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Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign
FKRP
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
FKRP
(T4S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GUncertain significance
FKRP
(T15P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(W26*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+1 more
GPathogenic/Likely pathogenic
FKRP
(Q28E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(H29Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
FKRP
(V51I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(F56fs)
Duplication
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic
FKRP
(E57K)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
(V63M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
(V79M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
FKRP
(Y88*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FKRP
(Q105*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
FKRP
(A107S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
FKRP
(A114G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
(S115L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
(F125S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(V129L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
(G132E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(R134P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(A135D)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(R143S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+10 more
GBenign/Likely benign
FKRP
(S152R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
FKRP
(V156M)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(S174C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
FKRP
(L175P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(Y182H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(Y182C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GPathogenic
FKRP
(P186L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(A188T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(L194Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
FKRP
(G196R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GConflicting classifications of pathogenicity
FKRP
(G196R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(R205G)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+6 more
GUncertain significance
FKRP
(R205C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(S211L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
FKRP-related condition
+4 more
GBenign/Likely benign
FKRP
(R216Q)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(T226fs)
Deletion
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
FKRP
(L228F)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
FKRP
(R244L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
(R244H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
FKRP
(P247fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FKRP
Indel
(inframe_indel)
not provided
GUncertain significance
FKRP
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
FKRP
(P247Q)
Single nucleotide variant
(missense variant)
FKRP-related condition
+4 more
GConflicting classifications of pathogenicity
FKRP
(T250R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(R254C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(R259C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(L268R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(I274M)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
FKRP
(R275C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+20 more
GPathogenic/Likely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
(G298R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(V300M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
FKRP
(V300A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
FKRP
(G302S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
FKRP
(T314M)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic
FKRP
(P316S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(P316R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
FKRP
Duplication
(inframe_insertion)
not provided
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
(L322V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FKRP
(E324*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
FKRP
(Y328del)
Deletion
(inframe_deletion)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(A335T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(A336V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
(R339H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+7 more
GBenign/Likely benign
FKRP
(R352C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
(P358L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
(V363L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(V372G)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(R379Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(A381fs)
Deletion
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(S385L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(V393I)
Single nucleotide variant
(missense variant)
FKRP-related condition
+5 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
(P419fs)
Deletion
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
FKRP
(R423fs)
Deletion
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic
FKRP
(R423P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(N424*)
Insertion
(nonsense)
Walker-Warburg congenital muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
FKRP
(N424H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
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