Full data view for gene DMPK

Information The variants shown are described using the NM_004409.3 transcript reference sequence.

134 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.*224_*283CTG[(150_?)] r.? p.? Unknown - pathogenic (dominant) g.46273465_46273524GCA[(150_?)] g.45770207_45770266GCA[(150_?)] CTG (n>150) repeat - DMPK_000079 - PubMed: Imafidon 2021 - - Germline/De novo (untested) - - - - - DNA arraySNP, SEQ-NG - gene panel ? Pat673 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound, NIPT M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.-4288C>A r.(?) p.(=) Unknown - VUS g.46289898G>T g.45786640G>T DMWD(NM_004943.2):c.856C>A (p.P286T) - DMPK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-61C>T r.(?) p.(=) Unknown - VUS g.46285671G>A - DMPK(NM_001288764.2):c.-42C>T - DMPK_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9C>T r.(?) p.(Ala3=) Unknown - VUS g.46285602G>A - DMPK(NM_001288764.1):c.28C>T (p.R10*) - DMPK_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78C>T r.(?) p.(Leu26=) Unknown - VUS g.46285533G>A - DMPK(NM_001288764.1):c.97C>T (p.R33*) - DMPK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85C>T r.(?) p.(Leu29Phe) Unknown - likely benign g.46285526G>A g.45782268G>A DMPK(NM_001081560.1):c.85C>T (p.(Leu29Phe)) - DMPK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88C>T r.(?) p.(=) Unknown - likely benign g.46285523G>A - DMPK(NM_001288764.2):c.107C>T (p.(Pro36Leu)) - DMPK_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.93C>T r.(?) p.(=) Unknown - VUS g.46285518G>A - DMPK(NM_001288764.2):c.112C>T (p.R38C) - DMPK_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(=) Unknown - likely benign g.46285497G>A - DMPK(NM_001288764.2):c.133C>T (p.(Leu45Phe)) - DMPK_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.117C>T r.(?) p.(Ser39=) Unknown - VUS g.46285494G>A - DMPK(NM_001288764.2):c.136C>T (p.R46*) - DMPK_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.144C>T r.(?) p.(Ala48=) Unknown - VUS g.46285467G>A - DMPK(NM_001288764.1):c.163C>T (p.R55*) - DMPK_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-459C>T r.(=) p.(=) Unknown - likely benign g.46283586G>A g.45780328G>A DMPK(NM_001288764.1):c.233C>T (p.S78F), DMPK(NM_001288764.2):c.233C>T (p.S78F) - DMPK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-459C>T r.(=) p.(=) Unknown - likely benign g.46283586G>A g.45780328G>A DMPK(NM_001288764.1):c.233C>T (p.S78F), DMPK(NM_001288764.2):c.233C>T (p.S78F) - DMPK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.161-454G>A r.(=) p.(=) Unknown - benign g.46283581C>T g.45780323C>T DMPK(NM_001288764.1):c.238G>A (p.A80T) - DMPK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-131G>T r.(=) p.(=) Unknown - likely benign g.46283258C>A g.45780000C>A DMPK(NM_001081563.2):c.60G>T (p.W20C) - DMPK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161-58dup r.(=) p.(=) Unknown - VUS g.46283189dup g.45779931dup DMPK(NM_001081563.1):c.133dupC (p.(Leu45ProfsTer9)), DMPK(NM_001081563.2):c.133dupC (p.L45Pfs*9) - DMPK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-58dup r.(=) p.(=) Unknown - likely benign g.46283189dup g.45779931dup DMPK(NM_001081563.1):c.133dupC (p.(Leu45ProfsTer9)), DMPK(NM_001081563.2):c.133dupC (p.L45Pfs*9) - DMPK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-46G>A r.(=) p.(=) Unknown - likely benign g.46283173C>T - DMPK(NM_001081563.1):c.145G>A (p.(Ala49Thr)) - DMPK_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161-3dup r.spl? p.? Unknown - VUS g.46283136dup g.45779878dup DMPK(NM_001081563.2):c.188dupC (p.A64Sfs*9) - DMPK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161-3dup r.spl? p.? Unknown - VUS g.46283136dup g.45779878dup DMPK(NM_001081563.2):c.188dupC (p.A64Sfs*9) - DMPK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>A r.(?) p.(Gly78Glu) Unknown - VUS g.46283055C>T - DMPK(NM_004409.3):c.233G>A (p.(Gly78Glu)) - DMPK_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.252+5G>A r.spl? p.? Unknown - VUS g.46283031C>T - DMPK(NM_001081563.2):c.282+5G>A - DMPK_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252+7C>G r.(=) p.(=) Unknown - likely benign g.46283029G>C - DMPK(NM_004409.5):c.252+7C>G - DMPK_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305T>C r.(?) p.(Met102Thr) Unknown - VUS g.46282728A>G g.45779470A>G DMPK(NM_001081563.2):c.335T>C (p.M112T) - DMPK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Arg117His) Unknown - VUS g.46282604C>T - DMPK(NM_001081563.2):c.380G>A (p.R127H) - DMPK_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364G>A r.(?) p.(Val122Met) Unknown - VUS g.46282590C>T g.45779332C>T DMPK(NM_001081560.1):c.364G>A (p.(Val122Met)) - DMPK_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.409G>A r.(?) p.(Ala137Thr) Unknown - likely benign g.46282545C>T g.45779287C>T DMPK(NM_001081560.1):c.409G>A (p.(Ala137Thr)) - DMPK_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432+19T>G r.(=) p.(=) Unknown - benign g.46282503A>C g.45779245A>C DMPK(NM_001081563.2):c.462+19T>G - DMPK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456G>A r.(?) p.(Val152=) Unknown - benign g.46281876C>T g.45778618C>T DMPK(NM_001081563.2):c.486G>A (p.V162=), DMPK(NM_004409.5):c.456G>A (p.(Val152=)) - DMPK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456G>A r.(?) p.(Val152=) Unknown - likely benign g.46281876C>T - DMPK(NM_001081563.2):c.486G>A (p.V162=), DMPK(NM_004409.5):c.456G>A (p.(Val152=)) - DMPK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Gly153=) Unknown - likely benign g.46281873G>A g.45778615G>A DMPK(NM_001081563.2):c.489C>T (p.G163=) - DMPK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504G>A r.(?) p.(Pro168=) Unknown - benign g.46281828C>T g.45778570C>T DMPK(NM_001081563.2):c.534G>A (p.P178=) - DMPK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538G>A r.(?) p.(Val180Ile) Unknown - VUS g.46281794C>T g.45778536C>T DMPK(NM_001081563.2):c.568G>A (p.V190I) - DMPK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565C>T r.(?) p.(Leu189Phe) Unknown - VUS g.46281767G>A - DMPK(NM_004409.3):c.565C>T (p.(Leu189Phe)) - DMPK_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.581+6T>C r.(=) p.(=) Unknown - benign g.46281745A>G g.45778487A>G DMPK(NM_001081563.2):c.611+6T>C - DMPK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.581+6T>C r.(=) p.(=) Unknown - benign g.46281745A>G g.45778487A>G DMPK(NM_001081563.2):c.611+6T>C - DMPK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674C>T r.(?) p.(Thr225Met) Unknown - VUS g.46281386G>A - DMPK(NM_001081563.2):c.704C>T (p.T235M) - DMPK_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675G>A r.(?) p.(Thr225=) Unknown - likely benign g.46281385C>T - DMPK(NM_001081563.2):c.705G>A (p.T235=) - DMPK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.882+8C>T r.(=) p.(=) Unknown - benign g.46280917G>A g.45777659G>A DMPK(NM_001081563.2):c.912+8C>T - DMPK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882+8C>T r.(=) p.(=) Unknown - likely benign g.46280917G>A g.45777659G>A DMPK(NM_001081563.2):c.912+8C>T - DMPK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.893C>G r.(?) p.(Ser298Cys) Unknown - benign g.46280838G>C g.45777580G>C DMPK(NM_001081563.2):c.923C>G (p.S308C) - DMPK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely benign g.46280799C>T g.45777541C>T DMPK(NM_001081563.2):c.962G>A (p.R321Q) - DMPK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014C>T r.(?) p.(Phe338=) Unknown - likely benign g.46280717G>A - DMPK(NM_001081563.2):c.1044C>T (p.F348=) - DMPK_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147-5C>T r.spl? p.? Unknown - likely benign g.46278297G>A - DMPK(NM_001081563.2):c.1177-5C>T - DMPK_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158G>A r.(?) p.(Ser386=) Unknown - likely benign g.46278281C>T - DMPK(NM_001081563.2):c.1188G>A (p.S396=) - DMPK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1178C>T r.(?) p.(Pro393Leu) Unknown - likely benign g.46278261G>A - DMPK(NM_001081563.2):c.1208C>T (p.P403L) - DMPK_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1267C>G r.(?) p.(Leu423Val) Unknown - benign g.46275976G>C g.45772718G>C DMPK(NM_001081563.2):c.1297C>G (p.L433V) - DMPK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460G>T r.(?) p.(Arg487Leu) Unknown - VUS g.46275071C>A g.45771813C>A DMPK(NM_001081563.2):c.1490G>T (p.R497L) - DMPK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477C>T r.(?) p.(Arg493Cys) Unknown - VUS g.46275054G>A g.45771796G>A DMPK(NM_001081563.2):c.1507C>T (p.R503C) - DMPK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477C>T r.(?) p.(Arg493Cys) Unknown - VUS g.46275054G>A - DMPK(NM_001081563.2):c.1507C>T (p.R503C) - DMPK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1510C>T r.(?) p.(Arg504Cys) Unknown - likely benign g.46274916G>A g.45771658G>A DMPK(NM_004409.3):c.1510C>T (p.(Arg504Cys)) - DMPK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1539A>C r.(?) p.(Leu513=) Unknown - likely benign g.46274887T>G g.45771629T>G DMPK(NM_001081563.2):c.1569A>C (p.L523=) - DMPK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1601-7C>T r.(=) p.(=) Unknown - likely benign g.46274661G>A g.45771403G>A DMPK(NM_001081563.2):c.1631-7C>T - DMPK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13_15 c.(1638_*526)insN[(600_?)] r.(?) p.(=) Paternal (confirmed) - pathogenic (dominant) g.(46273220_46274617)insN[(600_?)] g.(45769962_45771359)insN[(600_?)] BamHI >0.6 kb expansion - DMPK_000066 - PubMed: Nokelainen 2000 - - Germline - - - - - DNA Southern - - ? patient PubMed: Nokelainen 2000 2-generation family, 1 affected (DM + EPM), DM affected father F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1678C>T r.(?) p.(Gln560Ter) Unknown - VUS g.46274288G>A - DMPK(NM_001081563.2):c.1708C>T (p.Q570*) - DMPK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1723C>T r.(?) p.(Leu575=) Unknown - likely benign g.46274243G>A - DMPK(NM_001081563.2):c.1753C>T (p.L585=) - DMPK_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1808C>T r.(?) p.(Ala603Val) Unknown - VUS g.46273828G>A - DMPK(NM_001081563.2):c.1838C>T (p.A613V) - DMPK_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1815C>G r.(?) p.(Gly605=) Unknown - likely benign g.46273821G>C g.45770563G>C DMPK(NM_001081560.1):c.1800C>G (p.(=)) - DMPK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848C>T r.(?) p.(Leu616=) Unknown - likely benign g.46273788G>A g.45770530G>A DMPK(NM_001081562.3):c.1829C>T (p.S610L) - DMPK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*224_*283CTG[263] r.? p.? Parent #1 - pathogenic (dominant) g.46273465_46273524GCA[263] g.45770207_45770266GCA[263] CTG[263] - DMPK_000076 - PubMed: Granger 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP Pat5 PubMed: Granger 2022 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.*224_*283CTG[4]CCGCTG[14]CTG[5] r.*224_*283CTG[4]CCGCTG[14]CTG[5] p.(=?) Unknown - likely benign g.46273465_46273524delinsGCA[5]GCGGCA[14]GCA[4] g.45770207_45770266delinsGCA[5]GCGGCA[14]GCA[4] - - DMPK_000092 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - M - Netherlands - - - - - 1 Hilde Swinkels
