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Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(Y368*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(E118*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(V145fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(V393fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(Y182fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(A267fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(Q406*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GPathogenic
FKRP
(Y340*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GPathogenic
FKRP
(Q73*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+1 more
GPathogenic
FKRP
(I356T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(G373fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(Y328*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(W341*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(S211fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(R404C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+1 more
GConflicting classifications of pathogenicity
FKRP
(W313*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GPathogenic
FKRP
(E334*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(L446fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+1 more
GPathogenic/Likely pathogenic
FKRP
(Q30*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(A157P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
(T4A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GUncertain significance
FKRP
(A150fs)
Deletion
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
FKRP
(L238fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+1 more
GPathogenic/Likely pathogenic
FKRP
(R312G)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+3 more
GConflicting classifications of pathogenicity
FKRP
(E443K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GLikely benign
FKRP
(C375S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(W231C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+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)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+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)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+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)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+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)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+5 more
GUncertain significance
FKRP
(E285A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+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)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GConflicting classifications of pathogenicity
FKRP
(L171fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+1 more
GPathogenic/Likely pathogenic
FKRP
(V398I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
(G373S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GUncertain significance
FKRP
(Y307C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GUncertain significance
FKRP
(G298A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+5 more
GUncertain significance
FKRP
(D206N)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+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)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
(N424S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+5 more
GConflicting classifications of pathogenicity
FKRP
(Y361*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
FKRP
(S69del)
Deletion
(inframe_deletion)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely pathogenic
FKRP
(G476E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+6 more
GUncertain significance
FKRP
(A321E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
FKRP
(R295G)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(W255R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(L108P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
(E280K)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
Duplication
(inframe_insertion)
not provided
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+4 more
GLikely benign
FKRP
(C317fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GPathogenic
FKRP
(Y23C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GUncertain significance
FKRP
(E311D)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(W432*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GPathogenic/Likely pathogenic
FKRP
(P106S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(A326T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
(A184V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(R379Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+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)
Walker-Warburg congenital muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
FKRP
(L236V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(G391fs)
Microsatellite
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic
FKRP
(C168R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+1 more
GConflicting classifications of pathogenicity
FKRP
(A381fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FKRP
(R176*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
FKRP
(K472fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(P89L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
FKRP
(E310*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+7 more
GPathogenic/Likely pathogenic
FKRP
(I478T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+4 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)
not provided
+6 more
GUncertain significance
FKRP
(A188T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+6 more
GUncertain significance
FKRP
(R275C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FKRP
(S43C)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
FKRP
(E55fs)
Duplication
(frameshift variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GPathogenic
FKRP
(N480I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(R41L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(Y340F)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(N424H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+6 more
GUncertain significance
FKRP
(A188V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
FKRP
(R110W)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+6 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
FKRP
(P451L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FKRP
(T4S)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
FKRP
(G302S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+6 more
GConflicting classifications of pathogenicity
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