C1850100[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341307	NM_012179.4(FBXO7):c.122+9G>A	FBXO7	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 518326	NM_012179.4(FBXO7):c.122+272T>G	FBXO7 (L12R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 195275	NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)	FBXO7 (M115I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 341311	NM_012179.4(FBXO7):c.540A>G (p.Pro180=)	FBXO7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 341312	NM_012179.4(FBXO7):c.693C>T (p.Ser231=)	FBXO7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 341314	NM_012179.4(FBXO7):c.949C>T (p.Leu317=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome +1 more	GBenign
Select item 341317	NM_012179.4(FBXO7):c.1144+9C>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GConflicting classifications of pathogenicity

ClinVar