C3550234[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582386	NM_001351132.2(PEX5):c.147+4A>G	PEX5 (S51G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B +2 more	GLikely pathogenic
Select item 1361478	NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)	PEX5 (I222V +1 more)	Single nucleotide variant (missense variant +1 more)	Rhizomelic chondrodysplasia punctata type 5 +2 more	GUncertain significance
Select item 1031131	NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)	PEX5 (R256W +5 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 1014978	NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro)	PEX5 (L306P +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 9143	NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	PEX5 (N489K +7 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 310435	NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	PEX5 (M626I +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance

ClinVar