Related gene-specific medical variations for Gene (Select 8504) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065043	NM_003630.3(PEX3):c.74G>T (p.Gly25Val)	PEX3 (G25V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely pathogenic
Select item 2434657	NM_003630.3(PEX3):c.842A>G (p.Asn281Ser)	PEX3 (N281S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432570	NM_003630.3(PEX3):c.332-2A>G	PEX3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1324884	NM_003630.3(PEX3):c.130G>T (p.Glu44Ter)	PEX3 (E44*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 591848	NM_003630.3(PEX3):c.544_545del (p.Val182fs)	PEX3 (V182fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 100845	NM_003630.3(PEX3):c.184C>A (p.Gln62Lys)	PEX3 (Q62K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar