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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(N31698del +5 more)
Microsatellite
(inframe_deletion)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Y19666* +5 more)
Single nucleotide variant
(nonsense)
Multiminicore myopathy
GPathogenic
TTN
Single nucleotide variant
(intron variant +1 more)
Centronuclear myopathy
GPathogenic/Likely pathogenic
TTN
Duplication
(nonsense)
Centronuclear myopathy
GPathogenic
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