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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
MYLK2
(A2T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYLK2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MYLK2
(A56V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYLK2
(A58D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+3 more
GLikely benign
MYLK2
(G89D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MYLK2
(A95E)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYLK2
(D122H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYLK2
(E134D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+1 more
GUncertain significance
MYLK2
(G142V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MYLK2
(P144A)
Single nucleotide variant
(missense variant)
MYLK2-related disorder
+4 more
GBenign/Likely benign
MYLK2
(I155F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MYLK2
(E170K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MYLK2
(T175N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+2 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
MYLK2
(N278K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYLK2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+2 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+1 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+3 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+4 more
GBenign/Likely benign
MYLK2
(L395F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MYLK2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MYLK2
(V522I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+3 more
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MYLK2
(P538L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MYLK2
(N542K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MYLK2
(M565T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYLK2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
MYLK2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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