"Revvity Omics, Revvity"[submitter] AND "MACF1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433590	NM_001394062.1(MACF1):c.1147G>C (p.Gly383Arg)	MACF1 (G383R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433589	NM_001394062.1(MACF1):c.1522C>A (p.Gln508Lys)	MACF1 (Q508K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433587	NM_001394062.1(MACF1):c.3698G>A (p.Arg1233Gln)	MACF1 (R1233Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433588	NM_001394062.1(MACF1):c.4379T>G (p.Leu1460Trp)	MACF1 (L1460W +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433586	NM_001394062.1(MACF1):c.13663_13664dup (p.Ala4556fs)	MACF1 (A2494fs +1 more)	Duplication (frameshift variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433592	NM_001394062.1(MACF1):c.21196+1G>A	MACF1	Single nucleotide variant (splice donor variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433591	NM_001394062.1(MACF1):c.22286T>A (p.Ile7429Asn)	MACF1 (I132N +3 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance