MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: X-linked centronuclear myopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397518445
rs397518445 		1.000 0.080 X 150659654 intron variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630306
rs132630306 		1.000 0.080 X 150641410 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1997 2001
dbSNP: rs398123275
rs398123275 		1.000 0.080 X 150596504 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1997 2010
dbSNP: rs1057516031
rs1057516031 		1.000 0.080 X 150598681 stop gained G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs587783753
rs587783753 		1.000 0.080 X 150596543 stop gained C/T snv 9.5E-06
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783756
rs587783756 		1.000 0.080 X 150657903 stop gained G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783757
rs587783757 		1.000 0.080 X 150657904 stop gained G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783761
rs587783761 		1.000 0.080 X 150657958 stop gained T/C;G snv 1.1E-05
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783763
rs587783763 		1.000 0.080 X 150657999 stop gained G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783771
rs587783771 		1.000 0.080 X 150659664 stop gained C/T snv 5.5E-06
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783778
rs587783778 		1.000 0.080 X 150659740 stop gained G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783786
rs587783786 		1.000 0.080 X 150660395 stop gained G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783792
rs587783792 		1.000 0.080 X 150660437 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783795
rs587783795 		1.000 0.080 X 150660473 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783805
rs587783805 		1.000 0.080 X 150663523 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783819
rs587783819 		1.000 0.080 X 150614697 stop gained A/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783825
rs587783825 		1.000 0.080 X 150619115 stop gained C/G;T snv 5.5E-06
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783828
rs587783828 		1.000 0.080 X 150639012 stop gained G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783834
rs587783834 		1.000 0.080 X 150641289 stop gained G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783847
rs587783847 		1.000 0.080 X 150641404 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783854
rs587783854 		1.000 0.080 X 150645761 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783857
rs587783857 		1.000 0.080 X 150596519 stop gained C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs782234944
rs782234944 		1.000 0.080 X 150660398 stop gained C/A;T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045718
rs797045718 		1.000 0.080 X 150619113 stop gained -/A delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs781933660
rs781933660 		1.000 0.080 X 150657977 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 18 1997 2015