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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKTN
(V8L)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
FKTN
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GBenign
FKTN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
FKTN
Single nucleotide variant
(intron variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
FKTN
(R56C +1 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+6 more
GConflicting classifications of pathogenicity
FKTN
Single nucleotide variant
(synonymous variant +2 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FKTN
(G125S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GBenign/Likely benign
FKTN
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FKTN
(R307* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1X
+7 more
GPathogenic
FKTN
(N446D +2 more)
Single nucleotide variant
(missense variant +3 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
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