U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R141W +3 more)
Single nucleotide variant
(missense variant)
Familial isolated dilated cardiomyopathy
+8 more
GPathogenic
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
FLNC
(S78N)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
FLNC
(R164W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+6 more
GUncertain significance
FLNC
(M370V)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
FLNC
Deletion
(splice acceptor variant)
Primary dilated cardiomyopathy
GUncertain significance
FLNC
(N1366S)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GConflicting classifications of pathogenicity
FLNC
(V1732M)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R1770Q +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
NEBL
(V137I +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
NEBL
(R613*)
Single nucleotide variant
(nonsense +1 more)
not specified
+3 more
GUncertain significance
NEBL
(R179*)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
NEBL
(Y89*)
Single nucleotide variant
(nonsense +1 more)
NEBL-related condition
+7 more
GConflicting classifications of pathogenicity
LDB3
(A698T +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RBM20
(E913K)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
RBM20
(P1039S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
BAG3
(R123*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1HH
+4 more
GPathogenic/Likely pathogenic
ABCC9
(L1524fs)
Indel
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
ABCC9
(R984C +1 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
TSFM
(Q286* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MYH6
(G1826N)
Indel
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYH6
(A1443D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
MYH7
(E525K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GPathogenic/Likely pathogenic
TPM1
(D159N +2 more)
Single nucleotide variant
(missense variant)
Familial cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
FLII
(R1185C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TAFAZZIN
(G116D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination