"GeneDx"[submitter] AND "ARF3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579832	NM_001659.3(ARF3):c.452G>A (p.Arg151His)	ARF3 (R114H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372813	NM_001659.3(ARF3):c.415A>G (p.Ile139Val)	ARF3 (I102V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Hypotonia +18 more	GPathogenic/Likely pathogenic
Select item 1304691	NM_001659.3(ARF3):c.240C>T (p.His80=)	ARF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1221010	NM_001659.3(ARF3):c.149-14dup	ARF3	Duplication (intron variant)	not provided	GBenign
Select item 1697210	NM_001659.3(ARF3):c.139C>T (p.Pro47Ser)	ARF3 (P47S)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 3368777	NM_001659.3(ARF3):c.59T>C (p.Ile20Thr)	ARF3 (I20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878713	NM_001659.3(ARF3):c.56G>A (p.Arg19His)	ARF3 (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378073	NM_001659.3(ARF3):c.55C>T (p.Arg19Cys)	ARF3 (R19C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3360894	NM_001659.3(ARF3):c.445C>A (p.Arg149Ser)	ARF3 (R112S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance