Full data view for gene DNM2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001005360.2 transcript reference sequence.

154 entries on 2 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.41A>G r.(?) p.(Asn14Ser) Unknown - VUS g.10828959A>G g.10718283A>G - - QTRT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.190G>A r.(?) p.(Val64Ile) Unknown - benign g.10870442G>A g.10759766G>A DNM2(NM_001005360.2):c.190G>A (p.V64I) - DNM2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190G>A r.(?) p.(Val64Ile) Unknown - VUS g.10870442G>A g.10759766G>A - - DNM2_000062 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MYOP Pat53 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
?/. - c.190G>A r.(?) p.(Val64Ile) Unknown - VUS g.10870442G>A g.10759766G>A - - DNM2_000062 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MYOP Pat54 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
-/. - c.235+6A>G r.(=) p.(=) Unknown - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.235+6A>G r.(=) p.(=) Unknown - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235+6A>G r.(=) p.(=) Unknown - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.235+12C>A r.(=) p.(=) Parent #1 - VUS g.10870499C>A g.10759823C>A - - DNM2_000026 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.235+12C>A r.(=) p.(=) Unknown - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.235+12C>A r.(=) p.(=) Unknown - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.235+12C>A r.(=) p.(=) Unknown - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.236-29C>G r.(=) p.(=) Parent #1 - benign g.10883126C>G g.10772450C>G - - DNM2_000027 - - - rs3826803 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.236-8C>G r.(=) p.(=) Unknown - likely benign g.10883147C>G g.10772471C>G - - DNM2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238C>T r.(?) p.(His80Tyr) Unknown - likely benign g.10883157C>T g.10772481C>T DNM2(NM_001005360.2):c.238C>T (p.H80Y) - DNM2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.269A>G r.(?) p.(Lys90Arg) Unknown - VUS g.10883188A>G - DNM2(NM_001005360.2):c.269A>G (p.K90R) - DNM2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>T r.(?) p.(Arg98Trp) Parent #1 - VUS g.10883211C>T g.10772535C>T - - DNM2_000070 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200408053 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.519T>C r.(?) p.(Ala173=) Unknown - benign g.10886512T>C g.10775836T>C - - DNM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.596G>A r.(?) p.(Arg199Gln) Unknown - pathogenic g.10887800G>A g.10777124G>A - - DNM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637G>T r.(?) p.(Gly213Cys) Unknown - VUS g.10887841G>T g.10777165G>T - - DNM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.666C>T r.(?) p.(Asn222=) Unknown - likely benign g.10887870C>T g.10777194C>T DNM2(NM_001005360.2):c.666C>T (p.N222=) - DNM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.688+7C>T r.(=) p.(=) Unknown - likely benign g.10887899C>T g.10777223C>T DNM2(NM_001005360.2):c.688+7C>T - DNM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.745C>T r.(?) p.(Arg249Cys) Unknown - likely pathogenic g.10893692C>T g.10783016C>T - - DNM2_000076 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.788C>T r.(?) p.(Pro263Leu) Parent #1 - likely benign g.10893735C>T g.10783059C>T - - DNM2_000071 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3745674 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.851A>G r.(?) p.(Gln284Arg) Unknown - pathogenic g.10897241A>G g.10786565A>G - - DNM2_000086 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - NMD Pat64 PubMed: Thomas 2022 no family history - no France - - 0 - - 1 Johan den Dunnen
