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: 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: rs587783862
rs587783862 		1.000 0.080 X 150649767 inframe deletion CTT/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045713
rs797045713 		1.000 0.080 X 150659707 inframe deletion CCT/- delins
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783817
rs587783817 		1.000 0.080 X 150592616 start lost T/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783823
rs587783823 		1.000 0.080 X 150592617 start lost 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: rs587783814
rs587783814 		1.000 0.080 X 150614586 splice region variant C/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: rs587783844
rs587783844 		1.000 0.080 X 150592680 splice region variant A/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs672601324
rs672601324 		1.000 0.080 X 150645682 splice acceptor variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1997 1999
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: 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: rs587783812
rs587783812 		1.000 0.080 X 150614588 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: rs587783813
rs587783813 		1.000 0.080 X 150614587 splice acceptor variant A/C 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: 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: rs587783846
rs587783846 		1.000 0.080 X 150596497 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: 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: 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: 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: 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: 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: 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: 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