C3542026[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556544	NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)	PEX2	Single nucleotide variant (stop lost)	Peroxisome biogenesis disorder 5B +1 more	GUncertain significance
Select item 551715	NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)	PEX2 (S295*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5B +1 more	GUncertain significance
Select item 554426	NM_000318.3(PEX2):c.857_859del (p.Glu286del)	PEX2 (E286del)	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 5B +1 more	GUncertain significance
Select item 371741	NM_000318.3(PEX2):c.834_838del (p.Phe278fs)	PEX2 (F278fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GLikely pathogenic
Select item 557949	NM_000318.3(PEX2):c.782A>G (p.His261Arg)	PEX2 (H261R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 553907	NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)	PEX2	Deletion (inframe_indel)	Peroxisome biogenesis disorder 5B +1 more	GUncertain significance
Select item 551636	NM_000318.3(PEX2):c.502_503del (p.Glu168fs)	PEX2 (E168fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5B +1 more	GLikely pathogenic
Select item 552895	NM_000318.3(PEX2):c.472del (p.Leu158fs)	PEX2 (L158fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5B +1 more	GLikely pathogenic
Select item 549898	NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	PEX2 (R125*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 554942	NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	PEX2 (R119fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 13704	NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	PEX2 (R119*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GPathogenic
Select item 556834	NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)	PEX2 (E118del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 287499	NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	PEX2	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 553956	NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)	PEX2 (Q102*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5B +1 more	GLikely pathogenic
Select item 556923	NM_000318.3(PEX2):c.-17-2A>G	PEX2	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GConflicting classifications of pathogenicity