ClinVar for MedGen (Select 1379481) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029735	NM_003630.3(PEX3):c.16T>C (p.Trp6Arg)	PEX3 (W6R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10B	GUncertain significance
Select item 839350	NM_003630.3(PEX3):c.798A>T (p.Glu266Asp)	PEX3 (E266D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 390240	NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)	PEX3 (G331R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10B +1 more	GConflicting classifications of pathogenicity
Select item 390238	NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)	PEX3 (R300*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 10B	GPathogenic
Select item 259107	NM_003630.3(PEX3):c.524-19T>C	PEX3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 259105	NM_003630.3(PEX3):c.206-14del	PEX3	Deletion (intron variant)	not provided +3 more	GBenign

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