ClinVar for MedGen (Select 1379481) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10297351.	NM_003630.3(PEX3):c.16T>C (p.Trp6Arg) GRCh37: Chr6:143772195 GRCh38: Chr6:143451058	PEX3	W6R	Peroxisome biogenesis disorder 10B	Uncertain significance (Nov 5, 2019)	criteria provided, single submitter
Select item 8393502.	NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) GRCh37: Chr6:143795973 GRCh38: Chr6:143474836	PEX3	E266D	Peroxisome biogenesis disorder 10B, Peroxisome biogenesis disorder 10A (Zellweger), not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3902403.	NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) GRCh37: Chr6:143806338 GRCh38: Chr6:143485201	PEX3	G331R	not provided, Peroxisome biogenesis disorder 10B	Conflicting interpretations of pathogenicity (Aug 27, 2021)	criteria provided, conflicting interpretations
Select item 3902384.	NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) GRCh37: Chr6:143800292 GRCh38: Chr6:143479155	PEX3	R300*	Peroxisome biogenesis disorder 10B	Pathogenic (Jul 20, 2017)	no assertion criteria provided
Select item 2591075.	NM_003630.3(PEX3):c.524-19T>C GRCh37: Chr6:143792675 GRCh38: Chr6:143471538	PEX3		Peroxisome biogenesis disorder 10B, not specified, Peroxisome biogenesis disorder 10A (Zellweger), not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2591056.	NM_003630.3(PEX3):c.206-14del GRCh37: Chr6:143784032 GRCh38: Chr6:143462895	PEX3		Peroxisome biogenesis disorder 10B, not specified, Peroxisome biogenesis disorder 10A (Zellweger), not provided	Benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts