"FBXO47-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035856	NM_001008777.3(FBXO47):c.1152T>A (p.Phe384Leu)	FBXO47 (F384L)	Single nucleotide variant (missense variant)	FBXO47-related disorder	GLikely benign
Select item 3049241	NM_001008777.3(FBXO47):c.802G>T (p.Val268Phe)	FBXO47 (V268F)	Single nucleotide variant (missense variant)	FBXO47-related disorder	GLikely benign
Select item 3039518	NM_001008777.3(FBXO47):c.657T>C (p.Cys219=)	FBXO47	Single nucleotide variant (synonymous variant)	FBXO47-related disorder	GLikely benign
Select item 3035263	NM_001008777.3(FBXO47):c.33G>A (p.Leu11=)	FBXO47	Single nucleotide variant (synonymous variant)	FBXO47-related disorder	GBenign

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