"Baylor Genetics"[submitter] AND "PEX26"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677683	NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)	LOC130066940, PEX26 (R20fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2154	NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	PEX26 (L12fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GPathogenic
Select item 1331348	NM_001127649.3(PEX26):c.34del (p.Leu12fs)	PEX26 (L12fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 2677689	NM_001127649.3(PEX26):c.71del (p.Pro24fs)	PEX26 (P24fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2157	NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	PEX26 (L45P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 2677685	NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)	PEX26 (S64fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 3240091	NM_001127649.3(PEX26):c.211dup (p.Ala71fs)	PEX26 (A71fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677688	NM_001127649.3(PEX26):c.230+1G>A	PEX26	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 2159	NM_001127649.3(PEX26):c.230+1G>T	PEX26	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GPathogenic
Select item 2158	NM_001127649.3(PEX26):c.254dup (p.Cys86fs)	PEX26 (C86fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2153	NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	PEX26 (G89R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2152	NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)	PEX26 (R98W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7B +3 more	GPathogenic
Select item 1981287	NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)	PEX26 (Y110fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2677690	NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)	PEX26 (Y110*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 954945	NM_001127649.3(PEX26):c.354del (p.Val120fs)	PEX26 (V120fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2138415	NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)	PEX26 (P117L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 449363	NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)	PEX26 (P118R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 2677681	NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)	PEX26 (L121fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 3240092	NM_001127649.3(PEX26):c.380del (p.Leu127fs)	PEX26 (L127fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677686	NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)	PEX26 (Q132*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677687	NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)	PEX26 (Q146*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2677682	NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)	PEX26 (Y156*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 928563	NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)	PEX26 (R192*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GPathogenic
Select item 2677684	NM_001127649.3(PEX26):c.814+1G>A	PEX26	Single nucleotide variant (splice donor variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic

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Items: 26