All 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.

596 entries on 6 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

Effect     

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 c.-164C>T r.(=) p.(=) - benign g.149736959C>T g.150568509C>T - - MTM1_000223 - PubMed: Laporte 1998 - - Germline - - - - - Jorge Oliveira
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - - - MTM1_000001 DXS9929 detected PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - Exon 1 deletion - MTM1_000001 - PubMed: Herman 1999 - - Germline - - - - - Jorge Oliveira
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - Exon 1 deletion - MTM1_000001 - PubMed: Herman 1999 - - Germline - - - - - Jorge Oliveira
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - Exon 1 deletion - MTM1_000001 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0? - pathogenic g.(?_149737047)_(149737113_149761066)del - Exon 1 deletion - MTM1_000001 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. _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 not detected - - - Germline - - - - - Wolfram Kress
+/. _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_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_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
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - deletion all MTM1 - MTM1_000000 - PubMed: Hu 1996, PubMed: Laporte 1996; PubMed: Laporte 2000 - - Germline - - - - - Johan den Dunnen
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - - - MTM1_000000 240 Kb deletion (MTM1 absent, flanking genes CXorf6 and MTMR1 partially deleted) PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - deletion all MTM1 - MTM1_000000 - Bartsch et al., 1999; PubMed: Laporte 2000; PubMed: Tosch 2010 - - Germline - - - - - Jorge Oliveira
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - - - MTM1_000000 2.9 Mb deletion incl. AFF2_3'MTMR1; de novo, in patient L Medne ASHG 2010 A1669 - - De novo - - - - - Johan den Dunnen
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - heterozygous MTM1 deletion - MTM1_000000 - - - - Germline - - - - - Wolfram Kress
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - hemizygous MTM1 deletion - MTM1_000000 - - - - Germline - - - - - Wolfram Kress
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0? - pathogenic g.(?_149737047)_(149841616_?)del - deletion all MTM1 - MTM1_000000 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 2 c.(?_-10)_63+?del r.(?) p.0? - pathogenic g.? - Exon 2 deletion - MTM1_000003 - PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 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
+/. 2_8 c.(?_-10)_678+?del r.(?) p.0? - pathogenic g.? - Exon 2-8 deletion - MTM1_000005 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 6i_15_ c.(444+1_445-1)_*1548{0} r.? p.? ACMG likely pathogenic (recessive) g.(149787613_149807415)_(149841616_?)del g.(150619140_150638942)_(150673143_?)del del ex7-15, hg19 g.149807405-149840078del - MTM1_000342 ACMG 2B, 2D PubMed: Natera-de Benito 2021 - - Germline - - - - - Johan den Dunnen
+?/. 6i_15_ c.(444+1_445-1)_*1548{0} r.spl p.? - likely pathogenic g.(149787613_149807415)_(149841616_?)del g.(150619140_150638942)_(150673143_?)del c.(?_445)_(*1548_?)del - MTM1_000342 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - Johan den Dunnen
+?/. - c.(?_-10)_*1548{0} r.0? p.0? - pathogenic g.(?_149761067)_(149841616_?)del - - - MTM1_000339 - - - - Germline - - - - - Dèlia Yubero
+?/. _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
+/. 2 c.1A>G r.(?) p.0? - pathogenic g.149761077A>G g.150592615A>G p.Met1? - MTM1_000006 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 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
+/. 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
+/. 2 c.19del r.(?) p.(Ser7Leufs*37) - pathogenic g.149761095del g.150592633del 19delT - MTM1_000284 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 c.27T>A r.(?) p.(Tyr9*) - pathogenic g.149761103T>A g.150592641T>A - - MTM1_000008 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
-?/. - 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
+/. 2 c.27T>G r.(?) p.(Tyr9*) - pathogenic g.149761103T>G g.150592641T>G - - MTM1_000285 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 c.32C>A r.(?) p.(Ser11*) - pathogenic g.149761108C>A g.150592646C>A - - MTM1_000257 - - - - De novo - - - - - Wolfram Kress
+/. 2 c.32C>G r.(?) p.(Ser11*) - pathogenic g.149761108C>G g.150592646C>G - - MTM1_000009 - PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
?/. - 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
+/. 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 c.49G>T r.(?) p.(Glu17*) - pathogenic g.149761125G>T g.150592663G>T G103T - MTM1_000010 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 2 c.49G>T r.(?) p.(Glu17*) - pathogenic g.149761125G>T g.150592663G>T - - MTM1_000010 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 2 c.58A>T r.(?) p.(Lys20*) - pathogenic g.149761134A>T g.150592672A>T - - MTM1_000286 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 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
+/. 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 - - - - - Jorge Oliveira
+/. 2i c.63+2T>C r.1-10_63del p.(?) - pathogenic g.149761141T>C g.150592679T>C - - MTM1_000013 affects donor splice site - - - Germline - - - - - Wolfram Kress
+/. 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
?/. - 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
+/. 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
-/. 2i c.64-50A>T r.(=) p.(=) - benign g.149764912A>T g.150596448A>T - - MTM1_000021 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
