"Revvity Omics, Revvity"[submitter] AND "PEX1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324878	NM_000466.3(PEX1):c.3310_3311insGT (p.Leu1104fs)	GATAD1, PEX1 (L1047fs +2 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2434651	NM_000466.3(PEX1):c.3265C>T (p.His1089Tyr)	GATAD1, PEX1 (H1032Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495880	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	GATAD1, PEX1 (R998* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1462221	NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe)	GATAD1, PEX1 (L786F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 371720	NM_000466.3(PEX1):c.2798dup (p.Pro934fs)	GATAD1, PEX1 (P934fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +4 more	GPathogenic/Likely pathogenic
Select item 2689676	NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)	PEX1 (I695T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265395	NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	PEX1 (R872* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +7 more	GPathogenic
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +10 more	GPathogenic
Select item 1935735	NM_000466.3(PEX1):c.2226G>C (p.Gln742His)	PEX1 (Q534H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +9 more	GPathogenic
Select item 1323432	NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)	PEX1 (M487fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1403359	NM_000466.3(PEX1):c.2039del (p.Pro680fs)	PEX1 (P680fs +1 more)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 2689677	NM_000466.3(PEX1):c.2019C>G (p.Val673=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 93102	NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	PEX1	Duplication (inframe_insertion +1 more)	Heimler syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 1458579	NM_000466.3(PEX1):c.1891del (p.Ala631fs)	PEX1 (A423fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 558642	NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)	PEX1 (K406fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1324876	NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)	PEX1 (Q263* +1 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1324879	NM_000466.3(PEX1):c.1393_1394del (p.Val465fs)	PEX1 (V257fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1324877	NM_000466.3(PEX1):c.1099del (p.Gln367fs)	PEX1 (Q159fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder due to PEX1 defect +3 more	GPathogenic/Likely pathogenic
Select item 188910	NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	PEX1 (Q261fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +6 more	GPathogenic/Likely pathogenic
Select item 810635	NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	PEX1 (R135*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +3 more	GPathogenic
Select item 2677608	NM_000466.3(PEX1):c.8dup (p.Ser4fs)	LOC129998796, PEX1 (S4fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 22