Related gene-specific medical variations for Gene (Select 23219) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093646	NM_015176.4(FBXO28):c.44G>C (p.Gly15Ala)	FBXO28, LOC129932579 (G15A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040966	NM_015176.4(FBXO28):c.-1G>C	FBXO28, LOC129932579	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO28-related disorder	GLikely benign
Select item 2639924	NM_015176.4(FBXO28):c.22C>A (p.Arg8=)	FBXO28, LOC129932579	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639923	NM_015176.4(FBXO28):c.14C>G (p.Ala5Gly)	FBXO28, LOC129932579 (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633683	NM_015176.4(FBXO28):c.20A>T (p.Glu7Val)	FBXO28, LOC129932579 (E7V)	Single nucleotide variant (missense variant +1 more)	FBXO28-related disorder	GUncertain significance
Select item 2584666	NM_015176.4(FBXO28):c.13_14delinsAA (p.Ala5Lys)	FBXO28, LOC129932579 (A5K)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy 100	GUncertain significance
Select item 1679625	NM_015176.4(FBXO28):c.703T>C (p.Ser235Pro)	FBXO28 (S235P)	Single nucleotide variant (missense variant +2 more)	FBXO28-associated epileptic encephalopathy	GUncertain significance

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