"Counsyl"[submitter] AND "LOC129998796"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553401	NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)	LOC129998796, PEX1	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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
Select item 189106	NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	LOC129998796, PEX1 (M1I)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 371746	NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	LOC129998796, PEX1 (M1T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic
Select item 371688	NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	LOC129998796, PEX1 (M1R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 552166	NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	LOC129998796, PEX1 (M1L)	Single nucleotide variant (missense variant +2 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 371744	NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	LOC129998796, PEX1 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic

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