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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLTP1
(G1016S)
Single nucleotide variant
(missense variant)
Alkuraya-Kucinskas syndrome
+1 more
GUncertain significance
BLTP1
(R3598Q +1 more)
Single nucleotide variant
(missense variant)
Alkuraya-Kucinskas syndrome
GUncertain significance