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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOZ2
Duplication
Cardiovascular phenotype
+4 more
GBenign
MYOZ2
(T6S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MYOZ2
(Q10R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYOZ2
(Q10P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+5 more
GBenign/Likely benign
MYOZ2
(V36L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYOZ2
(H49R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYOZ2
Single nucleotide variant
(synonymous variant)
MYOZ2-related disorder
+4 more
GBenign/Likely benign
MYOZ2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign
MYOZ2
(N82T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GBenign/Likely benign
MYOZ2
(S101*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 16
+4 more
GUncertain significance
MYOZ2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYOZ2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
MYOZ2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYOZ2
(Y147H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYOZ2
(L163S)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MYOZ2
(F195I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
MYOZ2
(A198fs)
Deletion
(frameshift variant)
Cardiomyopathy
GUncertain significance
MYOZ2
(R230W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYOZ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign
MYOZ2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
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