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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Duplication
(nonsense)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
(K14008fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN-AS1, TTN
(S19608F +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TTN, TTN-AS1
(R21485* +5 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
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