Unique variants in the MTM1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000252.2 transcript reference sequence.

330 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 1 c.-164C>T r.(=) p.(=) - benign g.149736959C>T g.150568509C>T - - MTM1_000223 - PubMed: Laporte 1998 - - Germline - - - - - Jorge Oliveira
+/. 6 _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - Exon 1 deletion - MTM1_000001 DXS9929 detected, DXS9929 not detected PubMed: Herman 1999, PubMed: Herman 2002, PubMed: Tanner 1999a - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 _1_5i_ c.(?_-76)_(342+1_343-1)dup r.343_444del p.Asp115_Leu148del - pathogenic g.(?_149737047)_(149783173_149787510)dup - - - MTM1_000236 duplication of exons 1-5; de novo, in patient, somatic mosaicism - - - Somatic - - - - - Jorge Oliveira
+/. 1 _1_7i c.(?_-76)_(528+1_529-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149807500_149809741)del - Exon 1-7 deletion - MTM1_000002 - PubMed: Herman 1999 - - Germline - - - - - Jorge Oliveira
+/. 1 _1_13i c.(?_-76)_(1467+1_1468-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149828958_149831905)del - Exon 1-13 deletion - MTM1_000244 (..)._(m22t_DXS1345)del PubMed: Hu 1996, PubMed: Laporte 1996, PubMed: Tosch 2010 - - Germline - - - - - Johan den Dunnen
+/. 7 _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - deletion all MTM1, hemizygous MTM1 deletion, heterozygous MTM1 deletion - MTM1_000000 2.9 Mb deletion incl. AFF2_3'MTMR1; de novo, in patient, 1 more item Bartsch et al., 1999; PubMed: Laporte 2000; PubMed: Tosch 2010, L Medne ASHG 2010 A1669, 3 more items - - De novo, Germline - - - - - Johan den Dunnen, Wolfram Kress, Jorge Oliveira
+/. 1 2 c.(?_-10)_63+?del r.(?) p.0? - pathogenic g.? - Exon 2 deletion - MTM1_000003 - PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 1 2_6 c.(?_-10)_441+?del r.1-10_441del p.0? - pathogenic g.? - Exon 2-6 deletion - MTM1_000004 - PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 1 2_8 c.(?_-10)_678+?del r.(?) p.0? - pathogenic g.? - Exon 2-8 deletion - MTM1_000005 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/., +?/. 2 6i_15_ c.(444+1_445-1)_*1548{0} r.?, r.spl p.? ACMG likely pathogenic, likely pathogenic (recessive) g.(149787613_149807415)_(149841616_?)del g.(150619140_150638942)_(150673143_?)del c.(?_445)_(*1548_?)del, del ex7-15, hg19 g.149807405-149840078del - MTM1_000342 ACMG 2B, 2D PubMed: Gonzalez-Quereda 2020, PubMed: Natera-de Benito 2021 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.(?_-10)_*1548{0} r.0? p.0? - pathogenic g.(?_149761067)_(149841616_?)del - - - MTM1_000339 - - - - Germline - - - - - Dèlia Yubero
+?/. 1 _1_15_ c.-76_*1548{0} r.0 p.0 ACMG pathogenic (recessive) g.(?_149737047)_(149841616_?)del g.(?_150568597)_(150673143_?)del del ex1-15 - MTM1_000000 ACMG 2A, 4L PubMed: Natera-de Benito 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.[1053+114_1053+2680del; 1053+3055_1053+3056ins679-82_1053+37] r.868_1053dup p.Ala290_Lys351dup - pathogenic g.? - - - MTM1_000280 complex rearrangement involving duplication of exon 10 PubMed: Trump 2012 - - Germline - - - - - Jorge Oliveira
+/. 1 2 c.1A>G r.(?) p.0? - pathogenic g.149761077A>G g.150592615A>G p.Met1? - MTM1_000006 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 2 c.2T>A r.(?) p.0? - pathogenic g.149761078T>A g.150592616T>A p.Met1? - MTM1_000253 de novo, in mother - - - Germline - - - - - Wolfram Kress
+/. 1 2 c.2T>G r.(?) p.0? - pathogenic g.149761078T>G g.150592616T>G p.Met1? - MTM1_000007 - PubMed: Herman 1999, PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 1 2 c.19del r.(?) p.(Ser7Leufs*37) - pathogenic g.149761095del g.150592633del 19delT - MTM1_000284 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 2 c.27T>A r.(?) p.(Tyr9*) - pathogenic g.149761103T>A g.150592641T>A - - MTM1_000008 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
-?/. 1 - c.27T>C r.(?) p.(Tyr9=) - likely benign g.149761103T>C g.150592641T>C MTM1(NM_000252.2):c.27T>C (p.Y9=) - MTM1_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.27T>G r.(?) p.(Tyr9*) - pathogenic g.149761103T>G g.150592641T>G - - MTM1_000285 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 2 c.32C>A r.(?) p.(Ser11*) - pathogenic g.149761108C>A g.150592646C>A - - MTM1_000257 - - - - De novo - - - - - Wolfram Kress
+/. 1 2 c.32C>G r.(?) p.(Ser11*) - pathogenic g.149761108C>G g.150592646C>G - - MTM1_000009 - PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
?/. 1 - c.38C>T r.(?) p.(Ser13Phe) - VUS g.149761114C>T - MTM1(NM_000252.2):c.38C>T (p.S13F) - MTM1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.48_49insA r.(?) p.(Glu17Argfs*4) - pathogenic g.149761124_149761125insA g.150592662_150592663insA 48-49insA - MTM1_000011 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 2 2 c.49G>T r.(?) p.(Glu17*) - pathogenic g.149761125G>T g.150592663G>T G103T - MTM1_000010 - PubMed: Biancalana 2003, PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 2 c.58A>T r.(?) p.(Lys20*) - pathogenic g.149761134A>T g.150592672A>T - - MTM1_000286 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 2i c.63+1G>A r.spl p.? - pathogenic g.149761140G>A g.150592678G>A - - MTM1_000012 affects donor splice site PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
+/. 2 2i c.63+2T>C r.1-10_63del p.(?) - pathogenic g.149761141T>C g.150592679T>C - - MTM1_000013 affects donor splice site PubMed: Herman 1999, PubMed: Herman 2002 - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 2i c.63+2T>G r.spl p.? - pathogenic g.149761141T>G g.150592679T>G - - MTM1_000014 affects donor splice site PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
?/. 1 - c.63+7del r.(=) p.(=) - VUS g.149761146del g.150592684del MTM1(NM_000252.2):c.63+6del (p.(=)) - MTM1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2i_14i c.63+834_1645-2104del r.(?) p.(Thr22_Gln548del) - pathogenic g.149761973_149837797del g.150593511_150669324del - - MTM1_000016 75 kb deletion (exons 3-14); de novo, in patient - - - De novo - - - - - Jorge Oliveira
-/., ?/. 2 2i c.64-50A>T r.(=), r.(?) p.(=) - benign, VUS g.149764912A>T g.150596448A>T - - MTM1_000021 - from website {DBsub-Emory}, PubMed: Laporte 1997 - - Germline, Unknown - - - - - Madhuri Hegde, Jorge Oliveira
-?/. 2 2i c.64-50_64-49del r.(=), r.(?) p.(=), p.(?) - likely benign g.149764912_149764913del g.150596448_150596449del 64-50_64-49delAG - MTM1_000213 - PubMed: Laporte 1997 - - Germline - - - - - Wolfram Kress, Jorge Oliveira
