"GeneDx"[submitter] AND "LOC114803468"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699562	NM_001394062.1(MACF1):c.14549A>G (p.Tyr4850Cys)	LOC114803468, MACF1 (Y2788C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364951	NM_001394062.1(MACF1):c.14614A>G (p.Thr4872Ala)	LOC114803468, MACF1 (T2810A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365941	NM_001394062.1(MACF1):c.14626C>A (p.Gln4876Lys)	LOC114803468, MACF1 (Q2814K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773141	NM_001394062.1(MACF1):c.14649T>C (p.His4883=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 2575669	NM_001394062.1(MACF1):c.14709G>T (p.Gln4903His)	LOC114803468, MACF1 (Q2841H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GUncertain significance
Select item 1699823	NM_001394062.1(MACF1):c.14858A>C (p.Glu4953Ala)	LOC114803468, MACF1 (E2891A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar