"Genome-Nilou Lab"[submitter] AND "PEX1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209637	NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)	GATAD1, PEX1 (E1134A +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209655	NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)	GATAD1, PEX1 (S1017I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1154651	NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 580960	NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	GATAD1, PEX1 (R949W +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1153638	NM_000466.3(PEX1):c.2584-10T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1B +3 more	GBenign/Likely benign
Select item 360922	NM_000466.3(PEX1):c.2584-10del	PEX1	Deletion (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 93107	NM_000466.3(PEX1):c.2584-20T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 1210451	NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)	PEX1 (Q607* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
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 1209638	NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)	PEX1 (I492T +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 129882	NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)	PEX1 (I696M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 576112	NM_000466.3(PEX1):c.1927del (p.Thr643fs)	PEX1 (T435fs +1 more)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1210453	NM_000466.3(PEX1):c.1890del (p.Ala631fs)	PEX1 (A423fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 559084	NM_000466.3(PEX1):c.1804-28G>A	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209654	NM_000466.3(PEX1):c.1716C>A (p.His572Gln)	PEX1 (H364Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 1209635	NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)	PEX1 (G355D +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
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 1210452	NM_000466.3(PEX1):c.1533del (p.Asp512fs)	PEX1 (D304fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 1177033	NM_000466.3(PEX1):c.1484-36G>A	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209636	NM_000466.3(PEX1):c.927C>G (p.His309Gln)	PEX1 (H101Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 167447	NM_000466.3(PEX1):c.473-18G>A	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GBenign
Select item 93112	NM_000466.3(PEX1):c.358-15G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +5 more	GBenign
Select item 729928	NM_000466.3(PEX1):c.147G>A (p.Val49=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 1B +3 more	GConflicting classifications of pathogenicity
Select item 256216	NM_000466.3(PEX1):c.-53C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 256215	NM_000466.3(PEX1):c.-137T>C	PEX1, RBM48 +1 more	Single nucleotide variant	not provided +3 more	GBenign/Likely benign

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Items: 25