-/. 1 2i c.64-14T>C r.(=) p.(=) - benign g.149764948T>C g.150596484T>C - - MTM1_000214 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 2i c.64-2A>G r.spl p.? - pathogenic g.149764960A>G g.150596496A>G - - MTM1_000015 affects acceptor splice site PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+?/. 2 2i_14i c.(63+1_64-1)_(1644+1_1645-1)del r.? p.? ACMG pathogenic (recessive) g.(149761140_149764961)_(149832083_149839900)del g.(150592678_150596497)_(150663610_150671427)del del ex3-14 hg19 g.149761973_149837797del - MTM1_000343 ACMG 2B, 2E, 4L PubMed: Natera-de Benito 2021 - - Germline - - - - - Johan den Dunnen
+/. 6 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T C124T - MTM1_000017 - from website {DBsub-Emory}, PubMed: Biancalana 2003, PubMed: Bijarnia 2010, PubMed: Laporte 1997, 1 more item - - Germline, Unknown - - - - - Madhuri Hegde, Jorge Oliveira
+/. 7 3 c.85C>T r.(?) p.(Arg29*), p.(Arg29Ter) - pathogenic g.149764983C>T g.150596519C>T C139T - MTM1_000018 1 heterozygous, no homozygous; Clinindb (India), de novo, in patient (maternal allele), 1 more item PubMed: Biancalana 2003, PubMed: Herman 2002, PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs587783857 CLASSIFICATION record, De novo, Germline - 1/2795 individuals - - - Jorge Oliveira, VKGL-NL_Nijmegen, Mohammed Faruq
+/. 2 3 c.107del r.(?) p.(Pro36Leufs*8) - pathogenic g.149765005del g.150596541del 106delC, 107delC - MTM1_000019 - PubMed: Herman 2002 - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 12 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T 109C/T, C163T - MTM1_000020 de novo, in patient (maternal allele), Genetic test performed in mother PubMed: Biancalana 2003, PubMed: Buj-Bello 1999, PubMed: Flex 2002, PubMed: Herman 2002, 4 more items - - De novo, Germline - - - - - Jorge Oliveira
?/. 1 3 c.122A>G r.(?) p.(Glu41Gly) - VUS g.149765020A>G g.150596556A>G - - MTM1_000287 conserved residue (up to C. elegans) from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 3i c.136+1G>A r.spl p.? - pathogenic g.149765035G>A g.150596571G>A - - MTM1_000022 affects donor splice site, genetic test performed in mother PubMed: Buj-Bello 1999 - - Germline - - - - - Jorge Oliveira
+/. 1 3i c.136+1G>C r.spl p.? - pathogenic g.149765035G>C g.150596571G>C - - MTM1_000023 affects donor splice site PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
?/. 1 - c.136+5G>A r.spl? p.? - VUS g.149765039G>A - MTM1(NM_000252.2):c.136+5G>A - MTM1_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.136+9C>T r.(=) p.(=) - benign, likely benign g.149765043C>T g.150596579C>T MTM1(NM_000252.2):c.136+9C>T - MTM1_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 3i c.137-19_137-16del r.137_231del p.Asp46Glyfs*7 - pathogenic g.149767037_149767040del g.150598573_150598576del (191-19)delACTT - MTM1_000024 de novo, in mother (grandpaternal allele) PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
-?/. 1 3i c.137-11dup r.(=) p.(=) - likely benign g.149767045dup g.150598581dup 137-11insT - MTM1_000222 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 4 3i c.137-11T>A r.137_231del, r.spl? p.(=), p.Asp46Glyfs*7 - pathogenic g.149767045T>A g.150598581T>A T(191-11)A - MTM1_000025 affects acceptor splice site, Extremely skewed X inactivation PubMed: Flex 2002, PubMed: Tanner 1999a - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 3i c.137-7T>G r.137_231del p.Asp46Glyfs*7 - pathogenic g.149767049T>G g.150598585T>G - - MTM1_000211 affects acceptor splice site PubMed: Herman 1999, PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 affects acceptor splice site PubMed: Biancalana 2003, PubMed: Tsai 2005 - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 3i c.137-3T>A r.spl? p.? - pathogenic g.149767053T>A g.150598589T>A T(191-3)A - MTM1_000028 affects acceptor splice site, genetic test performed in mother PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 1 3i c.137-3_137del r.spl? p.? - pathogenic g.149767053_149767056del g.150598589_150598592del (191-4)delATAG - MTM1_000026 affects acceptor splice site PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 3i c.137-2A>T r.spl p.? - pathogenic g.149767054A>T g.150598590A>T - - MTM1_000029 affects acceptor splice site PubMed: Buj-Bello 1999 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.137-?_231+?del r.(?) p.(Asp46Glyfs*7) - pathogenic g.149767056_149767150del - - - MTM1_000036 1 more item PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 4 4 c.139_141del r.(?) p.(Lys47del) - pathogenic g.149767058_149767060del g.150598594_150598596del -, 139-141delAAA, 193delAAA - MTM1_000037 conserved residue (hMTMR1/2, C. elegans), 2 more items PubMed: Biancalana 2003, PubMed: Laporte 1997, PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
+/., +?/. 16 4 c.141_144del r.(?) p.(Glu48Leufs*24) ACMG likely pathogenic, pathogenic g.149767060_149767063del g.150598596_150598599del 141-144delAGAA, 141_144delAGAA, D193-196 AAAG - MTM1_000040 ACMG grading: PVS1,PM2, ACMG grading: PVS1,PM2,PP5, de novo, in patient, 1 more item de Gouyon BM et al. 1997. Hum Mol Genet 6: 1499-504, from website {DBsub-Emory}, PubMed: Laporte 1997, 7 more items - rs587783791 De novo, Germline, Unknown - - - - - Madhuri Hegde, Jorge Oliveira, Andreas Laner
+/. 1 4 c.142dup r.(?) p.(Glu48Lysfs*13) - pathogenic g.149767061dup g.150598597dup 141-142insG - MTM1_000042 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 4 c.142G>T r.(?) p.(Glu48*) - pathogenic g.149767061G>T g.150598597G>T G196T - MTM1_000030 de novo, in mother PubMed: Herman 1999, PubMed: Herman 2002, PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.142_143del r.(?) p.(Glu48Serfs*12) - pathogenic g.149767061_149767062del g.150598597_150598598del 141-142delAG - MTM1_000039 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.145G>T r.(?) p.(Val49Phe) - pathogenic g.149767064G>T g.150598600G>T - - MTM1_000031 not in 100 control chromosomes; conserved residue (mouse, Drosophila, hMTMR1) PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 1 - c.154del r.(?) p.(Ile52Tyrfs*21) - pathogenic g.149767073del g.150598609del - - MTM1_000327 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783804 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. 1 - c.172C>T r.(?) p.(Pro58Ser) - VUS g.149767091C>T g.150598627C>T MTM1(NM_000252.2):c.172C>T (p.P58S) - MTM1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.176T>C r.(?) p.(Ile59Thr) - likely benign g.149767095T>C - MTM1(NM_000252.2):c.176T>C (p.I59T) - MTM1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 4 c.181G>T r.(?) p.(Gly61*) - pathogenic g.149767100G>T g.150598636G>T - - MTM1_000043 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.184A>T r.(?) p.(Arg62*) - pathogenic g.149767103A>T g.150598639A>T - - MTM1_000032 - PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.202T>G r.(?) p.(Tyr68Asp) - pathogenic g.149767121T>G g.150598657T>G - - MTM1_000044 conserved residue (hMTMR2, S. pombe, Drosophila, C. elegans) PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.205C>A r.(?) p.