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Links from MedGen

Items: 1 to 100 of 330

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYBPC3
(T1237fs)
Duplication
(frameshift variant)
Left ventricular noncompaction 10
+1 more
GLikely pathogenic
MYBPC3
(K368*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 4
+1 more
GLikely pathogenic
MYBPC3
(R835C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(Q998H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 10
GUncertain significance
MYBPC3
(Q76*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 4
+2 more
GPathogenic
MYBPC3
(P910fs)
Deletion
(frameshift variant)
Left ventricular noncompaction 10
+2 more
GPathogenic
MYBPC3
(P640H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
GUncertain significance
MYBPC3
(F12S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
(A848V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 10
+2 more
GBenign/Likely benign
MYBPC3
(K301Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy
+2 more
GLikely pathogenic
MYBPC3
(R939P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(L930V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+3 more
GUncertain significance
MYBPC3
(D389E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+3 more
GUncertain significance
MYBPC3
(A950E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+2 more
GUncertain significance
MYBPC3
(T1114A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
MYBPC3
(K485R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
(T529S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYBPC3
(P644S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
GUncertain significance
MYBPC3
(F412L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
GUncertain significance
MYBPC3
(V1038M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYBPC3
(E165K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Deletion
(inframe_deletion)
Hypertrophic cardiomyopathy 4
+1 more
GLikely pathogenic
MYBPC3
(A517S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYBPC3
(Y333*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+2 more
GPathogenic
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
MYBPC3
(D198N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+2 more
GUncertain significance
MYBPC3
(A776V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GLikely benign
MYBPC3
(R972Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYBPC3
(R733L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 4
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(G45R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 4
+2 more
GLikely benign
MYBPC3
(G800E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
MYBPC3
(R1271Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
MYBPC3
(A534V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYBPC3
(G903D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(P459S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 4
+2 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(5 prime UTR variant)
Left ventricular noncompaction 10
+1 more
GUncertain significance
MYBPC3
(P608A)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
(T1101A)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(G664V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 10
+2 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction 10
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction 10
+1 more
GUncertain significance
MYBPC3
(I95L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYBPC3
(Y749C)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
+1 more
GPathogenic
MYBPC3
(T274M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(R1073W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(I603M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(E894D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
MYBPC3
(A1151V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
MYBPC3
(L455F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 10
+3 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 4
+1 more
GLikely pathogenic
MYBPC3
(R41fs)
Duplication
(frameshift variant)
Left ventricular noncompaction 10
GLikely pathogenic
MYBPC3
(K811R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYBPC3
(S18fs)
Duplication
(frameshift variant)
Left ventricular noncompaction 10
+1 more
GLikely pathogenic
MYBPC3
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
MYBPC3
(D91N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(G1093S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+2 more
GUncertain significance
MYBPC3
(K500T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+2 more
GUncertain significance
MADD, MYBPC3
Copy number loss
Left ventricular noncompaction 10
GPathogenic
MYBPC3
(S858R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
MYBPC3
(A693S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYBPC3
(P4L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
MYBPC3
(D228E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(I415L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYBPC3
(R726C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYBPC3
(R1037C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYBPC3
(D462E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+3 more
GUncertain significance
MYBPC3
(R281Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYBPC3
(T1109N)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(A1077S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
MYBPC3
(T1057M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
MYBPC3
(G868S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+5 more
GUncertain significance
MYBPC3
(P453A)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+3 more
GUncertain significance
MYBPC3
(P976R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 4
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(Y842*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
MYBPC3
(G407R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+2 more
GUncertain significance
MYBPC3
(S200G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+5 more
GConflicting classifications of pathogenicity
MYBPC3
(R1120C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+5 more
GUncertain significance
MYBPC3
(G922E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
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