-/. - c.*224_*283CTG[4]CCGCTG[16]CTG[5] r.*224_*283CTG[4]CCGCTG[16]CTG[5] p.(=?) Unknown - likely benign g.46273465_46273524delinsGCA[5]GCGGCA[16]GCA[4] g.45770207_45770266delinsGCA[5]GCGGCA[16]GCA[4] - - DMPK_000095 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - M - Netherlands - - - - - 1 Hilde Swinkels
-/. - c.*224_*283CTG[6]CCGCTG[13]CTG[5] r.*224_*283CTG[6]CCGCTG[13]CTG[5] p.(=?) Unknown - likely benign g.46273465_46273524delinsGCA[5]GCGGCA[13]GCA[6] g.45770207_45770266delinsGCA[5]GCGGCA[13]GCA[6] - - DMPK_000093 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - M - Netherlands - - - - - 1 Hilde Swinkels
-/. - c.*224_*283CTG[6]CCGCTG[14]CTG[5] r.*224_*283CTG[6]CCGCTG[14]CTG[5] p.(=?) Unknown - likely benign g.46273465_46273524delinsGCA[5]GCGGCA[14]GCA[6] g.45770207_45770266delinsGCA[5]GCGGCA[14]GCA[6] - - DMPK_000094 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - M - Netherlands - - - - - 1 Hilde Swinkels
-/. - c.*224_*283CTG[6]CCGCTG[15]CTG[5] r.*224_*283CTG[6]CCGCTG[15]CTG[5] p.=? Unknown - likely benign g.46273465_46273524delinsGCA[5]GCGGCA[15]GCA[6] g.45770207_45770266delinsGCA[5]GCGGCA[15]GCA[6] - - DMPK_000096 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - M - Netherlands - - - - - 1 Hilde Swinkels
-/. - c.*224_*283CTG[6]CCGCTG[17]CTG[3] r.*224_*283CTG[6]CCGCTG[17]CTG[3] p.(=?) Unknown - likely benign g.46273465_46273524delinsGCA[3]GCGGCA[17]GCA[6] g.45770207_45770266delinsGCA[3]GCGGCA[17]GCA[6] - - DMPK_000097 - Swinkels et al. 2025, submitted - - Germline - - - - - DNA PCR, PCRrp, SEQ, SEQ-PB - - DM1 - Swinkels et al. 2025, submitted - F - Netherlands - - - - - 1 Hilde Swinkels
+/. - c.*224_*283CTG[723] r.? p.? Maternal (confirmed) - pathogenic (dominant) g.46273465_46273524GCA[723] g.45770207_45770266GCA[263] CTG[723] - DMPK_000077 mother carries CTG[70] PubMed: Granger 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP Pat7 PubMed: Granger 2022 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.*1686G>A r.(=) p.(=) Unknown - likely benign g.46272060C>T g.45768802C>T SIX5(NM_175875.4):c.43G>A (p.(Gly15Arg)) - DMPK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1686G>T r.(=) p.(=) Unknown - VUS g.46272060C>A g.45768802C>A SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp)) - SIX5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1724G>A r.(=) p.(=) Unknown - likely benign g.46272022C>T g.45768764C>T SIX5(NM_175875.4):c.81G>A (p.E27=) - SIX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1790_*1792dup r.(=) p.(=) Unknown - VUS g.46271966_46271968dup - SIX5(NM_175875.4):c.147_149dupGGC (p.(Ala50dup)) - DMPK_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1799_*1804dup r.(=) p.(=) Unknown - benign g.46271951_46271956dup - SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup) - DMPK_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1799_*1804dup r.(=) p.(=) Unknown - benign g.46271951_46271956dup - SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup) - DMPK_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1856G>T r.(=) p.(=) Unknown - likely benign g.46271890C>A g.45768632C>A SIX5(NM_175875.4):c.213G>T (p.G71=) - DMPK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1867A>C r.(=) p.(=) Unknown - likely benign g.46271879T>G g.45768621T>G SIX5(NM_175875.4):c.224A>C (p.E75A) - DMPK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1869G>C r.(=) p.(=) Unknown - likely benign g.46271877C>G g.45768619C>G SIX5(NM_175875.4):c.226G>C (p.A76P) - DMPK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2018G>C r.(=) p.(=) Unknown - likely benign g.46271728C>G - SIX5(NM_175875.4):c.375G>C (p.P125=) - DMPK_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2019G>A r.(=) p.(=) Unknown - likely benign g.46271727C>T - SIX5(NM_175875.4):c.376G>A (p.V126M) - DMPK_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2226C>T r.(=) p.(=) Unknown - VUS g.46271520G>A - SIX5(NM_175875.4):c.583C>T (p.P195S) - DMPK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2279C>T r.(=) p.(=) Unknown - likely benign g.46271467G>A - SIX5(NM_175875.4):c.636C>T (p.S212=) - DMPK_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2371C>T r.(=) p.(=) Unknown - VUS g.46271375G>A - SIX5(NM_175875.4):c.728C>T (p.(Thr243Met)) - DMPK_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2375G>A r.(=) p.(=) Unknown - benign g.46271371C>T g.45768113C>T SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2375G>A r.(=) p.(=) Unknown - likely benign g.46271371C>T g.45768113C>T SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2375G>A r.(=) p.(=) Unknown - benign g.46271371C>T - SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3323C>T r.(=) p.(=) Unknown - VUS g.46270423G>A - SIX5(NM_175875.5):c.804-10C>T - DMPK_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3340G>A r.(=) p.(=) Unknown - likely benign g.46270406C>T - SIX5(NM_175875.4):c.811G>A (p.D271N) - DMPK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3363C>A r.(=) p.(=) Unknown - VUS g.46270383G>T - SIX5(NM_175875.5):c.834C>A (p.(Asp278Glu)) - DMPK_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3408A>G r.(=) p.(=) Unknown - likely benign g.46270338T>C - SIX5(NM_175875.4):c.879A>G (p.P293=) - DMPK_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3415G>A r.(=) p.(=) Unknown - likely benign g.46270331C>T g.45767073C>T SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr)) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3415G>A r.(=) p.(=) Unknown - likely benign g.46270331C>T g.45767073C>T SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr)) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3415G>A r.(=) p.(=) Unknown - VUS g.46270331C>T - SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr)) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3476C>G r.(=) p.(=) Unknown - VUS g.46270270G>C g.45767012G>C SIX5(NM_175875.4):c.947C>G (p.P316R) - DMPK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3543C>A r.(=) p.(=) Unknown - likely benign g.46270203G>T g.45766945G>T SIX5(NM_175875.4):c.1014C>A (p.L338=) - DMPK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3543C>A r.(=) p.(=) Unknown - likely benign g.46270203G>T - SIX5(NM_175875.4):c.1014C>A (p.L338=) - DMPK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3620G>T r.(=) p.(=) Unknown - VUS g.46270126C>A g.45766868C>A SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3620G>T r.(=) p.(=) Unknown - likely benign g.46270126C>A g.45766868C>A SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3620G>T r.(=) p.(=) Unknown - likely benign g.46270126C>A - SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3713T>C r.(=) p.(=) Unknown - VUS g.46270033A>G - SIX5(NM_175875.4):c.1184T>C (p.L395P) - DMPK_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3715G>T r.(=) p.(=) Unknown - pathogenic g.46270031C>A g.45766773C>A SIX5(NM_175875.4):c.1186G>T (p.E396*) - DMPK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3895C>T r.(=) p.(=) Unknown - likely benign g.46269851G>A - SIX5(NM_175875.4):c.1366C>T (p.L456F) - DMPK_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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