"Baylor Genetics"[submitter] AND "LOC129998796"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1451521	NM_000466.3(PEX1):c.56_80del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 2677626	NM_000466.3(PEX1):c.56_57del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 1 +1 more	GPathogenic
Select item 2677618	NM_000466.3(PEX1):c.43del (p.Ala15fs)	LOC129998796, PEX1 (A15fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677608	NM_000466.3(PEX1):c.8dup (p.Ser4fs)	LOC129998796, PEX1 (S4fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677627	NM_000466.3(PEX1):c.4_5del (p.Trp2fs)	LOC129998796, PEX1 (W2fs)	Microsatellite (frameshift variant +2 more)	Heimler syndrome 1	GLikely pathogenic
Select item 558040	NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	LOC129998796, PEX1 (W2*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic

ClinVar