?/. - c.853C>G r.(?) p.(Leu285Val) Unknown - VUS g.10897243C>G g.10786567C>G - - DNM2_000069 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MDC Pat36 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.869G>A r.(?) p.(Arg290Gln) Parent #1 ACMG likely pathogenic (dominant) g.10897259G>A g.10786583G>A - - DNM2_000084 ACMG PS3, PM2 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam46Pat52 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.881C>T r.(?) p.(Pro294Leu) Unknown ACMG likely pathogenic (dominant) g.10897271C>T - - - DNM2_000082 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+?/. - c.890G>A r.(?) p.(Arg297His) Unknown - VUS g.10897280G>A g.10786604G>A - - DNM2_000085 ACMG: PM2-PP2-PP3 PubMed: Ferese 2021 SCV000762731.1 rs763894364 Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - CMTDIB;CMT2M 856 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing M - Italy - >67y - - - 1 Yvet den Hartog
-?/. - c.992+11C>T r.(=) p.(=) Unknown - likely benign g.10897393C>T g.10786717C>T DNM2(NM_001005360.2):c.992+11C>T - DNM2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1072G>A r.(?) p.(Gly358Arg) Parent #1 - pathogenic g.10904475G>A g.10793799G>A - - DNM2_000017 not in 384 control chromosomes PubMed: Gallardo 2008, PubMed: Claeys 2009, OMIM:var0012 - - Germline - - - 0 - DNA SEQ - - CMT2 - PubMed: Claeys 2009 2-generation family, 3 affecteds - - Spain - - 0 - - 3 Johan den Dunnen
+/. - c.1072G>A r.(?) p.(Gly358Arg) Unknown - pathogenic g.10904475G>A g.10793799G>A - - DNM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.1077C>T r.(=) p.(=) Parent #1 - benign g.10904480C>T g.10793804C>T - - DNM2_000028 - - - rs112238216 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1077C>T r.(?) p.(Gly359=) Unknown - benign g.10904480C>T g.10793804C>T DNM2(NM_001005360.2):c.1077C>T (p.G359=) - DNM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1077C>T r.(?) p.(Gly359=) Unknown - benign g.10904480C>T g.10793804C>T DNM2(NM_001005360.2):c.1077C>T (p.G359=) - DNM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1090C>T r.(?) p.(Arg364Cys) Unknown - likely pathogenic g.10904493C>T g.10793817C>T DNM2(NM_001005360.2):c.1090C>T (p.R364C) - DNM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) Parent #1 - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: O'Grady 2016 - - De novo - - - 0 - DNA SEQ - - MDC Pat66 PubMed: O'Grady 2016 - F - Australia - >12y 0 - - 1 Sandra Cooper
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) Parent #1 - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 not in 300 control chromosomes; de novo, in patient PubMed: Bitoun 2005, OMIM:var0007 - - De novo - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - France - - 0 - - 1 Johan den Dunnen
+?/. 8 c.1102G>A r.(?) p.(Glu368Lys) Unknown - likely pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: Tosch 2006, OMIM:var0002 - rs121434510 De novo - - - 0 - DNA DHPLC, SEQ - - CNM1 - - - F - Brazil - >36y 0 - - 1 Johan den Dunnen
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) Parent #1 - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - - - - Germline - - - 0 - DNA PCR, SEQ - - CNM1 - - - M - United States - - 0 - - 1 Tom Winder
+/. - c.1102G>A r.(?) p.(Glu368Lys) Unknown - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1102G>A r.(?) p.(Glu368Lys) Parent #1 - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909092 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.1102G>A r.(?) p.(Glu368Lys) Unknown ACMG pathogenic g.10904505G>A - - - DNM2_000001 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. - c.1102G>A r.(?) p.(Glu368Lys) Unknown ACMG pathogenic g.10904505G>A - - - DNM2_000001 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - M no Japan - - - - - 1 Mariko Okubo
+/. - c.1102G>A r.(?) p.(Glu368Lys) Parent #1 ACMG pathogenic (dominant) g.10904505G>A g.10793829G>A - - DNM2_000001 ACMG PM1, PM2, PM3, PM5, PM6, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam45Pat51 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.1102G>A r.(?) p.(Glu368Lys) Parent #1 ACMG pathogenic (dominant) g.10904505G>A g.10793829G>A - - DNM2_000001 ACMG PM1, PM2, PM5, PM6, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam47Pat53 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - 1 Johan den Dunnen
+?/. - c.1102G>A r.(?) p.(Glu368Lys) Parent #1 - likely pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P125 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - 1 Johan den Dunnen
