"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343521	NM_001351132.2(PEX5):c.64G>A (p.Gly22Arg)	PEX5 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1722368	NM_001351132.2(PEX5):c.127_128delinsTT (p.Gly43Leu)	PEX5 (G43L)	Indel (missense variant)	not specified	GUncertain significance
Select item 1098757	NM_001351132.2(PEX5):c.551+71C>T	PEX5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2691277	NM_001351132.2(PEX5):c.846+1G>A	PEX5	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 310427	NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)	PEX5 (N520S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2503961	NM_001351132.2(PEX5):c.1645C>T (p.Leu549Phe)	PEX5 (L504F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1021033	NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)	PEX5 (R512W +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

ClinVar