List of variants reported as uncertain significance for Severe X-linked myotubular myopathy by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.481G>A (p.Val161Met)	rs782744530	0.00006
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)	rs1347335331	0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)	rs782451760	0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His)	rs782277980	0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)	rs782215492	0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr)	rs199821243	0.00002
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)	rs782664128	0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)	rs782032230	0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)	rs782705509	0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln)	rs782469735	0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile)	rs782156492	0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)	rs781886721	0.00001
NM_000252.3(MTM1):c.867+4A>T	rs1322584849	0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)	rs781871854	0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)	rs782444216	0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln)	rs782462553	0.00001
NC_000023.10:g.(?_149613783)_(149840068_?)dup
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149839891)_(149840078_?)del
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)	rs727504019
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1084G>C (p.Asp362His)	rs2148508579
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)	rs2148508637
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)	rs2040151430
NM_000252.3(MTM1):c.1260+5G>A	rs587783769
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)	rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys)	rs398123269
NM_000252.3(MTM1):c.137-7T>G	rs587783784
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro)	rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)	rs587783789
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)	rs2040200948
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)	rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu)	rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg)	rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)	rs1569565536
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu)	rs868972342
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu)	rs2148515723
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys)	rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)	rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro)	rs1347335331
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)	rs1195705222
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)	rs587783818
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.397A>G (p.Met133Val)	rs2039434563
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro)	rs2148461766
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro)	rs1557413215
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)	rs964287315
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.530G>T (p.Gly177Val)	rs1603187659
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)	rs587783832
NM_000252.3(MTM1):c.543C>G (p.His181Gln)	rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr)	rs2148488398
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)	rs2148488427
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.5C>T (p.Ala2Val)	rs1603118990
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)	rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys)	rs2148425592
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A	rs2039847628
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly)	rs2148493156
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu)	rs1557413958
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del)	rs1603124011
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)	rs2148493317
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr)	rs2148497733
NM_000252.3(MTM1):c.905A>G (p.His302Arg)	rs2148497756
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)	rs587783861
NM_000252.3(MTM1):c.944A>G (p.His315Arg)	rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile)	rs2148497828
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)	rs2039989751
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu)	rs2148497898

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.