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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
GPathogenic
NSD1
(S1912F +6 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GLikely pathogenic