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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+4 more
GConflicting classifications of pathogenicity
MYH6
(E1831K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+7 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH6
(R1798Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126861896, MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+3 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+2 more
GBenign
MYH6
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+5 more
GBenign/Likely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
+7 more
GBenign/Likely benign
MYH6
(S1224R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(E1147fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
+3 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYH6
(A1004S)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
MYH6
(D588A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
MYH6
(D377E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
MYH6
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC114827851, MYH6
(G56R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
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