+/. 8 c.1102G>C r.(?) p.(Glu368Gln) Parent #1 - pathogenic g.10904505G>C g.10793829G>C - - DNM2_000012 - PubMed: Echaniz-Laguna 2007 - - Germline - - - 0 - DNA SEQ - - CNM1 - PubMed: Echaniz-Laguna 2007 2-generation family, 5 affecteds (mother, 3 daugthers, son) - - France - - 0 - - 5 Johan den Dunnen
+/. - c.1102G>C r.(?) p.(Glu368Gln) Unknown - pathogenic g.10904505G>C g.10793829G>C DNM2(NM_001005360.2):c.1102G>C (p.E368Q) - DNM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) Parent #1 - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - DNA PCRdig, SEQ - - CNM1 - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) Parent #1 - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - DNA PCRdig, SEQ - - CNM1 - - 3-generation family, 6 affecteds - - France - - 0 - - 6 Johan den Dunnen
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) Parent #1 - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - DNA PCRdig, SEQ - - CNM1 - - - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - likely pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1105C>T r.(?) p.(Arg369Trp) Parent #1 - likely pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P72 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - 1 Johan den Dunnen
+/. 8 c.1106G>A r.(?) p.(Arg369Gln) Parent #1 - pathogenic g.10904509G>A g.10793833G>A - - DNM2_000007 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0004 - - Germline - - AciI- 0 - DNA PCRdig, SEQ - - CNM1 - - 3-generation family, 14 affecteds - - Guiana, French - - 0 - - 14 Johan den Dunnen
+?/. - c.1106G>A r.(?) p.(Arg369Gln) Unknown - likely pathogenic (dominant) g.10904509G>A g.10793833G>A - - DNM2_000007 AD, segregates with disease PubMed: Antoniadi 2015 - rs121909089 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1106G>A r.(?) p.(Arg369Gln) Unknown ACMG pathogenic g.10904509G>A - - - DNM2_000007 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+?/. - c.1106G>A r.(?) p.(Arg369Gln) Parent #1 - likely pathogenic g.10904509G>A g.10793833G>A - - DNM2_000007 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P99 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - 1 Johan den Dunnen
+?/. 8 c.1115T>C r.(?) p.(Phe372Ser) Unknown - likely pathogenic g.10904518T>C g.10793842T>C - - DNM2_000023 - - - - De novo - - - 0 - DNA PCR, SEQ - - CNM1 - - - M - United States - - 0 - - 1 Tom Winder
-?/. - c.1218C>T r.(?) p.(Asp406=) Unknown - likely benign g.10906758C>T g.10796082C>T DNM2(NM_001005360.2):c.1218C>T (p.D406=) - DNM2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1335+13C>T r.(=) p.(=) Unknown - benign g.10906888C>T g.10796212C>T DNM2(NM_001005360.2):c.1335+13C>T - DNM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336-1085C>T r.(=) p.(=) Unknown - likely benign g.10908077C>T g.10797401C>T DNM2(NM_001005361.2):c.1218C>T (p.D406=) - DNM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1336-1085C>T r.(=) p.(=) Unknown - likely benign g.10908077C>T g.10797401C>T DNM2(NM_001005361.2):c.1218C>T (p.D406=) - DNM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1336-1012dup r.? p.? Unknown - likely pathogenic g.10908150dup g.10797474dup NM_001005361.2:c.1291dup - DNM2_000077 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1373G>A r.(?) p.(Arg458Gln) Unknown - likely pathogenic g.10909199G>A g.10798523G>A - - DNM2_000078 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1384A>G r.(?) p.(Thr462Ala) Unknown - VUS g.10909210A>G g.10798534A>G - - DNM2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - 4-generation family, 8 affecteds - - France - - 0 - - 8 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - Belgium - - 0 - - 1 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - Belgium - - 0 - - 1 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - DNA SSCA, SEQ - - CNM1 - - - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) Parent #1 - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 - - - - Germline - - - 0 - DNA PCR, SEQ - - CNM1 - - - M - United States - - 0 - - 1 Tom Winder
