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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114827850, MYL2
(V17A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+2 more
GUncertain significance
MYL2
(Q126*)
Single nucleotide variant
(nonsense)
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
+1 more
GLikely pathogenic
MYL2
(D145fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(M69T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MYL2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
(D48N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+2 more
GUncertain significance
MYL2
(P144fs)
Deletion
(frameshift variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYL2
(E68G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
+3 more
GLikely benign
MYL2
(Q126E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYL2
(P144fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYL2
(R120G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYL2
(F33L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LOC114827850, MYL2
(V17M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+4 more
GUncertain significance
MYL2
(P143L)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
+3 more
GUncertain significance
MYL2
(R120Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+4 more
GConflicting classifications of pathogenicity
MYL2
Deletion
(intron variant)
Congestive heart failure
+4 more
GBenign
MYL2
Single nucleotide variant
(splice acceptor variant)
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYL2
(N47K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
MYL2, LOC114827850
(F18L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
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