Unique variants in the MYOT 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_006790.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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 - c.-13375330_*8494211dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
-/. 1 1 c.-251A>G r.(?) p.(=) - benign g.137203603A>G g.137867914A>G - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.-214C>T r.(?) p.(=) - VUS g.137203640C>T g.137867951C>T - - MYOT_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 1 c.-124T>G r.(?) p.(=) - benign g.137206217T>G g.137870528T>G - - MYOT_000004 sequence comparison - - - Germline - 6/50 - - - Johan den Dunnen
+/. 1 - c.17G>A r.(?) p.(Arg6His) - pathogenic (dominant) g.137206357G>A g.137870668G>A n.17G>A - MYOT_000036 not in 210 control chromosomes PubMed: Reilich 2011 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 2 c.34C>G r.(?) p.(Gln12Glu) - VUS g.137206374C>G g.137870685C>G - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2 c.106A>G r.(?) p.(Lys36Glu) - pathogenic (dominant) g.137206446A>G g.137870757A>G - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - - - Johan den Dunnen
+/. 3 2 c.116C>T r.(?) p.(Ser39Phe) - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 control chromosomes from website {DBsub-Emory}, PubMed: Foroud 2005, OMIM:var0006 - - Germline, Unknown - 0/270 BbsI- - - Johan den Dunnen, Madhuri Hegde
-?/. 1 - c.120T>A r.(?) p.(Ile40=) - likely benign g.137206460T>A g.137870771T>A MYOT(NM_006790.2):c.120T>A (p.I40=) - MYOT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 2 c.122T>C r.(?) p.(Ile41Thr) - VUS g.137206462T>C g.137870773T>C - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.140G>A r.(?) p.(Cys47Tyr) - VUS g.137206480G>A g.137870791G>A - - MYOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 2 c.149A>G r.(?) p.(Gln50Arg) - benign g.137206489A>G g.137870800A>G MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland PubMed: Godley 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 - c.163T>C r.(?) p.(Ser55Pro) - pathogenic (dominant) g.137206503T>C g.137870814T>C - - MYOT_000074 56kb region of homozygosity PubMed: Yis 2018 - - Germline - - - - - Johan den Dunnen
+/. 13 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Berciano 2008, PubMed: Gamez 2009, PubMed: Hauser 2002, OMIM:var0002, PubMed: Olive 2005, 2 more items - - Germline - - - - - Johan den Dunnen
+/. 15 2 c.(170C>T), c.170C>T r.(?), r.170c>u p.(Thr57Ile), p.Thr57Ile - pathogenic, pathogenic (dominant) g.137206510C>T g.137870821C>T 450C>T - MYOT_000000, MYOT_000001 consistent with diagnosis muscular dystrophy, no second variant, 3 more items PubMed: Garvey 2006, PubMed: Hauser 2000, OMIM:var0001, PubMed: Nallamilli 2018 - rs28937597 animal model, Germline - - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder
+?/. 1 - c.170del r.(?) p.(Thr57Asnfs*2) - VUS g.137206510del g.137870821del - - MYOT_000070 In silico tools support pathogenicity (CADD = 33.0) - - - Germline/De novo (untested) - - - - - Helen Latsoudis
+/., ?/. 18 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic, pathogenic (dominant), VUS g.137206519C>G g.137870830C>G 459C>G, MYOT(NM_006790.2):c.179C>G (p.S60C) - MYOT_000007, MYOT_000036 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018, PubMed: Olive 2005, PubMed: Selcen 2004, OMIM:var0003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Utrecht
+/., +?/., ?/. 27 2 c.179C>T r.(?) p.(Ser60Phe) ACMG likely pathogenic, pathogenic, pathogenic (dominant), VUS g.137206519C>T g.137870830C>T 459C>T, MYOT(NM_006790.2):c.179C>T (p.S60F) - MYOT_000008, MYOT_000037 ACMG grading: PM2,PP1,PS4,PM1, combination of variants not reported, no second variant, 4 more items PubMed: Claeys 2008, PubMed: McNeill 2009, PubMed: Nallamilli 2018, PubMed: Olive 2005, 2 more items - rs121908458 CLASSIFICATION record, Germline - 2/1001 cases - - - Johan den Dunnen, Madhuri Hegde, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.194C>T r.(?) p.(Ser65Phe) - VUS g.137206534C>T g.137870845C>T MYOT(NM_006790.2):c.194C>T (p.S65F) - MYOT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.208_209insG r.(?) p.(Pro70ArgfsTer21) - likely pathogenic g.137206548_137206549insG g.137870859_137870860insG - - MYOT_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.220= r.(=) p.(Gln74=) - benign, likely benign g.137206560A>C g.137870871= MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/., -/., ?/. 6 2 c.220C>A r.(?) p.(Gln74Lys) - benign, pathogenic (dominant), VUS g.137206560C>A - 220A>C - MYOT_000013 2 more items from website {DBsub-Emory}, PubMed: Bar 2007, PubMed: Claeys 2008, PubMed: Olive 2005 - - Germline, Unknown no 0/200 - - - Johan den Dunnen, Madhuri Hegde
