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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF6
(C85*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
ADGRG4, ACTRT1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic