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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 8
GUncertain significance
MYL3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 8
+1 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 8
+1 more
GUncertain significance
MYL3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 8
+2 more
GBenign/Likely benign
MYL3
(E186A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYL3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
MYL3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 8
+2 more
GUncertain significance
MYL3
(M1fs)
Indel
(frameshift variant +1 more)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYL3
(R81W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
+3 more
GUncertain significance
MYL3
(A24V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
+2 more
GUncertain significance
MYL3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 8
+1 more
GUncertain significance
MYL3
(P21S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
MYL3
(P27A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
+1 more
GUncertain significance
MYL3
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy 8
GUncertain significance
MYL3
(A24T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
+2 more
GUncertain significance
MYL3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 8
GUncertain significance
MYL3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 8
GUncertain significance
MYL3
(A57V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
+2 more
GUncertain significance
MYL3
(G161C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 8
GUncertain significance
MYL3
(G150D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYL3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 8
+1 more
GBenign/Likely benign
MYL3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 8
+2 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GLikely benign
MYL3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MYL3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MYL3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MYL3
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYL3
(G74R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GBenign/Likely benign
MYL3
(V156L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYL3
(A2P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYL3
(V79I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYL3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign
MYL3
(M149T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
MYL3
(A57D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
MYL3
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
MYL3
(E177G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MYL3
(A57G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYL3
(M173V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYL3
(V156M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MYL3
(R94H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
MYL3
(E143K)
Single nucleotide variant
(missense variant)
MYL3-related condition
+6 more
GConflicting classifications of pathogenicity
MYL3
(R154H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MYL3
(M149V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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