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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11A
(L100W +6 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(L12*)
Single nucleotide variant
(nonsense)
Dias-Logan syndrome
GPathogenic