"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130053	NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)	PRX (G1132R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +5 more	GBenign
Select item 130050	NM_181882.3(PRX):c.2763A>G (p.Ile921Met)	PRX (I921M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign
Select item 130049	NM_181882.3(PRX):c.2655T>C (p.Pro885=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 130048	NM_181882.3(PRX):c.2645T>C (p.Val882Ala)	PRX (V882A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign
Select item 242179	NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	PRX (V525A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 130051	NM_181882.3(PRX):c.306C>T (p.Thr102=)	PRX	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

ClinVar