C1842563[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 898183	NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys)	ARFGEF2 (R232C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 2439149	NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)	ARFGEF2 (T243R)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 506913	NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)	ARFGEF2 (R257K)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1323380	NM_006420.3(ARFGEF2):c.1072C>T (p.Gln358Ter)	ARFGEF2 (Q358*)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 2434911	NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)	ARFGEF2 (R940* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
Select item 2223474	NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)	ARFGEF2 (C1690G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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