Unique variants in gene MYOT

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.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - - - 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 benign r.(?) p.(=) g.137203603A>G - - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.-124T>G benign r.(?) p.(=) g.137206217T>G - - - MYOT_000004 sequence comparison - - - Germline - 6/50 - - - Johan den Dunnen
+/. 1 - c.17G>A pathogenic (dominant) r.(?) p.(Arg6His) g.137206357G>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 VUS r.(?) p.(Gln12Glu) g.137206374C>G - - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu) g.137206446A>G - - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - - - Johan den Dunnen
+/. 3 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) g.137206456C>T - - - MYOT_000011 control chromosomes from website {DBsub-Emory}, PubMed: Foroud 2005, OMIM:var0006 - - Unknown, Germline - 0/270 BbsI- - - Madhuri Hegde, Johan den Dunnen
-?/. 1 - c.120T>A likely benign r.(=) p.(=) g.137206460T>A - MYOT:c.120T>A (=) - MYOT_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 2 c.122T>C VUS r.(?) p.(Ile41Thr) g.137206462T>C - - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.140G>A VUS r.(?) p.(Cys47Tyr) g.137206480G>A - MYOT:NM_006790.2:c.140G>A (Cys47Tyr) - MYOT_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 2 c.149A>G benign r.(?) p.(Gln50Arg) g.137206489A>G - MYOT:c.149A>G (Q50R) - MYOT_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Godley 1999 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Johan den Dunnen
+/. 13 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009, PubMed: Penisson-Besniers 2006, PubMed: Hauser 2002, OMIM:var0002, 3 more items - - Germline - - - - - Johan den Dunnen
+/. 15 2 c.(170C>T), c.170C>T pathogenic (dominant), pathogenic r.170c>u, r.(?) p.Thr57Ile, p.(Thr57Ile) g.137206510C>T - 450C>T - MYOT_000000, MYOT_000001 no second variant, consistent with diagnosis MYOT-related muscular dystrophy, 3 more items PubMed: Garvey 2006, PubMed: Nallamilli 2018, PubMed: Hauser 2000, OMIM:var0001 - rs28937597 animal model, Germline - - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder
+/., ?/. 17 2 c.179C>G pathogenic, VUS, pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - 459C>G - MYOT_000007 no second variant PubMed: Nallamilli 2018, PubMed: Selcen 2004, OMIM:var0003, PubMed: Olive 2005 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen
+/., +?/. 24 2 c.179C>T pathogenic (dominant), pathogenic, ACMG: 4 r.(?) p.(Ser60Phe) g.137206519C>T - MYOT:c.179C>T (S60F), 459C>T - MYOT_000008 unrelated patients, consistent with diagnosis muscular dystrophy, ACMG grading: PM2,PP1,PS4,PM1, 2 more items PubMed: McNeill 2009, PubMed: Claeys 2008, PubMed: Nallamilli 2018, PubMed: Selcen 2004, OMIM:var0004, 1 more item - rs121908458 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, Madhuri Hegde, Andreas Laner, VKGL-NL_Utrecht
-/., -?/. 3 - c.220A>C benign, likely benign r.(?) p.(Lys74Gln) g.137206560A>C - MYOT:c.220A>C (K74Q) - MYOT_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
-/., ?/., +/. 6 2 c.220C>A benign, VUS, pathogenic (dominant) r.(?) p.(Gln74Lys) g.137206560C>A - 220A>C - MYOT_000013 control chomosomes PubMed: Claeys 2008, from website {DBsub-Emory}, PubMed: Bar 2007, PubMed: Olive 2005 - - Germline, Unknown no 0/200 - - - Johan den Dunnen, Madhuri Hegde
?/. 1 2 c.257C>A VUS r.(?) p.(Thr86Lys) g.137206597C>A - - - MYOT_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.284G>T pathogenic (dominant) r.(?) p.(Ser95Ile) g.137206624G>T - 564G>T - MYOT_000009 - PubMed: Selcen 2004, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.323A>C VUS r.(?) p.(Asn108Thr) g.137206663A>C - - - MYOT_000018 - from website {DBsub-Emory}, PubMed: Nallamilli 2018 - - Unknown, Germline - - - - - Madhuri Hegde
-/., -?/. 3 2 c.343G>A benign, likely benign r.(?) p.(Ala115Thr) g.137206683G>A - MYOT:c.343G>A (A115T) - MYOT_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked from website {DBsub-Emory}, PubMed: Olive 2005 - - Unknown, CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Utrecht, Johan den Dunnen
