All individuals with variants in gene IGHMBP2

174 entries on 2 pages. Showing entries 1 - 100.
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VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - 1 1 Global Variome, with Curator vacancy
00000003 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000011 NA04364 PubMed: Bell 2011 - M - - - - 0 - - autism, BMD/DMD, CF, deafness - 1 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000058 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000073 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000090 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000091 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000092 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00035961 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035962 - - - - - Germany - - 0 - - ? suspected SMARD1 1 1 Andreas Laner
00035963 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035964 - - - - - Germany - - 0 - - ? suspected SMARD 1 1 Andreas Laner
00035965 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035966 - - - - - Germany - - 0 - - ? suspected SMARD1 1 1 Andreas Laner
00035967 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035968 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035969 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035970 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035971 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035972 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035973 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035974 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035975 - - - - - Germany - - 0 - - ? suspected SMARD 1 1 Andreas Laner
00035976 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035977 - - - - - Germany - - 0 - - ? suspected SMARD 1 1 Andreas Laner
00035978 - - - - - Germany - - 0 - - ? suspected SMARD 1 1 Andreas Laner
00080845 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - DSMA-1 Neuronopathy, distal hereditary motor, type VI (OMIM:604320) 1 1 Daniel Trujillano
00080874 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - CMT-2S Charcot-Marie-Tooth disease, axonal, type 2S (OMIM:616155) 1 1 Daniel Trujillano
00081008 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - DSMA-1 Neuronopathy, distal hereditary motor, type VI (OMIM:604320) 1 1 Daniel Trujillano
00207796 - - - M - Germany - - 0 - - - HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia) 1 1 Andreas Laner
00207923 - - - M - Germany - - 0 - - - HP:0002133 (Status epilepticus) 1 1 Andreas Laner
00208811 - - - M - Germany - - 0 - - - HP:0012638 (Abnormality of nervous system physiology); HP:0100543 (Cognitive impairment); HP:0011446 (Abnormality of higher mental function); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness) 1 1 Andreas Laner
00210418 F4; 18; 7 PubMed: Grohmann, 2001 affected sibling F no Germany - - 0 - - DSMA-1 - 3 2 Jorge Oliveira
00210419 F5; 19 PubMed: Grohmann, 2001 - M yes Lebanon - - 0 - - DSMA-1 Bilateral equinovarus foot 4 1 Jorge Oliveira
00210420 F6; 25; 8 PubMed: Grohmann, 2001 - F yes Italy - - 0 - - DSMA-1 - 3 1 Jorge Oliveira
00210421 F3; 7; 6 PubMed: Grohmann, 2001 - F yes Turkey - - 0 - - DSMA-1 - 3 1 Jorge Oliveira
00210422 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - DSMA-1 - 5 5 Jorge Oliveira
00210423 F1; 4; 1 PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - M no Italy - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210424 1 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210425 2 PubMed: Grohmann, 2003 - F - Israel - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210426 3 PubMed: Grohmann, 2003 - M - Bangladesh - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210427 5; 2 PubMed: Grohmann, 2003; PubMed: Diers, 2005 - F - Ghana - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210428 6 PubMed: Grohmann, 2003 - M - Ghana - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210429 8 PubMed: Grohmann, 2003 - M - Austria - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210430 9 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210431 11 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210432 12 PubMed: Grohmann, 2003 - F - Australia - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210433 13 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210434 14 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210435 15 PubMed: Grohmann, 2003 - F - Spain - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210436 16 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210437 17 PubMed: Grohmann, 2003 - M - United Kingdom (Great Britain) - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210438 20 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210439 21 PubMed: Grohmann, 2003 - F - Hungary - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210440 22; P2 PubMed: Grohmann, 2003; PubMed: Guenther, 2004 - F no Belgium - >9y 0 - - DSMA-1 - 1 1 Jorge Oliveira
00210441 23 PubMed: Grohmann, 2003 - M - Morocco - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210442 24 PubMed: Grohmann, 2003 - M - Turkey - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210443 26 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210444 27 PubMed: Grohmann, 2003 - M - - African - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210445 28 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210446 29 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210447 1 PubMed: Pitt, 2003 - M - - - 4m 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210448 2 PubMed: Pitt, 2003 - - - - - 3m 0 - - DSMA-1 - 2 1 Jorge Oliveira
00210449 6 PubMed: Pitt, 2003 - - - - - 3m 0 - - DSMA-1 - 2 1 Jorge Oliveira
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