(Arg69Ser) - pathogenic g.149767124C>A g.150598660C>A - - MTM1_000045 conserved residue (hMTMR2, Drosophila, C. elegans) PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 10 4 c.205C>T r.(?), r.[205c>u,137_231del] p.(Arg69Cys), p.[Arg69Cys,Asp46Glyfs*7] - pathogenic g.149767124C>T g.150598660C>T 259C-T - MTM1_000033 affects CpG; not conserved at lower eukaryotes; alters charge of the aminoacid, 2 more items PubMed: de Gouyon 1997, OMIM:var0003, PubMed: Herman 2002, PubMed: Laporte 1997, OMIM:var0003, 2 more items - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 4 c.205_206delinsAACT r.(?) p.(Arg69Asnfs*5) - pathogenic g.149767124_149767125delinsAACT g.150598660_150598661delinsAACT - - MTM1_000232 - PubMed: Bevilacqua 2009 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.206G>C r.(?) p.(Arg69Pro) - pathogenic g.149767125G>C g.150598661G>C - - MTM1_000034 Not conserved at lower eukaryotes PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/., ?/. 3 4 c.208C>T r.(?) p.(Leu70Phe) - pathogenic, VUS g.149767127C>T g.150598663C>T C262T - MTM1_000035 not in 40 control chromosomes; conserved residue (yeast), VKGL data sharing initiative Nederland PubMed: Biancalana 2003, PubMed: Laporte 1997, PubMed: Barth 1998, PubMed: Laporte 2000 - - CLASSIFICATION record, Germline - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
+/. 1 4 c.213_216del r.(?) p.(Tyr71*) - pathogenic g.149767132_149767135del g.150598668_150598671del 266delATTT - MTM1_000046 Grandmaternal mosaicism, Genetic test performed in mother PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 4 c.230del r.(?) p.(Thr77Argfs*5) - pathogenic g.149767149del g.150598685del 230delC - MTM1_000047 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 4i c.231+1G>T r.spl p.? - pathogenic g.149767151G>T g.150598687G>T - - MTM1_000250 affects donor splice site - - - Germline - - - - - Wolfram Kress
-?/. 1 4i c.232-28C>T r.(=) p.(=) - likely benign g.149783034C>T g.150614561C>T - - MTM1_000221 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 2 4i_5 c.232-5_239delinsGTAA r.spl? p.? - pathogenic g.149783057_149783069delinsGTAA g.150614584_150614596delinsGTAA - - MTM1_000048 affects acceptor splice site PubMed: Schultz 2005 - - Germline - - - - - Wolfram Kress, Jorge Oliveira
+/. 1 4i c.232-3C>A r.spl? p.? - pathogenic g.149783059C>A g.150614586C>A - - MTM1_000212 affects acceptor splice site PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 1 4i c.232-2A>C r.spl p.? - pathogenic g.149783060A>C g.150614587A>C - - MTM1_000187 affects acceptor splice site PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 1 4i c.232-1G>A r.spl p.? - pathogenic g.149783061G>A g.150614588G>A - - MTM1_000267 affects acceptor splice site PubMed: Pierson 2007 - - Germline - - - - - Jorge Oliveira
+/. 1 5 c.232-?_342+?del r.(?) p.(Asp78_Lys114del) - pathogenic g.149783062_149783172del - EX5del - MTM1_000277 1 more item PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 5_6 c.232-?_444+?del r.(?) p.(Asp78_Leu148del) - pathogenic g.149783062_149787612del - Exon 5-6 deletion - MTM1_000049 1 more item PubMed: de Gouyon 1997 - - Germline - - - - - Jorge Oliveira
+?/. 1 5 c.232G>T r.(?) p.(Asp78Tyr) - likely pathogenic g.149783062G>T g.150614589G>T - - MTM1_000050 not in 220 control chromosomes; residue conserved in vertebrate species - - - Germline - - HinfI - - Jorge Oliveira
