Variant VAR_016913

HomeMutation profile

All mutations from LMNA_HUMAN

118 mutations listed

Variant UniProt ID Mutation Disease Mutation Type dTANGO dWALTZ dLIMBO ddG
VAR_009988 LMNA_HUMAN R453W Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 0 2 -1 7.85
VAR_009998 LMNA_HUMAN R582H Familial partial lipodystrophy type 2 (FPLD2) Disease 0 0 -9 N.A.
VAR_016205 LMNA_HUMAN R377H Limb-girdle muscular dystrophy type 1B (LGMD1B) Disease 0 0 2 N.A.
VAR_018727 LMNA_HUMAN R527H Mandibuloacral dysplasia with type A lipodystrophy (MADA) Disease 0 44 6 0.64
VAR_017656 LMNA_HUMAN A57P Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) Disease 0 0 0 N.A.
VAR_034706 LMNA_HUMAN R60G Cardiomyopathy dilated type 1A (CMD1A) Disease 0 0 359 N.A.
VAR_009995 LMNA_HUMAN R527P Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 0 -4 7 N.A.
VAR_039746 LMNA_HUMAN R25G Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 0 0 0 N.A.
VAR_039745 LMNA_HUMAN T10I - Polymorphism 0 0 5 N.A.
VAR_039747 LMNA_HUMAN R25P Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 0 0 0 N.A.
VAR_039750 LMNA_HUMAN E33D - Polymorphism 0 0 0 N.A.
VAR_039748 LMNA_HUMAN R28W Familial partial lipodystrophy type 2 (FPLD2) Disease 2 0 0 N.A.
VAR_016913 LMNA_HUMAN R133L Familial partial lipodystrophy type 2 (FPLD2) Disease 22 0 0 N.A.
VAR_039751 LMNA_HUMAN E33G Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 1 0 0 N.A.
VAR_017657 LMNA_HUMAN R133P Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease -3 0 0 N.A.
VAR_017658 LMNA_HUMAN L140R Hutchinson-Gilford progeria syndrome (HGPS) Disease 0 0 0 N.A.
VAR_017659 LMNA_HUMAN E145K Hutchinson-Gilford progeria syndrome (HGPS) Disease 2 0 0 N.A.
VAR_017660 LMNA_HUMAN E161K Cardiomyopathy dilated type 1A (CMD1A) Disease 0 0 0 N.A.
VAR_039754 LMNA_HUMAN R50S Emery-Dreifuss muscular dystrophy type 2 (EDMD2) Disease 1 0 0 N.A.
VAR_017661 LMNA_HUMAN R298C Charcot-Marie-Tooth disease type 2B1 (CMT2B1) Disease 0 0 0 N.A.
VAR_039755 LMNA_HUMAN R62G Familial partial lipodystrophy type 2 (FPLD2) Disease 0 0 -153 N.A.
VAR_017664 LMNA_HUMAN G608S Hutchinson-Gilford progeria syndrome (HGPS) Disease 0 0 0 N.A.
VAR_039759 LMNA_HUMAN K97E Cardiomyopathy dilated type 1A (CMD1A) Disease 0 0 0 N.A.
VAR_034706 LMNA_HUMAN R60G Familial partial lipodystrophy type 2 (FPLD2) Disease 0 0 359 N.A.
VAR_039758 LMNA_HUMAN R89L Cardiomyopathy dilated type 1A (CMD1A) Disease 0 0 0 N.A.
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