C0282527[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548004	NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	GATAD1, PEX1 (N1044K +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 282718	NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	GATAD1, PEX1 (D1168G +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 284663	NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	PEX1, GATAD1 (A1036S +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +5 more	GConflicting classifications of pathogenicity
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic
Select item 93105	NM_000466.3(PEX1):c.2331C>A (p.Gly777=)	PEX1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 971689	NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	PEX1 (V734I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GConflicting classifications of pathogenicity
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic
Select item 7517	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	PEX1 (L664P +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1B +4 more	GLikely pathogenic
Select item 493456	NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	PEX1 (T527A +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +5 more	GConflicting classifications of pathogenicity
Select item 93112	NM_000466.3(PEX1):c.358-15G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +5 more	GBenign