?/. 2i c.64-50A>T r.(?) p.(=) - VUS g.149764912A>T g.150596448A>T - - MTM1_000021 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-?/. 2i c.64-50_64-49del r.(=) p.(=) - likely benign g.149764912_149764913del g.150596448_150596449del 64-50_64-49delAG - MTM1_000213 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
-?/. 2i c.64-50_64-49del r.(?) p.(?) - likely benign g.149764912_149764913del g.150596448_150596449del - - MTM1_000213 - - - - Germline - - - - - Wolfram Kress
-/. 2i c.64-14T>C r.(=) p.(=) - benign g.149764948T>C g.150596484T>C - - MTM1_000214 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 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
+?/. 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
+?/. 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
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T C124T - MTM1_000017 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T - - MTM1_000017 - PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T - - MTM1_000017 - PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T - - MTM1_000017 - PubMed: Bijarnia 2010 - - Germline - - - - - Jorge Oliveira
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T - - MTM1_000017 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 3 c.70C>T r.(?) p.(Arg24*) - pathogenic g.149764968C>T g.150596504C>T - - MTM1_000017 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 3 c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T C139T - MTM1_000018 de novo, in patient (maternal allele) PubMed: Tanner 1999a - - De novo - - - - - Jorge Oliveira
+/. 3 c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T C139T - MTM1_000018 - PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 3 c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T - - MTM1_000018 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T - - MTM1_000018 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 3 c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T - - MTM1_000018 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. - c.85C>T r.(?) p.(Arg29Ter) - pathogenic g.149764983C>T g.150596519C>T - - MTM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.85C>T r.(?) p.(Arg29*) - pathogenic g.149764983C>T g.150596519C>T - - MTM1_000018 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783857 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 3 c.107del r.(?) p.(Pro36Leufs*8) - pathogenic g.149765005del g.150596541del 106delC - MTM1_000019 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 c.107del r.(?) p.(Pro36Leufs*8) - pathogenic g.149765005del g.150596541del 107delC - MTM1_000019 - - - - Germline - - - - - Wolfram Kress
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - - - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T C163T - MTM1_000020 - PubMed: Laporte 1997 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T C163T - MTM1_000020 de novo, in patient (maternal allele) PubMed: Laporte 1997 - - De novo - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Laporte 2000 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Buj-Bello 1999 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 Genetic test performed in mother PubMed: Buj-Bello 1999 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Tachi 2001 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T 109C/T - MTM1_000020 - PubMed: Flex 2002 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
+/. 3 c.109C>T r.(?) p.(Arg37*) - pathogenic g.149765007C>T g.150596543C>T - - MTM1_000020 - PubMed: Biancalana 2003 - - Germline - - - - - Jorge Oliveira
?/. 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
+/. 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
+/. 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
?/. - 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
-/. - c.136+9C>T r.(=) p.(=) - 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
-?/. - c.136+9C>T r.(=) p.(=) - likely benign g.149765043C>T - MTM1(NM_000252.2):c.136+9C>T - MTM1_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.136+17A>G r.(=) p.(=) - likely benign g.149765051A>G - MTM1(NM_000252.2):c.136+17A>G - MTM1_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 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
-?/. 3i c.137-11dup r.(=) p.(=) - likely benign g.149767045dup g.150598581dup 137-11insT - MTM1_000222 - PubMed: Herman 2002 - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-11T>A r.137_231del p.Asp46Glyfs*7 - pathogenic g.149767045T>A g.150598581T>A T(191-11)A - MTM1_000025 affects acceptor splice site PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-11T>A r.137_231del p.Asp46Glyfs*7 - pathogenic g.149767045T>A g.150598581T>A T(191-11)A - MTM1_000025 affects acceptor splice site PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-11T>A r.spl? p.(=) - pathogenic g.149767045T>A g.150598581T>A - - MTM1_000025 Extremely skewed X inactivation PubMed: Flex 2002 - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-11T>A r.spl? p.(=) - pathogenic g.149767045T>A g.150598581T>A - - MTM1_000025 affects acceptor splice site - - - Germline - - - - - Wolfram Kress
+/. 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
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 affects acceptor splice site PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 affects acceptor splice site - - - Germline - - - - - Wolfram Kress
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 - PubMed: Biancalana 2003 - - Germline - - - - - Wolfram Kress
+/. 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
+/. 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
+/. 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
+/. 4 c.137-?_231+?del r.(?) p.(Asp46Glyfs*7) - pathogenic g.149767056_149767150del - - - MTM1_000036 Exon 4 deletion Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tanner 1999a - - Germline - - - - - Jorge Oliveira
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »