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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MACF1
(R1196Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MACF1
(P5017L +1 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GConflicting classifications of pathogenicity