"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "PEX - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683990	NM_000287.4(PEX6):c.2663G>A (p.Arg888His)	PEX6 (R800H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +4 more	GConflicting classifications of pathogenicity
Select item 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	PEX6-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 224321	NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	PEX6 (E439fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +5 more	GPathogenic
Select item 288713	NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)	PEX6 (T407N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973865	NM_000287.4(PEX6):c.882+1G>A	PEX6	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GPathogenic

ClinVar