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.

1596 entries on 16 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-36C>T likely benign r.(?) p.(=) Unknown g.23903430G>A - - - MYH7_001022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8-104T>C likely benign r.(=) p.(=) Unknown g.23903053A>G - - - MYH7_001021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8-25G>T benign r.(=) p.(=) Unknown g.23902974C>A - MYH7(NM_000257.2):c.-8-25G>T - MYH7_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-8-25G>T benign r.(=) p.(=) Unknown g.23902974C>A - MYH7(NM_000257.2):c.-8-25G>T - MYH7_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.8A>C benign r.(?) p.(Asp3Ala) Unknown g.23902934T>G - 5728A>C - MYH7_000370 - - - rs3729993 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.11C>T pathogenic r.(?) p.(Ser4Leu) Unknown g.23902931G>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 VUS r.(?) p.(Ser4Leu) Unknown g.23902931G>A - MYH7(NM_000257.2):c.11C>T (p.S4L) - MYH7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>A benign r.(?) p.(=) Unknown g.23902930C>T - MYH7(NM_000257.2):c.12G>A (p.S4=) - MYH7_001047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.29_31del pathogenic r.(?) p.(Gly10del) Unknown g.23902911_23902913del - 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 pathogenic r.(?) p.(Ala13Thr) Unknown g.23902905C>T - - - MYH7_000045 - PubMed: Seleznev 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Seleznev 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.49C>T VUS r.(?) p.(Arg17Cys) Unknown g.23902893G>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 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.58G>A VUS r.(?) p.(Glu20Lys) Unknown g.23902884C>T - MYH7(NM_000257.2):c.58G>A (p.E20K) - MYH7_001020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67C>T VUS 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.77C>T pathogenic r.(?) p.(Ala26Val) Unknown g.23902865G>A - - - MYH7_000046 - PubMed: Song 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Song 2005 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.77C>T likely pathogenic r.(?) p.(Ala26Val) Unknown g.23902865G>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 pathogenic r.(?) p.(Ala26Val) Parent #1 g.23902865G>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 likely pathogenic r.(?) p.(Ala26Val) Parent #1 g.23902865G>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 VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.115G>A pathogenic r.(?) p.(Val39Met) Unknown g.23902827C>T - - - MYH7_000042 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Richard 2003 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.115G>A VUS r.(?) p.(Val39Met) Unknown g.23902827C>T - MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115G>A VUS r.(?) p.(Val39Met) Unknown g.23902827C>T - MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A VUS r.(?) p.(Asp41Asn) Unknown g.23902821C>T - MYH7(NM_000257.2):c.121G>A (p.D41N) - MYH7_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A VUS r.(?) p.(Asp41Asn) Unknown g.23902821C>T - MYH7(NM_000257.2):c.121G>A (p.D41N) - MYH7_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T likely benign r.(?) p.(=) Unknown g.23902789G>A - MYH7(NM_000257.2):c.153C>T (p.I51=) - MYH7_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T likely benign r.(?) p.(=) Unknown g.23902789G>A - MYH7(NM_000257.2):c.153C>T (p.I51=) - MYH7_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.160C>T benign r.(?) p.(Arg54*) Parent #1 g.23902782G>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 VUS r.(?) p.(Arg54Gln) Unknown g.23902781C>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 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 likely pathogenic r.(?) p.(Lys58Arg) Unknown g.23902769T>C - - - MYH7_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.175G>A pathogenic r.(?) p.(Val59Ile) Parent #1 g.23902767C>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 VUS r.(?) p.(Glu62Gly) Unknown g.23902757T>C - MYH7(NM_000257.2):c.185A>G (p.E62G) - MYH7_000779 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T benign r.(?) p.(=) Unknown g.23902753G>A - MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T benign r.(?) p.(=) Unknown g.23902753G>A - MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T benign r.(?) p.(=) Unknown g.23902753G>A - MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T benign r.(?) p.(=) Unknown g.23902753G>A - MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T benign r.(?) p.(=) Unknown g.23902753G>A - MYH7(NM_000257.2):c.189C>T (p.T63=) - MYH7_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A likely benign r.(=) p.(=) Unknown g.23902733A>T - MYH7(NM_000257.2):c.201+8T>A - MYH7_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A likely benign r.(=) p.(=) Unknown g.23902733A>T - MYH7(NM_000257.2):c.201+8T>A - MYH7_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201+8T>A likely benign r.(=) p.(=) Unknown g.23902733A>T - MYH7(NM_000257.2):c.201+8T>A - MYH7_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201+121T>C benign r.(=) p.(=) Unknown g.23902620A>G - - - MYH7_001019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-26G>A likely benign r.(=) p.(=) Unknown g.23902462C>T - - - MYH7_001018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-8_202-7insG likely benign r.(=) p.(=) Unknown g.23902443_23902444insC - - - MYH7_001017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.241C>T pathogenic r.(?) p.(Pro81Ser) Unknown g.23902397G>A - - - MYH7_000048 - PubMed: Waldmuller 2011 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Waldmuller 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.252C>T likely benign r.(?) p.(=) Unknown g.23902386G>A - - - MYH7_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261C>T likely benign r.(?) p.(=) Unknown g.23902377G>A - MYH7(NM_000257.2):c.261C>T (p.I87=) - MYH7_000775 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.266A>G VUS r.(?) p.(Asp89Gly) Unknown g.23902372T>C - MYH7(NM_000257.2):c.266A>G (p.D89G) - MYH7_000774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.287T>A VUS r.(?) p.(Leu96Gln) Unknown g.23902351A>T - MYH7(NM_000257.2):c.287T>A (p.L96Q) - MYH7_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.287T>A pathogenic r.(?) p.(Leu96Gln) Unknown g.23902351A>T - MYH7(NM_000257.2):c.287T>A (p.L96Q) - MYH7_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295C>G VUS r.(?) p.(Pro99Ala) Unknown g.23902343G>C - MYH7(NM_000257.2):c.295C>G (p.P99A) - MYH7_000773 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.297C>T benign r.(?) p.(=) Unknown g.23902341G>A - MYH7(NM_000257.2):c.297C>T (p.P99=) - MYH7_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T likely benign r.(?) p.(=) Unknown g.23902341G>A - MYH7(NM_000257.2):c.297C>T (p.P99=) - MYH7_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T likely benign r.(?) p.(=) Unknown g.23902341G>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 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 VUS r.(?) p.(Ala100Thr) Unknown g.23902340C>T - MYH7(NM_000257.2):c.298G>A (p.A100T) - MYH7_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.321T>G benign r.(?) p.(Asp107Glu) Unknown g.23902317A>C - 6344T>G - MYH7_000367 - - - rs2754166 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T benign r.(?) p.(=) Unknown g.23902311G>A - MYH7(NM_000257.2):c.327C>T (p.Y109=) - MYH7_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.327_328dup VUS r.(?) p.(Gly110Alafs*5) Unknown g.23902310_23902311dup - MYH7(NM_000257.2):c.327_328dupCG (p.G110Afs*5) - MYH7_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A VUS r.(?) p.(Gly110Ser) Unknown g.23902310C>T - MYH7(NM_000257.2):c.328G>A (p.G110S) - MYH7_000770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A VUS r.(?) p.(Gly110Ser) Unknown g.23902310C>T - MYH7(NM_000257.2):c.328G>A (p.G110S) - MYH7_000770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A VUS r.(?) p.(Gly110Ser) Unknown g.23902310C>T - MYH7(NM_000257.2):c.328G>A (p.G110S) - MYH7_000770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331_332del VUS r.(?) p.(Ser111Leufs*26) Unknown g.23902307_23902308del - MYH7(NM_000257.2):c.331_332delTC (p.S111Lfs*26) - MYH7_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.343T>C pathogenic r.(?) p.(Tyr115His) Unknown g.23902295A>G - - - MYH7_000049 - PubMed: Van Driest 2004 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Van Driest 2004 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.345C>T likely benign r.(?) p.(=) Unknown g.23902293G>A - MYH7(NM_000257.2):c.345C>T (p.Y115=) - MYH7_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.345C>T likely benign r.(?) p.(=) Unknown g.23902293G>A - MYH7(NM_000257.2):c.345C>T (p.Y115=) - MYH7_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.345C>T VUS r.(?) p.(=) Unknown g.23902293G>A - MYH7(NM_000257.2):c.345C>T (p.Y115=) - MYH7_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+24G>A benign r.(=) p.(=) Unknown g.23902269C>T - MYH7(NM_000257.2):c.345+24G>A - MYH7_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.345+24G>A likely benign r.(=) p.(=) Unknown g.23902269C>T - MYH7(NM_000257.2):c.345+24G>A - MYH7_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346-17T>C benign r.(=) p.(=) Unknown g.23902021A>G - MYH7(NM_000257.2):c.346-17T>C - MYH7_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354G>A benign r.