"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FBXO7"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 748594	NM_012179.4(FBXO7):c.465G>A (p.Ala155=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1444906	NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu)	FBXO7 (S174L +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 1347968	NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg)	FBXO7 (P111R +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 1302395	NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser)	FBXO7 (N154S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 776097	NM_012179.4(FBXO7):c.1221G>A (p.Pro407=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1433610	NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu)	FBXO7 (S384L +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome +1 more	GUncertain significance
Select item 597905	NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile)	FBXO7 (V485I +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome +1 more	GUncertain significance
Select item 1153556	NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser)	FBXO7 (G385S +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome +1 more	GLikely benign
Select item 640811	NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs)	FBXO7 (R399fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance