"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PEX16"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259547	NM_004813.4(PEX16):c.873T>C (p.Tyr291=)	PEX16	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 304788	NM_004813.4(PEX16):c.760G>C (p.Val254Leu)	PEX16 (V254L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 259546	NM_004813.4(PEX16):c.542-16C>T	PEX16	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1430612	NM_004813.4(PEX16):c.492G>C (p.Gln164His)	PEX16 (Q164H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +2 more	GUncertain significance
Select item 500755	NM_004813.4(PEX16):c.461A>G (p.Asp154Gly)	PEX16 (D154G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +5 more	GUncertain significance
Select item 259544	NM_004813.4(PEX16):c.307G>A (p.Val103Met)	PEX16 (V103M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 304797	NM_004813.4(PEX16):c.303C>T (p.Ala101=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +2 more	GBenign

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