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown - pathogenic g.10909219C>T g.10798543C>T DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown - pathogenic g.10909219C>T g.10798543C>T DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ-NG-IT blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ-NG-IT blood - CNM1 - - - M no Japan - - - - - 1 Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ-NG-IT blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ-NG-IT blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - DNA SEQ blood - CNM1 - - - M no Japan - - - - - 1 Mariko Okubo
+?/. - c.1393C>T r.(?) p.(Arg465Trp) Unknown - likely pathogenic g.10909219C>T - DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1423-12G>A r.(=) p.(=) Unknown - benign g.10912952G>A g.10802276G>A DNM2(NM_001005360.2):c.1423-12G>A - DNM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1483G>A r.(?) p.(Gly495Arg) Maternal (confirmed) ACMG likely pathogenic (dominant) g.10913024G>A g.10802348G>A - - DNM2_000073 - - - - Germline yes - - 0 - DNA SEQ-NG - gene panel CNM1 - - - M no France - - - - - 2 Mathieu Cerino
+?/. - c.1483G>A r.(?) p.(Gly495Arg) Unknown ACMG likely pathogenic (dominant) g.10913024G>A - - - DNM2_000073 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - M no Japan - - - - - 1 Mariko Okubo
-?/. - c.1545+14C>G r.(=) p.(=) Unknown - likely benign g.10916657C>G g.10805981C>G DNM2(NM_001005360.2):c.1545+14C>G - DNM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13i c.1545+86C>G r.(=) p.(=) Parent #1 - VUS g.10916729C>G g.10806053C>G - - DNM2_000029 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1559T>G r.(?) p.(Val520Gly) Unknown ACMG pathogenic (dominant) g.10922941T>G - - - DNM2_000080 - - - - De novo - - - - - DNA SEQ-NG-IT Blood - CNM1 - - - F no Japan - - - - - 1 Mariko Okubo
+/. 15 c.1565G>A r.(?) p.(Arg522His) Parent #1 - pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 15 c.1565G>A r.(?) p.(Arg522His) Parent #1 - pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 - - - - Germline - - - 0 - DNA PCR, SEQ - - CNM1 - - - M - United States - - 0 - - 1 Tom Winder
+?/. - c.1565G>A r.(?) p.(Arg522His) Unknown - likely pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1565G>A r.(?) p.(Arg522His) Parent #1 - likely pathogenic (recessive) g.10922947G>A g.10812271G>A - - DNM2_000022 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat8 PubMed: Park 2017 - M - Korea - - 0 - - 1 Johan den Dunnen
?/. - c.1609G>A r.(?) p.(Gly537Ser) Unknown - VUS g.10922991G>A g.10812315G>A - - DNM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1609G>A r.(?) p.(Gly537Ser) Unknown ACMG VUS g.10922991G>A g.10812315G>A - - DNM2_000051 ACMG grading: PM2,PM5 - - rs121909093 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
+/. 15 c.1609G>T r.(?) p.(Gly537Cys) Parent #1 - pathogenic g.10922991G>T g.10812315G>T 1597G>T - DNM2_000010 not in 200 control chromosomes PubMed: Fabrizi 2007, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - CMT2 - - 4-generation family, 4 affecteds - - Italy - - 0 - - 4 Johan den Dunnen
+/. - c.1609G>T r.(?) p.(Gly537Cys) Unknown - pathogenic g.10922991G>T g.10812315G>T DNM2(NM_001005360.2):c.1609G>T (p.G537C) - DNM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1619A>G r.(?) p.(Glu540Gly) Unknown - VUS g.10923001A>G g.10812325A>G - - DNM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15_15i c.1664_1671+1del r.1663_1671del p.[Asp555_Glu558del, Asp555Glyfs*12] Parent #1 - pathogenic g.10923046_10923054del g.10812370_10812378del 1652_1659+1delATGAGGAGg - DNM2_000021 mapped by linkage; not in 500 control chromosomes PubMed: Zuchner 2005, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CMT2 - - 6-generation family, 21 affecteds - - United States - - 0 - - 21 Johan den Dunnen
+/. 16 c.1675_1677del r.(?) p.(Lys559del) Parent #1 - pathogenic g.10930659_10930661del g.10819983_10819985del 1675_1677delAAA - DNM2_000002 - PubMed: Bitoun 2008 - - Germline - - - 0 - DNA SEQ - - CMT2 - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 16 c.1678G>A r.(?) p.(Glu560Lys) Parent #1 - pathogenic g.10930662G>A g.10819986G>A - - DNM2_000003 - PubMed: Bitoun 2009 - - Germline - - - 0 - DNA SEQ - - CNM1 - PubMed: Bitoun 2009 - F - - African, central - 0 - - 1 Johan den Dunnen
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