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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
(E57*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FKRP
(A114G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GLikely benign
FKRP
(R143S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+10 more
GBenign/Likely benign
FKRP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FKRP
(S152R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
FKRP
(A161V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(S174C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
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
(G196R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GConflicting classifications of pathogenicity
FKRP
(R203C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
FKRP-related condition
+4 more
GBenign/Likely benign
FKRP
(G230V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(R244H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 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
(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
(Y307N)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FKRP
(H353Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FKRP
(I367T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
FKRP
(V393I)
Single nucleotide variant
(missense variant)
FKRP-related condition
+5 more
GConflicting classifications of pathogenicity
FKRP
(N424H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKRP
(P448L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GBenign/Likely benign
FKRP
(L489R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GUncertain significance
AP2S1, ARHGAP35
+13 more
Copy number gain
not provided
GUncertain significance
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