"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MACF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1314745	NM_012090.5(MACF1):c.35G>A (p.Arg12Gln)	MACF1 (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1607147	NM_001394062.1(MACF1):c.2307G>C (p.Leu769=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 1619756	NM_001394062.1(MACF1):c.2793C>T (p.Val931=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1635650	NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1675358	NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser)	MACF1 (N2320S +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 1570216	NM_001394062.1(MACF1):c.13641A>G (p.Glu4547=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 726620	NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign

ClinVar