"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PEX10"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262787	NM_002617.4(PEX10):c.*11G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1163122	NM_002617.4(PEX10):c.752T>C (p.Leu251Pro)	PEX10 (L107P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 197385	NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)	PEX10 (G258R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 2198934	NM_002617.4(PEX10):c.695T>C (p.Met232Thr)	PEX10 (M107T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 559056	NM_002617.4(PEX10):c.435G>A (p.Met145Ile)	PEX10 (M145I +1 more)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GBenign
Select item 559057	NM_002617.4(PEX10):c.431G>C (p.Trp144Ser)	PEX10 (W144S)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1505575	NM_002617.4(PEX10):c.428G>A (p.Arg143His)	PEX10 (R143H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 296280	NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	PEX10 (G140R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GConflicting classifications of pathogenicity
Select item 2142984	NM_002617.4(PEX10):c.374G>A (p.Arg125Gln)	PEX10 (R125Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 559058	NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)	PEX10 (L111P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GBenign
Select item 129884	NM_002617.4(PEX10):c.291A>G (p.Thr97=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 296283	NM_002617.4(PEX10):c.275G>A (p.Arg92His)	PEX10 (R92H)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GUncertain significance
Select item 592470	NM_002617.4(PEX10):c.116C>T (p.Ala39Val)	PEX10 (A39V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 559059	NM_002617.4(PEX10):c.113-26C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284321	NM_002617.4(PEX10):c.6C>G (p.Ala2=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GBenign/Likely benign