U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(T4A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+3 more
GUncertain significance
FKRP
(R312G)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+3 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GLikely benign
FKRP
(C375S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+4 more
GUncertain significance
FKRP
(W231C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GConflicting classifications of pathogenicity
FKRP
(R320H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(G354E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(E310Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GUncertain significance
FKRP
(R181C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(V145G)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(W279R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GUncertain significance
FKRP
(C168Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+2 more
GLikely pathogenic
FKRP
(T294K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GUncertain significance
FKRP
(P217T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+1 more
GUncertain significance
FKRP
(E285A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+3 more
GUncertain significance
FKRP
(R40H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+2 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(V398I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(G373S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(G298A)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(D206N)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(S494R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(S69P)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+5 more
GConflicting classifications of pathogenicity
FKRP
(E399K)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+5 more
GUncertain significance
FKRP
(N424S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
FKRP
(G476E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(G456S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
GUncertain significance
FKRP
(A321E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+2 more
GConflicting classifications of pathogenicity
FKRP
(W255R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(E280K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GUncertain significance
FKRP
Duplication
(inframe_insertion)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GLikely benign
FKRP
(C317fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic
FKRP
(Y23C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(E311D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GUncertain significance
FKRP
(W432*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
FKRP
(P106S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(A326T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
(A184V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(R379Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(L284P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(A455S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
(L236V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(E260*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
FKRP
Duplication
(inframe_insertion)
Muscular dystrophy-dystroglycanopathy type B5
+3 more
GUncertain significance
FKRP
(D401N)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(P89L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FKRP
(E310*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
FKRP
(R323H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+2 more
GConflicting classifications of pathogenicity
FKRP
(R181S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(A188T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(S43C)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GUncertain significance
FKRP
(N480I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(R41L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(Y340F)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
(N424H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+6 more
GUncertain significance
FKRP
(A188V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GUncertain significance
FKRP
(R110W)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+6 more
GLikely benign
FKRP
(P451L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(T4S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GUncertain significance
FKRP
(G302S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FKRP
(S152R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
FKRP
(R205G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(A335T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(F56fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GPathogenic
FKRP
(Y182C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
FKRP
(V300M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+8 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
(L276I +2 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
FKRP
(P316R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FKRP
(A459V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(G196R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
FKRP
(P358L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
(I274M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
(R143S)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+10 more
GBenign/Likely benign
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
FKRP
(S174C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+9 more
GBenign/Likely benign
FKRP
(A135D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GUncertain significance
FKRP
(A114G)
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
+7 more
GBenign/Likely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GBenign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign
FKRP
(N463D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+7 more
GPathogenic/Likely pathogenic
FKRP
(V300A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
FKRP
(V405L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(A455D)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GPathogenic
FKRP
(S221R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(P316T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+18 more
GPathogenic/Likely pathogenic
FKRP
(P448L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination