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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN-AS1, TTN
(R20026* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+7 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(F11265L +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
GUncertain significance
TTN, TTN-AS1
(A16625S +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(I15927V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806433, TTN
(R2320H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
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