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Items: 1 to 100 of 1122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYBPC3
Deletion
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYBPC3
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 4
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Deletion
(intron variant)
Cardiomyopathy
GLikely benign
MYBPC3
(R1271Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MYBPC3
(R1271*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 4
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(V1270L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
MYBPC3
(R1267H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(R1267G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(R1267C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
MYBPC3
(C1264R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(R1263W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYBPC3
(E1261K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYBPC3
(A1255T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYBPC3
Duplication
(inframe_insertion)
Cardiovascular phenotype
+6 more
GPathogenic
MYBPC3
(I1250M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYBPC3
(G1248R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(C1244Y)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYBPC3
(E1239G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GBenign/Likely benign
MYBPC3
(Q1233*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
MYBPC3
(F1230fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+1 more
GPathogenic
MYBPC3
(M1229T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(M1229K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(R1228H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYBPC3
(R1228C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYBPC3
(A1225T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
MYBPC3
(L1221P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(D1220N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MYBPC3
(W1214*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
MYBPC3
(K1211N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(P1210T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Deletion
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+4 more
GPathogenic
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
(R1205Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
MYBPC3
(C1202S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
MYBPC3
(M1199T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(M1199V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
MYBPC3
(A1194V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
(A1194T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GBenign/Likely benign
MYBPC3
(S1191L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYBPC3
(R1190H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
MYBPC3
(R1190C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
(Q1185H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(F1183L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(S1182R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(A1180T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(E1179K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
MYBPC3
(F1177L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYBPC3
(K1173R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYBPC3
(Y1172H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYBPC3
(N1171S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
MYBPC3
(P1169L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYBPC3
(G1164R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(V1158I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYBPC3
(P1157L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(T1153A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(A1151V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
MYBPC3
(D1149V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(D1149N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYBPC3
(V1145I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(V1139I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MYBPC3
(R1138H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
MYBPC3
(R1138C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
MYBPC3
(Y1136C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
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