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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935182, TTN
+1 more
(T26410fs +5 more)
Deletion
(frameshift variant)
Tibial muscular dystrophy
+6 more
GLikely pathogenic
TTN, TTN-AS1
(Y32573* +5 more)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic/Likely pathogenic
TTN-AS1, TTN
(M24024fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GUncertain significance
TTN, TTN-AS1
(R28592* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R20249* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TTN
(E11932*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
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