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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935182, TTN
+1 more
(K35385T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(T26410fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+6 more
GLikely pathogenic
LOC129935182, TTN
+1 more
(G35340S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
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