ClinVar for MedGen (Select 766915) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1411346	NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)	PEX13 (E123*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GPathogenic
Select item 1366013	NM_002618.4(PEX13):c.595T>A (p.Leu199Ile)	PEX13 (L199I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GUncertain significance
Select item 999729	NM_002618.4(PEX13):c.589C>T (p.Arg197Trp)	PEX13 (R197W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 938182	NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys)	PEX13 (Y93C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GUncertain significance
Select item 500639	NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)	PEX13, PUS10 (F30S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +3 more	GUncertain significance
Select item 499526	NM_002618.4(PEX13):c.677G>A (p.Arg226Gln)	PEX13 (R226Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 375270	NM_002618.4(PEX13):c.937T>G (p.Trp313Gly)	PEX13 (W313G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11B	GPathogenic
Select item 287094	NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	PEX13 (R294W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 196352	NM_002618.4(PEX13):c.893T>C (p.Met298Thr)	PEX13 (M298T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 7704	NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)	PEX13 (I326T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GConflicting classifications of pathogenicity