"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PEX1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
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 502697	NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)	GATAD1, PEX1 (D1095N +2 more)	Single nucleotide variant (missense variant)	not provided +5 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 289972	NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	GATAD1, PEX1 (E1015A +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 963178	NM_000466.3(PEX1):c.2926+4A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 371706	NM_000466.3(PEX1):c.2859dup (p.Thr954fs)	GATAD1, PEX1 (T746fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 441031	NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)	GATAD1, PEX1 (R948Q +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 288721	NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	PEX1 (A917V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GUncertain significance
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 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 813403	NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)	PEX1 (M487fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic
Select item 909479	NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)	PEX1 (Q478R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GUncertain significance
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 909481	NM_000466.3(PEX1):c.1901-14T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 217429	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	PEX1 (R581P +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 256217	NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)	PEX1 (W507C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 498412	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	PEX1 (D417N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 785435	NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)	PEX1 (N271S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1036917	NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	PEX1 (S241P +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 197673	NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)	PEX1 (T222I +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 371782	NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	PEX1 (R183*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +4 more	GPathogenic/Likely pathogenic
Select item 371714	NM_000466.3(PEX1):c.358-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 554482	NM_000466.3(PEX1):c.358-2A>C	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GLikely pathogenic
Select item 1495205	NM_000466.3(PEX1):c.357+1G>T	PEX1	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 558237	NM_000466.3(PEX1):c.273+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 502318	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	PEX1 (G85E)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 1 +4 more	GUncertain significance
Select item 1451521	NM_000466.3(PEX1):c.56_80del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 360934	NM_000466.3(PEX1):c.-43T>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance

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Items: 30