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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(Q34238* +5 more)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
+14 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(C31712R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R27105* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R26562* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R23868* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+10 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(W18000* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 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
(W1278C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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