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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 9
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q34238* +5 more)
Single nucleotide variant
(nonsense)
Neuromuscular disease
+14 more
GConflicting classifications of pathogenicity