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: 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: 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: rs1557414513
rs1557414513 		1.000 0.080 X 150657943 frameshift variant -/T delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569565497
rs1569565497 		1.000 0.080 X 150641333 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: rs34119065
rs34119065 		1.000 0.080 X 150671572 frameshift variant C/-;CC delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs398123274
rs398123274 		1.000 0.080 X 150645692 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: rs587783750
rs587783750 		1.000 0.080 X 150649884 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: rs587783751
rs587783751 		1.000 0.080 X 150649902 splice donor variant G/A;C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783752
rs587783752 		0.925 0.080 X 150657854 frameshift variant AA/-;AAA delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs587783758
rs587783758 		1.000 0.080 X 150657906 missense variant A/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783760
rs587783760 		1.000 0.080 X 150657947 missense variant G/C 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: rs587783765
rs587783765 		1.000 0.080 X 150658001 missense variant A/C;G snv 5.5E-06
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783766
rs587783766 		1.000 0.080 X 150658011 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783768
rs587783768 		1.000 0.080 X 150658028 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: rs587783769
rs587783769 		1.000 0.080 X 150658032 splice region variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783770
rs587783770 		1.000 0.080 X 150659663 splice acceptor variant G/C 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: rs587783773
rs587783773 		1.000 0.080 X 150659685 frameshift variant ACCA/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783774
rs587783774 		1.000 0.080 X 150659710 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0