NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Autosomal recessive limb-girdle muscular dystrophy type 2M|not provided|Walker-Warburg congenital muscular dystrophy|FKTN-related disorder|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Cardiovascular phenotype|Dilated cardiomyopathy 1X
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โโ2026โ Residue 390
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)Pathogenic
Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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โโ2026โ Residue 189
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)Likely pathogenic
Dilated cardiomyopathy 1X|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy
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โโ2026โ Residue 17
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)Pathogenic
Walker-Warburg congenital muscular dystrophy|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Cardiovascular phenotype
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โโ2026โ Residue 203
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Cardiovascular phenotype
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โโ2026โ Residue 116
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|not provided|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M
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โโ2026โ Residue 307
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
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โโ2026โ Residue 215
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X
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โโ2026โ Residue 137
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M
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โโ2026โ Residue 111
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X
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โโ2025โ Residue 369
NM_001079802.2(FKTN):c.369+1G>CPathogenic
not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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โโ2025
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)Pathogenic
Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|FKTN-related disorder|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
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โโ2025โ Residue 421
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)Pathogenic
Walker-Warburg congenital muscular dystrophy
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โโ2025โ Residue 136
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2M
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โโ2025โ Residue 37
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Cardiovascular phenotype
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โโ2025โ Residue 47
NM_001079802.2(FKTN):c.1172+1G>APathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X
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โโ2025
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2M|not provided|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X|Cardiovascular phenotype|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X
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โโ2025โ Residue 307
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)Pathogenic
not provided|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Walker-Warburg congenital muscular dystrophy
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โโ2025โ Residue 389
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)Pathogenic
not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X
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โโ2025โ Residue 154
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X
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โโ2025โ Residue 377