345C>T r.(?) p.(Tyr115=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.345C>T r.(?) p.(Tyr115=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.345C>T r.(?) p.(Tyr115=) Unknown - VUS g.23902293G>A g.23433084G>A MYH7(NM_000257.2):c.345C>T (p.Y115=) - MYH7_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+24G>A r.(=) p.(=) Unknown - benign g.23902269C>T g.23433060C>T MYH7(NM_000257.2):c.345+24G>A - MYH7_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.345+24G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346-17T>C r.(=) p.(=) Unknown - benign g.23902021A>G g.23432812A>G MYH7(NM_000257.2):c.346-17T>C - MYH7_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354G>A r.(?) p.(Ser118=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.354G>A r.(?) p.(Ser118=) Unknown - likely 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.371C>T r.(?) p.(Thr124Ile) Unknown - pathogenic g.23901979G>A g.23432770G>A - - MYH7_000050 - PubMed: Rayment 1995 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Rayment 1995 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.371C>T r.(?) p.(Thr124Ile) Parent #1 - pathogenic g.23901979G>A g.23432770G>A X52889.1:5353C>T - MYH7_000050 - Fananapazir Circulation 1992 86:I229 - - Unknown - - - 0 - DNA SEQ - - CMH - Fananapazir Circulation 1992 86:I229 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.415G>T r.(?) p.(Val139Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.424T>C r.(?) p.(Tyr142His) Unknown - pathogenic g.23901926A>G g.23432717A>G - - MYH7_000051 - PubMed: Waldmuller 2011 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Waldmuller 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.427C>G r.(?) p.(Arg143Gly) Unknown - pathogenic g.23901923G>C g.23432714G>C - - MYH7_000052 - PubMed: Mohiddin 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Mohiddin 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.427C>T r.(?) p.(Arg143Trp) Unknown - pathogenic g.23901923G>A g.23432714G>A - - MYH7_000053 - PubMed: Erdmann 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Erdmann 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.428G>A r.(?) p.(Arg143Gln) Unknown - pathogenic g.23901922C>T g.23432713C>T - - MYH7_000054 - PubMed: Kimura 2001 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Kimura 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.428G>A r.(?) p.(Arg143Gln) Parent #1 - pathogenic g.23901922C>T g.23432713C>T X52889.1:5410G>A - MYH7_000054 - Koyanagi Circulation 1996 94:I84 - - Unknown - - - 0 - DNA SEQ - - CMH - Koyanagi Circulation 1996 94:I84 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Gly144Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.430G>A r.(?) p.(Gly144Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.438G>T r.(?) p.(Lys146Asn) Unknown - pathogenic g.23901912C>A g.23432703C>A - - MYH7_000055 - PubMed: Ingles 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Ingles 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.443G>T r.(?) p.(Ser148Ile) Unknown - pathogenic g.23901907C>A g.23432698C>A - - MYH7_000056 - PubMed: Mohiddin 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Mohiddin 2003 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.444C>A r.(?) p.(Ser148Arg) Unknown - likely benign g.23901906G>T g.23432697G>T - - MYH7_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>T r.(?) p.(Ser148=) Unknown - likely benign g.23901906G>A g.23432697G>A - - MYH7_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.445G>A r.(?) p.(Glu149Lys) Unknown - likely pathogenic g.23901905C>T g.23432696C>T - - MYH7_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449C>G r.(?) p.(Ala150Gly) Unknown - VUS g.23901901G>C g.23432692G>C - - MYH7_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.452C>T r.(?) p.(Pro151Leu) Parent #1 - likely pathogenic (recessive) g.23901898G>A g.23432689G>A - - MYH7_001049 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MYOP Pat30 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
-/. - c.480C>T r.(?) p.(Asn160=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.480C>T r.(?) p.(Asn160=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T r.(?) p.(Asn160=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T r.(?) p.(Asn160=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T r.(?) p.(Asn160=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>C r.(?) p.(Ala161Pro) Unknown - VUS g.23901869C>G g.23432660C>G - - MYH7_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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