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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNNB1, LOC126806659
(R515* +1 more)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic
CTNNB1, LOC126806659
(H517R +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CTNNB1, LOC126806659
Single nucleotide variant
(intron variant)
Pilomatrixoma
+7 more
GBenign/Likely benign
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