?/. 6 3 c.445G>C VUS r.(?) p.(Glu149Gln) g.137211606G>C - - - MYOT_000019 - PubMed: Nallamilli 2018, from website {DBsub-Emory} - - Germline, Unknown - - - - - Madhuri Hegde
-/. 1 3 c.482T>G benign r.(?) p.(Leu161Trp) g.137211643T>G - - - MYOT_000005 sequence comparison - - - Germline - 6/31 - - - Johan den Dunnen
?/. 1 - c.527A>G VUS r.(?) p.(Asn176Ser) g.137211688A>G - MYOT:c.527A>G (N176S) - MYOT_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 4 c.571G>C VUS r.(?) p.(Gly191Arg) g.137213248G>C - - - MYOT_000040 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.617G>A VUS r.(?) p.(Gly206Asp) g.137213294G>A - - - MYOT_000020 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-/. 1 - c.630G>A benign r.(=) p.(=) g.137213307G>A - MYOT:c.630G>A (=) - MYOT_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 4i c.634-14_634-10del VUS r.spl? p.(?) g.137216491_137216495del - 634-14_634-10delGTTTT - MYOT_000041 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.656G>A VUS r.(?) p.(Arg219Gln) g.137216527G>A - - - MYOT_000042 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.679G>A VUS r.(?) p.(Val227Ile) g.137216550G>A - - - MYOT_000043 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.780G>A likely benign - - g.137217758G>A - MYOT:NM_001135940.1:c.228G>A, NM_006790.2:c.780G>A - MYOT_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 7 c.934G>T VUS r.(?) p.(Val312Leu) g.137219190G>T - - - MYOT_000044 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/., -/. 2 7 c.1008G>T VUS, benign r.(?), r.(=) p.(=) g.137219264G>T - MYOT:c.1008G>T (=) - MYOT_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked from website {DBsub-Emory} - - Unknown, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_Utrecht
?/. 1 8 c.1083dup VUS r.(?) p.(Glu362Argfs*25) g.137221795dup - 1083dupA - MYOT_000045 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1190+7T>C likely benign - - g.137221909T>C - MYOT:NM_001135940.1:c.638+7T>C, NM_001258448.1:c.-3272T>C, … - MYOT_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1190+12A>G benign r.(=) p.(=) g.137221914A>G - MYOT:c.1190+12A>G - MYOT_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 9 c.1203T>A VUS r.(?) p.(Asp401Glu) g.137222565T>A - - - MYOT_000046 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 5 9 c.1214G>A pathogenic (dominant) r.(?), - p.(Arg405Lys), p.Arg405Lys g.137222576G>A - - - MYOT_000016 not in 200 control chromosomes, in vitro expression coIP reduced homodimerization, 1 more item PubMed: Shalaby 2009 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 9 c.1265C>T VUS r.(?) p.(Thr422Ile) g.137222627C>T - - - MYOT_000047 no second variant in MYOT PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1324+2T>C VUS - - g.137222688T>C - MYOT:NM_001135940.1:c.772+2T>C, NM_001258448.1:c.-2493T>C, … - MYOT_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 9i c.1325-47T>C benign r.(=) p.(=) g.137222855T>C - - - MYOT_000006 - - - rs3764812 Germline - 0.01 - - - Johan den Dunnen
?/. 1 10 c.1398T>G VUS r.(?) p.(=) g.137222975T>G - - - MYOT_000048 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.1401T>A VUS r.(?) p.(Asn467Lys) g.137222978T>A - - - MYOT_000049 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1401T>C likely benign r.(=) p.(=) g.137222978T>C - MYOT:c.1401T>C (=) - MYOT_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 10 c.1413G>T VUS r.(?) p.(Leu471Phe) g.137222990G>T - - - MYOT_000017 no second variant in MYOT PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
?/. 1 10 c.1453C>T VUS r.(?) p.(Arg485Cys) g.137223030C>T - - - MYOT_000050 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 10 c.*98G>A benign r.*98g>a p.(=) g.137223172G>A - - - MYOT_000002 - PubMed: Godley 1999 - rs4288 Germline - 7/54 - - - Johan den Dunnen
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