"GeneDx"[submitter] AND "FBXO28"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 3368496	NM_015176.4(FBXO28):c.44_55del (p.Gly15_Gly18del)	FBXO28, LOC129932579	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3375986	NM_015176.4(FBXO28):c.332G>T (p.Arg111Met)	FBXO28 (R111M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370009	NM_015176.4(FBXO28):c.549T>A (p.Tyr183Ter)	FBXO28 (Y183*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3364445	NM_015176.4(FBXO28):c.622A>G (p.Met208Val)	FBXO28 (M208V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3373034	NM_015176.4(FBXO28):c.638A>G (p.Glu213Gly)	FBXO28 (E213G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366226	NM_015176.4(FBXO28):c.733C>G (p.Leu245Val)	FBXO28 (L245V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2582151	NM_015176.4(FBXO28):c.1033C>T (p.Pro345Ser)	FBXO28 (P345S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic