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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12L
(R155Q)
Single nucleotide variant
(missense variant)
Nizon-Isidor syndrome
GUncertain significance
MED12L, P2RY12
(C1268W +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GUncertain significance