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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(E290K +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNT2
(R144W +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+7 more
GConflicting classifications of pathogenicity
TTN
(E8630fs +2 more)
Microsatellite
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GPathogenic/Likely pathogenic
DSP
(R734fs)
Deletion
(frameshift variant)
Myocarditis
GLikely pathogenic
DSP
(R1458*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GPathogenic/Likely pathogenic
BAG3
(Y205fs)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
BAG3
(R309*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GPathogenic
MYH7
(T215I)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GLikely pathogenic
TNNI3
(R69fs)
Deletion
(frameshift variant)
not specified
+8 more
GConflicting classifications of pathogenicity
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