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Items: 1 to 100 of 3909

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACCS, ACCSL
+264 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+258 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+254 more
Copy number gain
See cases
GLikely pathogenic
ACP2, AGBL2
+88 more
Copy number loss
See cases
GPathogenic
ACP2, DDB2
+21 more
Copy number loss
See cases
GPathogenic
MADD, MYBPC3
Deletion
Hypertrophic cardiomyopathy 4
GPathogenic
MYBPC3
Single nucleotide variant
not provided
GBenign
MYBPC3
Single nucleotide variant
not provided
GBenign
MYBPC3
Single nucleotide variant
not provided
GBenign
MYBPC3
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy 4
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction 10
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
not provided
+2 more
GBenign/Likely benign
MYBPC3
Deletion
(3 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+3 more
GBenign/Likely benign
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction 10
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy 4
+1 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy 4
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy 4
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy 4
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
not provided
+2 more
GBenign/Likely benign
MYBPC3
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
(intron variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
(intron variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
(intron variant)
not specified
GBenign
MYBPC3
Single nucleotide variant
(intron variant)
not specified
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MYBPC3
Deletion
Hypertrophic cardiomyopathy
GPathogenic
MYBPC3
Deletion
(stop lost)
Cardiovascular phenotype
GUncertain significance
MYBPC3
Deletion
Hypertrophic cardiomyopathy
GPathogenic
MYBPC3
Deletion
Hypertrophic cardiomyopathy
GPathogenic
MYBPC3
Deletion
not specified
GUncertain significance
MYBPC3
Deletion
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(stop lost)
not provided
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
(P1273L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
MYBPC3
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GLikely benign
MYBPC3
Microsatellite
(intron variant)
not provided
+2 more
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
not provided
GBenign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 4
+3 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYBPC3
Deletion
(intron variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
not provided
GBenign
MYBPC3
Indel
(intron variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(splice donor variant)
Primary familial hypertrophic cardiomyopathy
GLikely pathogenic
MYBPC3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYBPC3
(V1272L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(V1272M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYBPC3
(R1271Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MYBPC3
(R1271P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYBPC3
(R1271*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 4
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(V1270A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(V1270G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYBPC3
(V1270M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(V1270L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYBPC3
(E1269*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 4
GPathogenic
MYBPC3
(L1268P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(L1268V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(R1267del)
Microsatellite
(inframe_deletion)
not specified
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
(R1267fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 4
+1 more
GPathogenic
MYBPC3
(R1267C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
MYBPC3
(C1266W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYBPC3
(C1266F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYBPC3
(C1266Y)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MYBPC3
Indel
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(C1266R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYBPC3
(E1265V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYBPC3
(E1265K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(E1261fs)
Indel
(frameshift variant)
Cardiovascular phenotype
+1 more
GLikely pathogenic
MYBPC3
(C1264F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYBPC3
(C1264Y)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
MYBPC3
(C1264R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(R1263Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(R1263L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYBPC3
(R1263P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYBPC3
(R1263fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GLikely pathogenic
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