FBXO17[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2403804	NM_024907.7(FBXO17):c.790G>A (p.Ala264Thr)	FBXO17 (A273T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460283	NM_024907.7(FBXO17):c.754G>A (p.Gly252Arg)	FBXO17 (G252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233856	NM_024907.7(FBXO17):c.706T>C (p.Phe236Leu)	FBXO17 (F236L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093605	NM_024907.7(FBXO17):c.689G>A (p.Arg230Gln)	FBXO17 (R239Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525231	NM_024907.7(FBXO17):c.659C>T (p.Pro220Leu)	FBXO17 (P220L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278097	NM_024907.7(FBXO17):c.655G>A (p.Asp219Asn)	FBXO17 (D228N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 218800	NM_024907.7(FBXO17):c.644C>A (p.Ser215Ter)	FBXO17 (S215* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2296984	NM_024907.7(FBXO17):c.610C>A (p.Leu204Met)	FBXO17 (L204M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093604	NM_024907.7(FBXO17):c.544T>C (p.Cys182Arg)	FBXO17 (C182R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093603	NM_024907.7(FBXO17):c.529G>A (p.Ala177Thr)	FBXO17 (A177T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278096	NM_024907.7(FBXO17):c.502G>A (p.Gly168Arg)	FBXO17 (G168R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205436	NM_024907.7(FBXO17):c.455C>G (p.Ser152Cys)	FBXO17 (S152C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274652	NM_024907.7(FBXO17):c.382G>A (p.Gly128Arg)	FBXO17 (G128R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271349	NM_024907.7(FBXO17):c.346G>A (p.Glu116Lys)	FBXO17 (E116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093602	NM_024907.7(FBXO17):c.338C>A (p.Ser113Tyr)	FBXO17 (S122Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278098	NM_024907.7(FBXO17):c.320G>T (p.Arg107Leu)	FBXO17 (R107L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278095	NM_024907.7(FBXO17):c.319C>G (p.Arg107Gly)	FBXO17 (R107G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385717	NM_024907.7(FBXO17):c.307G>T (p.Ala103Ser)	FBXO17 (A103S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510561	NM_024907.7(FBXO17):c.250A>C (p.Ser84Arg)	FBXO17 (S84R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263799	NM_024907.7(FBXO17):c.215G>C (p.Arg72Pro)	FBXO17 (R72P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371446	NM_024907.7(FBXO17):c.158T>G (p.Val53Gly)	FBXO17 (V62G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405662	NM_024907.7(FBXO17):c.154A>G (p.Ile52Val)	FBXO17 (I61V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325447	NM_024907.7(FBXO17):c.114G>T (p.Leu38Phe)	FBXO17 (L38F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374256	NM_024907.7(FBXO17):c.56A>G (p.Asp19Gly)	FBXO17 (D28G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460754	NM_024907.7(FBXO17):c.29T>C (p.Leu10Pro)	FBXO17 (L10P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 35