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: rs587783818
rs587783818 		1.000 0.080 X 150614658 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045717
rs797045717 		1.000 0.080 X 150614695 splice donor variant AGTAA/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 1997 2018
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: rs1557413092
rs1557413092 		1.000 0.080 X 150614700 splice donor variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783820
rs587783820 		1.000 0.080 X 150614703 splice region variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783821
rs587783821 		1.000 0.080 X 150619036 splice acceptor variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783822
rs587783822 		1.000 0.080 X 150619090 frameshift variant AT/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783824
rs587783824 		1.000 0.080 X 150619095 frameshift variant T/- delins
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: 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: rs587783826
rs587783826 		1.000 0.080 X 150619126 frameshift variant T/- del
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1557413783
rs1557413783 		1.000 0.080 X 150638963 frameshift variant T/- del
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630307
rs132630307 		1.000 0.080 X 150638967 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs587783827
rs587783827 		1.000 0.080 X 150638967 frameshift variant G/- del
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: rs587783830
rs587783830 		1.000 0.080 X 150639027 splice donor variant G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783831
rs587783831 		1.000 0.080 X 150641267 splice acceptor variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783832
rs587783832 		1.000 0.080 X 150641275 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783833
rs587783833 		1.000 0.080 X 150641276 frameshift variant ATCACCA/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045719
rs797045719 		1.000 0.080 X 150641287 frameshift variant -/G delins
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: rs587783835
rs587783835 		1.000 0.080 X 150641290 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783836
rs587783836 		1.000 0.080 X 150641297 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs132630302
rs132630302 		1.000 0.080 X 150641306 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs587783838
rs587783838 		1.000 0.080 X 150641315 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010