+/. 1 5 c.260T>C r.(?) p.(Leu87Pro) - pathogenic g.149783090T>C g.150614617T>C T314C - MTM1_000051 - PubMed: Laporte 1997 - - Germline - - - - - Wolfram Kress
+/. 2 5 c.286dup r.(?) p.(Met96Asnfs*7) - pathogenic g.149783116dup g.150614643dup 340insA, 340insA, frameshift 96 - MTM1_000052 - PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 1 5 c.296_297dup r.(?) p.(Thr100Argfs*11) - pathogenic g.149783126_149783127dup g.150614653_150614654dup 351insCG - MTM1_000053 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 5 c.321T>A r.(?) p.(Tyr107*) - pathogenic g.149783151T>A g.150614678T>A 375T-A - MTM1_000054 - PubMed: de Gouyon 1997 - - Germline - - - - - Jorge Oliveira
+?/. 1 5 c.323G>A r.(?) p.(Gly108Asp) - likely pathogenic g.149783153G>A g.150614680G>A - - MTM1_000252 - - - - De novo - - - - - Wolfram Kress
-?/. 1 - c.339T>C r.(?) p.(Cys113=) - likely benign g.149783169T>C g.150614696T>C MTM1(NM_000252.2):c.339T>C (p.C113=) - MTM1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.342_342+4del r.spl? p.? - pathogenic g.149783172_149783176del g.150614699_150614703del delta392ñ396 GTAAA - MTM1_000055 affects donor splice site PubMed: de Gouyon 1997 - - Germline - - - - - Jorge Oliveira
+?/. 1 - c.342+4A>G r.spl? p.? - likely pathogenic g.149783176A>G g.150614703A>G - - MTM1_000328 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783820 Germline - 9/2667 individuals - - - Mohammed Faruq
+?/. 1 5i c.342+5G>A r.232_342del p.Ser79_Asp115del - likely pathogenic g.149783177G>A g.150614704G>A - - MTM1_000235 affects donor splice site - - - Germline - - - - - Wolfram Kress
+/. 1 5i c.343-2A>C r.spl p.? - pathogenic g.149787509A>C g.150619036A>C A(397-2)C - MTM1_000056 affects acceptor splice site PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 6_11 c.343-?_1260+?del r.(?) p.(Asp115_Ser420del) - pathogenic g.149787511_149826500del - - - MTM1_000057 1 more item PubMed: de Gouyon 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 6 c.377_378insT r.(?) p.(Glu126Aspfs*10) - pathogenic g.149787545_149787546insT g.150619072_150619073insT 377insT - MTM1_000058 de novo, in patient (maternal allele) PubMed: Biancalana 2003 - - De novo - - - - - Jorge Oliveira
+/. 1 6 c.386_387insA r.(?) p.(Ser129Argfs*7) - pathogenic g.149787554_149787555insA g.150619081_150619082insA A insertion at nucleotide 440 - MTM1_000228 de novo, in patient PubMed: Tachi 2001 - - De novo - - - - - Jorge Oliveira
+/. 2 6 c.391del r.(?) p.(Arg131Glufs*24) - pathogenic g.149787559del g.150619086del 391delA, Frameshift 131 - MTM1_000059 - Oberle 1998, PubMed: Laporte 2000, PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
+/. 1 6 c.397_398del r.(?) p.(Met133Valfs*2) - pathogenic g.149787565_149787566del g.150619092_150619093del 451delAT - MTM1_000060 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 1 - c.414_421dup r.(?) p.(Ala141Glyfs*17) ACMG pathogenic g.149787582_149787589dup g.150619109_150619116dup 414_421dupGAGATACG - MTM1_000347 - - - - Germline/De novo (untested) - - - - - Ponghatai Damrongphol
+/. 1 6 c.417A>G r.spl? p.(Arg139=) - pathogenic g.149787585A>G g.150619112A>G - - MTM1_000061 Creates a new acceptor splice site; de novo, in patient (maternal allele) PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 1 6 c.420C>G r.(?) p.(Tyr140*) - pathogenic g.149787588C>G g.150619115C>G - - MTM1_000289 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
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