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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEXN
(E528del +1 more)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 20
+6 more
GUncertain significance
NEXN
(M540T +1 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
LMNA
(E290K +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNT2
(V273I +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+3 more
GUncertain significance
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R144W +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+7 more
GConflicting classifications of pathogenicity
RYR2
(A567P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
SOS1
Microsatellite
(inframe_insertion)
Fibromatosis, gingival, 1
+3 more
GUncertain significance
C2orf49, FHL2
(R113C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
FHL2
(G48D)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A19691fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TTN, TTN-AS1
(R21201* +5 more)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
+10 more
GPathogenic/Likely pathogenic
TTN
(E8630fs +2 more)
Microsatellite
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GPathogenic/Likely pathogenic
LOC101927055, TTN
(M1529fs +1 more)
Microsatellite
(frameshift variant +1 more)
Primary dilated cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNC1
(V9I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 13
+3 more
GUncertain significance
DSP
(N1726K)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
LAMA4
(R717K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+5 more
GConflicting classifications of pathogenicity
TBX20
(P332S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TBX20
(G70S)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
MYPN
(P87A)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1KK
+4 more
GUncertain significance
MYPN
(T423M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC110121486, LDB3
(G145S +1 more)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 4
+3 more
GUncertain significance
RBM20
(L100F)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
(E913K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
BAG3
(I94F)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
BAG3
(Y205fs)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
BAG3
(R294H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+4 more
GUncertain significance
BAG3
(R309*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GPathogenic
BAG3
(P545R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PKP2
(I789V +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 9
+5 more
GConflicting classifications of pathogenicity
PKP2
(T734A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PKP2
(N468K +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 9
+4 more
GUncertain significance
MYH7
(K1923E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
MHRT, MYH7
(E1501*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GUncertain significance
MYH7
(T215I)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GLikely pathogenic
TPM1
(E78Q +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
TNNI3
(R69fs)
Deletion
(frameshift variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(splice donor variant)
Primary dilated cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
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