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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
FKRP
(V79M)
Single nucleotide variant
(missense variant)
not specified
+3 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
+7 more
GBenign/Likely benign
FKRP
Single nucleotide variant
(synonymous variant)
FKRP-related disorder
+3 more
GConflicting classifications of pathogenicity
FKRP
(I274M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
FKRP
(L276I)
Single nucleotide variant
(missense variant)
FKRP-related disorder
+20 more
GPathogenic/Likely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 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)
not provided
+3 more
GBenign/Likely benign
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