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Links from MedGen

Items: 1 to 100 of 221

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH1, MYHAS
(K432T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN
(H37R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+4 more
GUncertain significance
FKTN
(L149fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(Q24fs)
Duplication
(frameshift variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(L59* +1 more)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(D173fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(E117fs +2 more)
Indel
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(W103fs +1 more)
Deletion
(frameshift variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(I192fs +2 more)
Indel
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(D125fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(K11fs +2 more)
Indel
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(R123fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(R167fs +2 more)
Microsatellite
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GLikely pathogenic
FKTN
(G111* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 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
(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
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GConflicting classifications of pathogenicity
FKTN
(Y26*)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GPathogenic
FKTN
(I180V +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
+2 more
GUncertain significance
FKTN
(K143R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GUncertain significance
FKTN
(K6N)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
+2 more
GUncertain significance
FKTN
(A252S +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GUncertain significance
FKTN
(D194G +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+2 more
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+5 more
GLikely benign
FKTN
Indel
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GPathogenic/Likely pathogenic
FKTN
(N310S +2 more)
Single nucleotide variant
(missense variant +3 more)
Walker-Warburg congenital muscular dystrophy
+2 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)
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)
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
+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
(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)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
FKTN
(A289fs +2 more)
Indel
(frameshift variant +3 more)
Dilated cardiomyopathy 1X
+7 more
GConflicting classifications of pathogenicity
FKTN
(R47Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GUncertain significance
FKTN
(Y329fs +2 more)
Duplication
(frameshift variant +3 more)
not provided
+7 more
GUncertain significance
FKTN
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GLikely pathogenic
FKTN
(N399fs +2 more)
Deletion
(frameshift variant +3 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1X
+2 more
GPathogenic/Likely pathogenic
FKTN
(M245fs +2 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+3 more
GPathogenic/Likely pathogenic
FKTN
Deletion
(inframe_deletion +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN
(E417* +2 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GConflicting classifications of pathogenicity
FKTN
(V235fs +2 more)
Deletion
(frameshift variant +1 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
FKTN
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GPathogenic/Likely pathogenic
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN
(H186R +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+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
GUncertain significance
FKTN
(L411fs +3 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN, FKTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
FKTN
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+1 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GLikely pathogenic
FKTN
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GLikely pathogenic
FKTN
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GLikely pathogenic
FKTN
(M1del)
Deletion
(inframe_deletion +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+3 more
GConflicting classifications of pathogenicity
FKTN
Deletion
(inframe_indel +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
GUncertain significance
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