"Revvity Omics, Revvity"[submitter] AND "AP4E1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439137	NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys)	AP4E1 (Y17C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 699231	NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)	AP4E1 (M467V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2439138	NM_007347.5(AP4E1):c.3095+4A>C	AP4E1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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