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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH6
(Q1813E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+2 more
GUncertain significance
MYH6
(R1798W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(K1756R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC126861896, MYH6
(R1664H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
LOC126861896, MYH6
(E1640K)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+7 more
GUncertain significance
LOC126861896, MYH6
(K1619R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6, LOC126861896
(R1610C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
MYH6
(V1525fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
MYH6
(R1502Q)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
MYH6
(N1450T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(A1443D)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
MYH6
(R1361H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+7 more
GUncertain significance
MYH6
(K1326N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
(R1305W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH6
(R1270H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(D1200H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+7 more
GUncertain significance
MYH6
(E1170Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(E1170K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GConflicting classifications of pathogenicity
MYH6
(Q1092E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(R809C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+2 more
GUncertain significance
MYH6
(R789C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYH6
Single nucleotide variant
(splice donor variant)
not specified
+7 more
GUncertain significance
MYH6
(R721W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH6
(H670Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
(S623F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(S614V)
Indel
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
(Q420*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
MYH6
(G415A)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 3, susceptibility to
+6 more
GConflicting classifications of pathogenicity
MYH6
(N409K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYH6
(G378R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(Q277H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC114827851, MYH6
(A110V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+2 more
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC114827851, MYH6
(F31fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
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