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Links from MedGen

Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKTN
(F214fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Indel
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(C118* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(R124fs +2 more)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(L221* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
GPathogenic
FKTN
(M110fs +2 more)
Deletion
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GLikely pathogenic
FKTN
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(D198fs +2 more)
Indel
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(Y117fs +1 more)
Duplication
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(W173fs +2 more)
Indel
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(N7fs)
Deletion
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1X
+1 more
GPathogenic/Likely pathogenic
FKTN
(L13*)
Single nucleotide variant
(nonsense +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(V277fs +2 more)
Indel
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1X
+1 more
GLikely pathogenic
FKTN
(I52fs +1 more)
Deletion
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(L201* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(L21fs)
Duplication
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(H154fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(R180fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(S157fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(K175fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(H149R +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
(S17R)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
FKTN
(Q197fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
GLikely pathogenic
FKTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1X
GUncertain significance
FKTN
(K425* +2 more)
Duplication
(nonsense +3 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely pathogenic
FKTN
(E350* +2 more)
Single nucleotide variant
(nonsense +1 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
FKTN
(H37R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+4 more
GUncertain significance
FKTN
(P403fs +3 more)
Duplication
(nonsense +2 more)
Dilated cardiomyopathy 1X
+1 more
GLikely pathogenic
FKTN
Single nucleotide variant
(synonymous variant +3 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GLikely benign
FKTN
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
FKTN
(M40T +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+7 more
GUncertain significance
FKTN
(K296R +2 more)
Single nucleotide variant
(missense variant +3 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKTN
(L57P +1 more)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKTN
(H177R +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKTN
(L263R +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKTN
(K257fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
+3 more
GPathogenic
FKTN
(Y26*)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GPathogenic
FKTN
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+5 more
GLikely benign
FKTN
(P209fs +2 more)
Deletion
(frameshift variant +1 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
FKTN
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1X
GPathogenic
FKTN
(Y369* +3 more)
Single nucleotide variant
(nonsense +2 more)
Dilated cardiomyopathy 1X
+3 more
GPathogenic/Likely pathogenic
FKTN
(E100* +1 more)
Single nucleotide variant
(nonsense +2 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
FKTN
(N310S +2 more)
Single nucleotide variant
(missense variant +3 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1X
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+4 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+4 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+4 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
(V199I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+2 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+2 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
Single nucleotide variant
(5 prime UTR variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GUncertain significance
FKTN
(H214Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
FKTN
(F345L +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKTN
Deletion
(inframe_deletion +2 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKTN
(E430K +2 more)
Single nucleotide variant
(missense variant +3 more)
Cardiovascular phenotype
+6 more
GUncertain significance
FKTN
(F87fs +1 more)
Deletion
(frameshift variant +2 more)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
FKTN
(R233* +2 more)
Single nucleotide variant
(nonsense +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FKTN
(H154fs +2 more)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1X
+2 more
GPathogenic/Likely pathogenic
FKTN
(A289fs +2 more)
Indel
(frameshift variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+7 more
GConflicting classifications of pathogenicity
FKTN
(K362* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
+1 more
GPathogenic/Likely pathogenic
FKTN
(R47Q)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+7 more
GUncertain significance
FKTN
(Y252* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
+3 more
GPathogenic/Likely pathogenic
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