?/. 1 2 c.257C>A r.(?) p.(Thr86Lys) - VUS g.137206597C>A g.137870908C>A - - MYOT_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.261C>A r.(?) p.(Thr87=) - likely benign g.137206601C>A g.137870912C>A - - MYOT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.284G>T r.(?) p.(Ser95Ile) - pathogenic (dominant) g.137206624G>T g.137870935G>T 564G>T - MYOT_000009 - PubMed: Selcen 2004, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.314C>T r.(?) p.(Pro105Leu) - VUS g.137206654C>T g.137870965C>T - - MYOT_000068 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
?/. 2 2 c.323A>C r.(?) p.(Asn108Thr) - VUS g.137206663A>C g.137870974A>C - - MYOT_000018 - from website {DBsub-Emory}, PubMed: Nallamilli 2018 - - Germline, Unknown - - - - - Madhuri Hegde
-/., -?/. 3 2 c.343G>A r.(?) p.(Ala115Thr) - benign, likely benign g.137206683G>A g.137870994G>A MYOT(NM_006790.2):c.343G>A (p.A115T) - MYOT_000014 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Olive 2005 - - CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Utrecht
-?/. 1 - c.343G>T r.(?) p.(Ala115Ser) - likely benign g.137206683G>T g.137870994G>T MYOT(NM_006790.2):c.343G>T (p.A115S) - MYOT_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.372del r.(?) p.(Ala125Leufs*5) - likely pathogenic g.137211533del g.137875844del - - MYOT_000075 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
-?/., ?/. 8 3 c.445G>C r.(?) p.(Glu149Gln) - likely benign, VUS g.137211606G>C g.137875917G>C MYOT(NM_006790.2):c.445G>C (p.E149Q) - MYOT_000019 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline, Unknown - - - - - Madhuri Hegde, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 3 c.482T>G r.(?) p.(Leu161Trp) - benign g.137211643T>G g.137875954T>G - - MYOT_000005 sequence comparison - - - Germline - 6/31 - - - Johan den Dunnen
?/. 1 - c.490A>C r.(?) p.(Lys164Gln) - VUS g.137211651A>C g.137875962A>C MYOT(NM_006790.2):c.490A>C (p.K164Q) - MYOT_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.527A>G r.(?) p.(Asn176Ser) - VUS g.137211688A>G g.137875999A>G MYOT(NM_006790.2):c.527A>G (p.N176S) - MYOT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.565T>C r.(?) p.(Leu189=) - likely benign g.137213242T>C g.137877553T>C - - MYOT_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 4 c.571G>C r.(?) p.(Gly191Arg) - likely benign, VUS g.137213248G>C g.137877559G>C MYOT(NM_006790.2):c.571G>C (p.G191R) - MYOT_000040 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Utrecht
-?/. 2 - c.594G>A r.(?) p.(Val198=) - likely benign g.137213271G>A g.137877582G>A MYOT(NM_006790.2):c.594G>A (p.V198=) - MYOT_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/., ?/. 2 4 c.617G>A r.(?) p.(Gly206Asp) - likely benign, VUS g.137213294G>A g.137877605G>A MYOT(NM_006790.2):c.617G>A (p.G206D) - MYOT_000020 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Utrecht
-/. 1 - c.630G>A r.(?) p.(Ser210=) - benign g.137213307G>A g.137877618G>A MYOT(NM_006790.2):c.630G>A (p.S210=) - MYOT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 4i c.634-14_634-10del r.(=), r.spl? p.(=), p.(?) - VUS g.137216491_137216495del g.137880802_137880806del 634-14_634-10delGTTTT, MYOT(NM_006790.2):c.634-17_634-13del (p.(=)) - MYOT_000041 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Leiden
-?/., ?/. 2 5 c.656G>A r.(?) p.(Arg219Gln) - likely benign, VUS g.137216527G>A g.137880838G>A MYOT(NM_006790.2):c.656G>A (p.R219Q) - MYOT_000042 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Utrecht
?/. 1 5 c.679G>A r.(?) p.(Val227Ile) - VUS g.137216550G>A g.137880861G>A - - MYOT_000043 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.685_690del r.(?) p.(Arg230_Ser231del) - VUS g.137217663_137217668del g.137881974_137881979del - - MYOT_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.780G>A r.(?) p.(Ser260=) - VUS g.137217758G>A g.137882069G>A MYOT(NM_001135940.1):c.228G>A (p.(=)) - MYOT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.808G>A r.(?) p.(Asp270Asn) - VUS g.137217786G>A g.137882097G>A MYOT(NM_001135940.1):c.256G>A (p.(Asp86Asn)) - MYOT_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.858T>G r.(?) p.(Asn286Lys) - VUS g.137219114T>G g.137883425T>G - - MYOT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.859G>A r.(?) p.(Gly287Arg) - VUS g.137219115G>A g.137883426G>A - - MYOT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 7 c.934G>T r.(?) p.(Val312Leu) - VUS g.137219190G>T g.137883501G>T - - MYOT_000044 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.935T>C r.(?) p.(Val312Ala) - likely benign g.137219191T>C g.137883502T>C - - MYOT_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.937G>A r.(?) p.(Val313Ile) - likely benign g.137219193G>A g.137883504G>A - - MYOT_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.981T>C r.(?) p.(Asn327=) - likely benign g.137219237T>C g.137883548T>C MYOT(NM_006790.2):c.981T>C (p.N327=) - MYOT_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 3 7 c.1008G>T r.(?) p.(=), p.(Val336=) - benign, likely benign, VUS g.137219264G>T g.137883575G>T MYOT(NM_006790.2):c.1008G>T (p.V336=) - MYOT_000021 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 8 c.1083dup r.(?) p.(Glu362Argfs*25) - VUS g.137221795dup g.137886106dup 1083dupA - MYOT_000045 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 - c.1159G>A r.(?) p.(Glu387Lys) - VUS g.137221871G>A g.137886182G>A MYOT(NM_006790.2):c.1159G>A (p.(Glu387Lys), p.E387K) - MYOT_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.1184G>A r.(?) p.(Arg395Gln) - VUS g.137221896G>A - MYOT(NM_006790.2):c.1184G>A (p.R395Q) - MYOT_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1190+7T>C r.(=) p.(=) - likely benign g.137221909T>C - MYOT(NM_006790.2):c.1190+7T>C - MYOT_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1190+12A>G r.(=) p.(=) - benign g.137221914A>G g.137886225A>G MYOT(NM_006790.2):c.1190+12A>G - MYOT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 9 c.1203T>A r.(?) p.(Asp401Glu) - VUS g.137222565T>A g.137886876T>A - - MYOT_000046 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 6 9 c.1214G>A r.(?) p.(Arg405Lys), p.Arg405Lys - NA, pathogenic, pathogenic (dominant) g.137222576G>A g.137886887G>A - - MYOT_000016 in vitro expression coIP reduced homodimerization, not in 200 control chromosomes, 1 more item PubMed: Izumi 2015, Izumi 2020 (submitted), PubMed: Shalaby 2009 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Rumiko Izumi
?/. 1 9 c.1265C>T r.(?) p.(Thr422Ile) - VUS g.137222627C>T g.137886938C>T - - MYOT_000047 no second variant in MYOT PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1318G>A r.(?) p.(Val440Ile) - VUS g.137222680G>A g.137886991G>A - - MYOT_000071 no variant 2nd chromosome PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 9i c.1325-47T>C r.(=) p.(=) - benign g.137222855T>C g.137887166T>C - - MYOT_000006 - - - rs3764812 Germline - 0.01 - - - Johan den Dunnen
-?/. 1 - c.1325-4T>A r.spl? p.? - likely benign g.137222898T>A - MYOT(NM_006790.2):c.1325-4T>A - MYOT_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1346del r.(?) p.(Pro449Glnfs*16) - likely pathogenic (dominant) g.137222923del g.137887234del 1345delC - MYOT_000067 - PubMed: Reddy 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 10 c.1398T>G r.(?) p.(=) - VUS g.137222975T>G g.137887286T>G - - MYOT_000048 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.1401T>A r.(?) p.(Asn467Lys) - VUS g.137222978T>A g.137887289T>A - - MYOT_000049 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 - c.1401T>C r.(?) p.(Asn467=) - likely benign g.137222978T>C g.137887289T>C MYOT(NM_006790.2):c.1401T>C (p.N467=) - MYOT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 3 10 c.1413G>T r.(?) p.(Leu471Phe) - VUS g.137222990G>T g.137887301G>T MYOT(NM_006790.2):c.1413G>T (p.L471F) - MYOT_000017 no second variant in MYOT, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Tom Winder, VKGL-NL_VUmc
+?/. 1 - c.1418T>C r.(?) p.(Val473Ala) - likely pathogenic g.137222995T>C g.137887306T>C - - MYOT_000076 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/. 1 10 c.1453C>T r.(?) p.(Arg485Cys) - VUS g.137223030C>T g.137887341C>T - - MYOT_000050 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 10 c.*98G>A r.*98g>a p.(=) - benign g.137223172G>A g.137887483G>A - - MYOT_000002 - PubMed: Godley 1999 - rs4288 Germline - 7/54 - - - Johan den Dunnen
-?/. 1 - c.*3103G>A r.(=) p.(=) - likely benign g.137226177G>A g.137890488G>A PKD2L2(NM_001258449.1):c.39G>A (p.S13=) - MYOT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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