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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO6
(N35Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(P50A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(D54E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(C63W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYO6
(K118E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(E159K)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic genetic hearing loss
GBenign
MYO6
(D179G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(N202S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MYO6
(V205I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(I207V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(G254R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R276* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MYO6
(R290C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
(S292N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(D326E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
(G375A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(T398I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(A419S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(H429D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(Y450C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(Q488E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
(M598T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(L620V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R654* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
MYO6
(R792L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(I824M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYO6
(D851A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
MYO6
(N849S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(V903L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R925S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R940C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 22
+4 more
GUncertain significance
MYO6
(E945G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(I976N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R986L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO6
(V1002D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MYO6
(S1014R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO6
(A1028V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MYO6
(A1062G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(K1051R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MYO6
(P1181S +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(R1238G +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO6
(S1250I +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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