MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
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: rs121434402
rs121434402 		0.925 0.080 11 95845063 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1555060614
rs1555060614 		1.000 0.080 11 95849673 splice donor variant C/T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1555061026
rs1555061026 		1.000 0.080 11 95850598 splice donor variant A/C snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1565351898
rs1565351898 		1.000 0.080 11 95850599 splice donor variant C/G snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs523934
rs523934 		11 95908611 intron variant G/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs121434402
rs121434402 		0.925 0.080 11 95845063 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434403
rs121434403 		0.925 0.080 11 95849841 stop gained C/A;T snv
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434403
rs121434403 		0.925 0.080 11 95849841 stop gained C/A;T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434404
rs121434404 		1.000 0.080 11 95841652 stop gained G/A snv 4.0E-06
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1358449243
rs1358449243 		1.000 0.080 11 95861995 frameshift variant CA/- delins 4.0E-06 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555057316
rs1555057316 		1.000 0.080 11 95838148 frameshift variant -/TA delins
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555060024
rs1555060024 		1.000 0.080 11 95847729 stop gained C/T snv
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1565342506
rs1565342506 		1.000 0.080 11 95836150 stop gained G/A snv
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs757563721
rs757563721 		1.000 0.080 11 95849835 stop gained G/A;T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs863224516
rs863224516 		1.000 0.080 11 95847859 frameshift variant T/- delins
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.010 1.000 1 2019 2019
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C1301959
Disease: Bulbar weakness
Bulbar weakness 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1171462240
rs1171462240 		0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06
CUI: C0333072
Disease: Claw-shaped deformity
Claw-shaped deformity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548 		0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548 		0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548 		0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0333072
Disease: Claw-shaped deformity
Claw-shaped deformity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548 		0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019