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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001334, PLEC
(S399L +6 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
LOC130001334, PLEC
(L397Q +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance