"Genome-Nilou Lab"[submitter] AND "PEX6"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92787	NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)	PEX6 (P939Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 92786	NM_000287.4(PEX6):c.2814G>A (p.Glu938=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign
Select item 1181155	NM_000287.4(PEX6):c.2667-48G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign
Select item 167463	NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)	PEX6 (A809V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 92785	NM_000287.4(PEX6):c.2364G>A (p.Val788=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 92781	NM_000287.4(PEX6):c.1961+20G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 559074	NM_000287.4(PEX6):c.1885-24G>A	PEX6	Single nucleotide variant (intron variant)	Heimler syndrome 2 +3 more	GBenign
Select item 933949	NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)	PEX6 (R458C +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GUncertain significance
Select item 92780	NM_000287.4(PEX6):c.1480-5C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 92791	NM_000287.4(PEX6):c.883-3T>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 92789	NM_000287.4(PEX6):c.399G>T (p.Val133=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign