C5193029[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065486	NM_001394062.1(MACF1):c.2116A>T (p.Asn706Tyr)	MACF1 (N706Y +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3065758	NM_001394062.1(MACF1):c.16804-2A>G	MACF1	Single nucleotide variant (splice acceptor variant)	Lissencephaly 9 with complex brainstem malformation	GLikely pathogenic