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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806429, TTN
(A6746T +2 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+7 more
GBenign/Likely benign
LOC126806429, TTN
(I6725M +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(R6386Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+5 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(V5456L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GBenign/Likely benign
LOC126806429, TTN
(P6666S +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
LOC126806429, TTN
(D5411G +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
LOC126806429, TTN
(T6324N +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely 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)
Dilated cardiomyopathy 1G
+6 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GConflicting classifications of pathogenicity
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