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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806429, TTN
(I6725M +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(K5469T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806429, TTN
(R6369Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
LOC126806429, TTN
(T6659M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GBenign/Likely benign
LOC126806429, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
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