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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(V34002I +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GConflicting classifications of pathogenicity
TTN
(R8711* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy 9
+3 more
GLikely pathogenic