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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO9A
(R1901W)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(Q792P)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(A1582V)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(V1603M)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(R2139Q)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
+1 more
GUncertain significance
MYO9A
(K2408N)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(D2140G)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(I688V)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(A2406P)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(Q1136E)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(M1513T)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
Single nucleotide variant
(splice acceptor variant)
Myasthenic syndrome, congenital, 24, presynaptic
GLikely pathogenic
MYO9A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MYO9A
(G1193E)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
+2 more
GBenign
MYO9A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MYO9A
(C553Y)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(T1936M)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
LOC130057457, MYO9A
(P1784S)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(P1704S)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(I1024T)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
(E525K)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
MYO9A
Duplication
(intron variant)
not provided
+1 more
GUncertain significance
MYO9A
(R2283H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYO9A
(D1698G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO9A
(R1517H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO9A
(Y203C)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
+1 more
GUncertain significance
MYO9A
(G2282E)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
+1 more
GConflicting classifications of pathogenicity
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