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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806429, TTN
(I6725M +2 more)
Single nucleotide variant
(missense variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(M5472I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126806429, TTN
(M6716K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GBenign/Likely benign
LOC126806429, TTN
(N6650S +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(F5386L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+7 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(R5338Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
LOC126806429, TTN
(R6582* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1G
+3 more
GUncertain significance
LOC126806429, TTN
(P6580S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
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