(?) p.(=) Unknown g.23901996C>T - MYH7(NM_000257.2):c.354G>A (p.S118=) - MYH7_000765 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.354G>A likely benign r.(?) p.(=) Unknown g.23901996C>T - MYH7(NM_000257.2):c.354G>A (p.S118=) - MYH7_000765 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.371C>T pathogenic r.(?) p.(Thr124Ile) Unknown g.23901979G>A - - - MYH7_000050 - PubMed: Rayment 1995 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Rayment 1995 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.371C>T pathogenic r.(?) p.(Thr124Ile) Parent #1 g.23901979G>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 likely pathogenic r.(?) p.(Val139Leu) Unknown g.23901935C>A - MYH7(NM_000257.2):c.415G>T (p.V139L) - MYH7_000764 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.424T>C pathogenic r.(?) p.(Tyr142His) Unknown g.23901926A>G - - - MYH7_000051 - PubMed: Waldmuller 2011 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Waldmuller 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.427C>G pathogenic r.(?) p.(Arg143Gly) Unknown g.23901923G>C - - - MYH7_000052 - PubMed: Mohiddin 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Mohiddin 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.427C>T pathogenic r.(?) p.(Arg143Trp) Unknown g.23901923G>A - - - MYH7_000053 - PubMed: Erdmann 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Erdmann 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.428G>A pathogenic r.(?) p.(Arg143Gln) Unknown g.23901922C>T - - - MYH7_000054 - PubMed: Kimura 2001 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Kimura 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.428G>A pathogenic r.(?) p.(Arg143Gln) Parent #1 g.23901922C>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 likely pathogenic r.(?) p.(Gly144Ser) Unknown g.23901920C>T - MYH7(NM_000257.2):c.430G>A (p.G144S) - MYH7_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.430G>A likely pathogenic r.(?) p.(Gly144Ser) Unknown g.23901920C>T - MYH7(NM_000257.2):c.430G>A (p.G144S) - MYH7_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.438G>T pathogenic r.(?) p.(Lys146Asn) Unknown g.23901912C>A - - - MYH7_000055 - PubMed: Ingles 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Ingles 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.443G>T pathogenic r.(?) p.(Ser148Ile) Unknown g.23901907C>A - - - MYH7_000056 - PubMed: Mohiddin 2003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Mohiddin 2003 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.444C>A likely benign r.(?) p.(Ser148Arg) Unknown g.23901906G>T - - - MYH7_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>T likely benign r.(?) p.(=) Unknown g.23901906G>A - - - MYH7_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.445G>A likely pathogenic r.(?) p.(Glu149Lys) Unknown g.23901905C>T - - - MYH7_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449C>G VUS r.(?) p.(Ala150Gly) Unknown g.23901901G>C - - - MYH7_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T benign r.(?) p.(=) Unknown g.23901870G>A - MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.480C>T likely benign r.(?) p.(=) Unknown g.23901870G>A - MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T benign r.(?) p.(=) Unknown g.23901870G>A - MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T benign r.(?) p.(=) Unknown g.23901870G>A - MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T benign r.(?) p.(=) Unknown g.23901870G>A - MYH7(NM_000257.2):c.480C>T (p.N160=, p.=) - MYH7_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>C VUS r.(?) p.(Ala161Pro) Unknown g.23901869C>G - - - MYH7_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.484T>C likely pathogenic r.(?) p.(Tyr162His) Unknown g.23901866A>G - - - MYH7_000057 - PubMed: Meder 2011 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Meder 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.485A>G pathogenic r.(?) p.(Tyr162Cys) Unknown g.23901865T>C - - - MYH7_000058 - PubMed: Rayment 1995 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Rayment 1995 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.485A>G pathogenic r.(?) p.(Tyr162Cys) Parent #1 g.23901865T>C - X52889.1:5467A>G - MYH7_000058 - PubMed: Cuda 1994 - - Unknown - - - 0 - DNA SEQ - - CMH - PubMed: Cuda 1994 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.493A>G VUS r.(?) p.(Met165Val) Unknown g.23901857T>C - - - MYH7_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.495G>A pathogenic r.(?) p.(Met165Ile) Unknown g.23901855C>T - MYH7(NM_000257.2):c.495G>A (p.M165I) - MYH7_000761 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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