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: rs587783775
rs587783775 		1.000 0.080 X 150659709 frameshift variant C/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783776
rs587783776 		1.000 0.080 X 150659728 missense variant T/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783777
rs587783777 		1.000 0.080 X 150659731 missense variant A/C snv
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: rs587783779
rs587783779 		1.000 0.080 X 150659757 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: rs587783780
rs587783780 		1.000 0.080 X 150659758 splice donor variant T/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783782
rs587783782 		1.000 0.080 X 150660370 splice acceptor variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783783
rs587783783 		1.000 0.080 X 150660384 missense variant T/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783785
rs587783785 		1.000 0.080 X 150660393 missense variant A/G;T snv 5.5E-05
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: rs587783787
rs587783787 		1.000 0.080 X 150660405 missense variant T/C;G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783788
rs587783788 		1.000 0.080 X 150598594 inframe deletion AAA/- del
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783789
rs587783789 		1.000 0.080 X 150660423 missense variant A/C;G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783791
rs587783791 		1.000 0.080 X 150598594 frameshift variant AGAA/- delins
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: rs587783793
rs587783793 		1.000 0.080 X 150660444 missense variant G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783794
rs587783794 		1.000 0.080 X 150660450 missense variant T/C 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: rs587783797
rs587783797 		1.000 0.080 X 150660479 frameshift variant ACAG/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783798
rs587783798 		1.000 0.080 X 150660485 splice donor variant G/A;T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783799
rs587783799 		1.000 0.080 X 150660486 splice donor variant T/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783800
rs587783800 		1.000 0.080 X 150663455 missense variant C/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783802
rs587783802 		1.000 0.080 X 150663474 frameshift variant C/- del
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783803
rs587783803 		1.000 0.080 X 150598606 frameshift variant CATA/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783804
rs587783804 		1.000 0.080 X 150598609 frameshift variant A/- del
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0