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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH8, MYHAS
(V1930G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH8, MYHAS
(Q1875*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC126862493, MYH8
+1 more
Single nucleotide variant
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
MYHAS, MYH8
(R1616*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH8, MYHAS
(Y1491fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC126862494, MYH8
+1 more
(L1107fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126862494, MYH8
+1 more
Single nucleotide variant
(splice donor variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MYH8, MYHAS
(I916fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYH8, MYHAS
(A853T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH8, MYHAS
(K710*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MYH8, MYHAS
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MYH8, MYHAS
(F492fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MYH8, MYHAS
(I470fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MYH8, MYHAS
(C403*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
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