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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOZ2
(N110fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
MYOZ2
(M1L)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYOZ2
(E251K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYOZ2
(H4L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYOZ2
(M7V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+2 more
GUncertain significance
MYOZ2
(F139I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYOZ2
Duplication
Hypertrophic cardiomyopathy 16
GUncertain significance
MYOZ2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 16
GLikely benign
MYOZ2
(T249A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYOZ2
(R115*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+3 more
GUncertain significance
MYOZ2
Deletion
(3 prime UTR variant)
Hypertrophic cardiomyopathy 16
+1 more
GUncertain significance
MYOZ2
Duplication
(3 prime UTR variant)
Hypertrophic cardiomyopathy 16
+1 more
GUncertain significance
MYOZ2
(G238R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
GUncertain significance
MYOZ2
Duplication
(intron variant)
Hypertrophic cardiomyopathy 16
+2 more
GBenign/Likely benign
MYOZ2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GBenign/Likely benign
MYOZ2
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 16
GUncertain significance
MYOZ2
(R61C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+3 more
GUncertain significance
MYOZ2
(P160L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+4 more
GUncertain significance
MYOZ2
(P225L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+3 more
GUncertain significance
MYOZ2
(F222L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+1 more
GUncertain significance
MYOZ2
(S101*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 16
+4 more
GUncertain significance
MYOZ2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MYOZ2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
MYOZ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign
MYOZ2
(L163S)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MYOZ2
(Q149H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
+3 more
GUncertain significance
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
Duplication
Cardiovascular phenotype
+4 more
GBenign
MYOZ2
Single nucleotide variant
(synonymous variant)
MYOZ2-related disorder
+6 more
GBenign
MYOZ2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MYOZ2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 16
+3 more
GBenign
MYOZ2
(I246M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GBenign/Likely benign
MYOZ2
(S48P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
GLikely pathogenic
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