"Ambry Genetics"[submitter] AND "PEX2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2477993	NM_000318.3(PEX2):c.811A>G (p.Ser271Gly)	PEX2 (S271G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 968036	NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)	PEX2 (G248R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 595546	NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)	PEX2 (S233N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GUncertain significance
Select item 1414749	NM_000318.3(PEX2):c.635A>G (p.Asn212Ser)	PEX2 (N212S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 2048343	NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)	PEX2 (I211T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 2330765	NM_000318.3(PEX2):c.631A>C (p.Ile211Leu)	PEX2 (I211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 504137	NM_000318.3(PEX2):c.624dup (p.Pro209fs)	PEX2 (P209fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 500948	NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)	PEX2 (C184Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967091	NM_000318.3(PEX2):c.517A>G (p.Ile173Val)	PEX2 (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1494640	NM_000318.3(PEX2):c.482G>A (p.Gly161Glu)	PEX2 (G161E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2300075	NM_000318.3(PEX2):c.479G>A (p.Arg160Lys)	PEX2 (R160K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1025275	NM_000318.3(PEX2):c.466A>G (p.Ile156Val)	PEX2 (I156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2202209	NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)	PEX2 (L146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 860482	NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)	PEX2 (R125Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 840122	NM_000318.3(PEX2):c.331A>G (p.Ile111Val)	PEX2 (I111V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 288695	NM_000318.3(PEX2):c.322G>C (p.Val108Leu)	PEX2 (V108L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 598165	NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)	PEX2 (Q102K)	Single nucleotide variant (missense variant)	PEX2-related condition +3 more	GUncertain significance
Select item 596242	NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)	PEX2 (R94S)	Single nucleotide variant (missense variant)	PEX2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1428721	NM_000318.3(PEX2):c.205A>G (p.Ile69Val)	PEX2 (I69V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 1025622	NM_000318.3(PEX2):c.152G>A (p.Arg51His)	PEX2 (R51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 908441	NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)	PEX2 (R51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 965038	NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)	PEX2 (G47A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GUncertain significance
Select item 1063228	NM_000318.3(PEX2):c.23C>T (p.Ala8Val)	PEX2 (A8V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 288984	NM_000318.3(PEX2):c.19A>C (p.Asn7His)	PEX2 (N7H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 24