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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(A34064T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P30726S +5 more)
Single nucleotide variant
(missense variant)
TTN-related myopathy
+14 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P27620S +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
GUncertain significance
TTN, TTN-AS1
(K16664* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GLikely pathogenic
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