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Links from MedGen

Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(P213L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(T4A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GUncertain significance
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
(R176G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
FKRP
(G196E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GUncertain significance
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
(R216W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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
(Q377R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GUncertain significance
FKRP
(Q77*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
FKRP
(V81del)
Microsatellite
(inframe_deletion)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(V398I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
(A102E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(A266V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(E324Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FKRP
(G373S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(A351T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(P316A)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GLikely pathogenic
FKRP
(G493R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
FKRP
(D206N)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GUncertain significance
FKRP
(R436Q)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(S494R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(R270H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(R176Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
FKRP
(Y182S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GUncertain significance
FKRP
(G132A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKRP
(V477I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(A242V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(G132R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
FKRP
(T226N)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(E399K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GUncertain significance
FKRP
(Q28R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FKRP
(R100H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FKRP
(A36S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely benign
FKRP
(N424S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+5 more
GUncertain significance
FKRP
(Q105H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 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
(A11V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(S69del)
Deletion
(inframe_deletion)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely pathogenic
FKRP
(A249T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FKRP
(G476E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+6 more
GUncertain significance
FKRP
(E260D)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(R190H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
(W255R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(N164S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
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
(R379P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(A58T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(R265L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
(D60Y)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Duplication
(inframe_insertion)
not provided
+5 more
GUncertain significance
FKRP
(A455V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+4 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GLikely benign
FKRP
(A321fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GPathogenic
FKRP
(G380E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(E324D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
FKRP
(R2W)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
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
(L148I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 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
(L175P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
(V173I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 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
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GLikely benign
FKRP
(A62V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(L236V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(R466H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
FKRP
(R100C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
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