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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935184, TTN
+1 more
(V35177M +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
LOC129935184, TTN
+1 more
(R32606H +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance