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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO3A
(D57A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
MYO3A-related condition
+2 more
GConflicting classifications of pathogenicity
MYO3A
(I427V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(A520V)
Single nucleotide variant
(missense variant)
MYO3A-related condition
+3 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
(P548H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MYO3A
(R664L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MYO3A
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic/Likely pathogenic
MYO3A
(R1013C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MYO3A
(A1032T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MYO3A
(R1150fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO3A
(E1180K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MYO3A
(T1311S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
(R1325H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(R1523G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO3A
(E1543K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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