"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GUncertain significance
Select item 360922	NM_000466.3(PEX1):c.2584-10del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders +6 more	GConflicting classifications of pathogenicity
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +10 more	GPathogenic
Select item 93105	NM_000466.3(PEX1):c.2331C>A (p.Gly777=)	PEX1	Single nucleotide variant (synonymous variant)	Heimler syndrome 1 +5 more	GBenign
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1 +9 more	GPathogenic
Select item 129882	NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)	PEX1 (I696M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 493456	NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	PEX1 (T527A +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GConflicting classifications of pathogenicity
Select item 93112	NM_000466.3(PEX1):c.358-15G>A	PEX1	Single nucleotide variant (intron variant)	Heimler syndrome 1 +5 more	GBenign

ClinVar