"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PEX6"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1400486	NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys)	PEX6 (R975C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 255739	NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)	PEX6 (V882I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
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 286981	NM_000287.4(PEX6):c.2095-21_2095-10del	PEX6	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2168230	NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)	PEX6 (A676T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
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 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +7 more	GConflicting classifications of pathogenicity
Select item 500941	NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)	PEX6 (A586V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 356795	NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)	PEX6 (T573I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 559075	NM_000287.4(PEX6):c.1688+30C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 167464	NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)	PEX6 (D559E +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 1498411	NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys)	PEX6 (R364C +1 more)	Single nucleotide variant (missense variant +1 more)	PEX6-related disorder +2 more	GUncertain significance
Select item 356797	NM_000287.4(PEX6):c.1234-8_1234-7dup	PEX6	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 281978	NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)	PEX6 (E391K +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 559077	NM_000287.4(PEX6):c.1046+28T>C	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559078	NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)	PEX6 (E324K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely 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 559079	NM_000287.4(PEX6):c.883-28del	PEX6	Deletion (intron variant)	not provided	GBenign
Select item 356805	NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)	PEX6 (P168L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GUncertain significance
Select item 502524	NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)	PEX6 (P136Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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
Select item 92788	NM_000287.4(PEX6):c.330C>G (p.Thr110=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 92783	NM_000287.4(PEX6):c.210G>A (p.Gly70=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign

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Items: 27