"PLK4-related microcephaly and growth failure with or without ocular f - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989335	NM_014264.5(PLK4):c.126+1G>A	PLK4	Single nucleotide variant (splice donor variant)	PLK4-related microcephaly and growth failure with or without ocular features	GLikely pathogenic
Select item 989336	NM_014264.5(PLK4):c.1951C>T (p.Pro651Ser)	PLK4 (P610S +2 more)	Single nucleotide variant (missense variant)	PLK4-related microcephaly and growth failure with or without ocular features	GUncertain significance