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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
(D1520N +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+4 more
GBenign/Likely benign
TCOF1
(K1381fs +5 more)
Microsatellite
(frameshift variant)
Treacher Collins syndrome 1
+2 more
GPathogenic