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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806426, TTN
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+7 more
GBenign
TTN-AS1, LOC126806426
+1 more
(P16243S +5 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
+11 more
GConflicting classifications of pathogenicity
LOC126806426, TTN
+1 more
(R14587H +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, LOC126806426
+1 more
Single nucleotide variant
(intron variant)
not specified
GLikely benign
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