FBXL17[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 149068	GRCh38/hg38 5q21.3-22.1(chr5:106547519-110687501)x3	EFNA5, FBXL17 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 3278043	NM_001163315.3(FBXL17):c.2063A>G (p.Tyr688Cys)	FBXL17 (Y688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274796	NM_001163315.3(FBXL17):c.1979C>T (p.Thr660Met)	FBXL17 (T660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093500	NM_001163315.3(FBXL17):c.1804T>C (p.Cys602Arg)	FBXL17 (C602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272363	NM_001163315.3(FBXL17):c.1750G>A (p.Val584Met)	FBXL17 (V584M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147771	GRCh38/hg38 5q21.3(chr5:108021878-108339280)x1	FBXL17, LOC121079955 +2 more	Copy number loss	See cases	GUncertain significance
Select item 751955	NM_001163315.3(FBXL17):c.1683T>C (p.Ile561=)	FBXL17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310440	NM_001163315.3(FBXL17):c.1675A>G (p.Met559Val)	FBXL17 (M559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295968	NM_001163315.3(FBXL17):c.1610C>T (p.Thr537Ile)	FBXL17 (T537I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775223	NM_001163315.3(FBXL17):c.1521A>G (p.Ser507=)	FBXL17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 3093499	NM_001163315.3(FBXL17):c.1489A>G (p.Met497Val)	FBXL17 (M497V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485691	NM_001163315.3(FBXL17):c.1340A>G (p.Asn447Ser)	FBXL17 (N447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568779	NM_001163315.3(FBXL17):c.1291A>T (p.Ile431Phe)	FBXL17 (I431F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729054	NM_001163315.3(FBXL17):c.1200T>C (p.Ser400=)	FBXL17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486779	NM_001163315.3(FBXL17):c.1058G>T (p.Arg353Leu)	FBXL17 (R353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240877	NM_001163315.3(FBXL17):c.958G>A (p.Asp320Asn)	FBXL17 (D320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305892	NM_001163315.3(FBXL17):c.920C>T (p.Pro307Leu)	FBXL17 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619085	NM_001163315.3(FBXL17):c.906G>C (p.Glu302Asp)	FBXL17 (E302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388604	NM_001163315.3(FBXL17):c.870G>C (p.Gln290His)	FBXL17 (Q290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235772	NM_001163315.3(FBXL17):c.866C>A (p.Ala289Asp)	FBXL17 (A289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462195	NM_001163315.3(FBXL17):c.841G>C (p.Ala281Pro)	FBXL17 (A281P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311946	NM_001163315.3(FBXL17):c.838C>G (p.Arg280Gly)	FBXL17 (R280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229152	NM_001163315.3(FBXL17):c.815C>T (p.Thr272Ile)	FBXL17 (T272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385295	NM_001163315.3(FBXL17):c.805G>T (p.Gly269Cys)	FBXL17 (G269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231277	NM_001163315.3(FBXL17):c.781C>T (p.Pro261Ser)	FBXL17 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093504	NM_001163315.3(FBXL17):c.763C>T (p.Pro255Ser)	FBXL17 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278044	NM_001163315.3(FBXL17):c.758A>G (p.Gln253Arg)	FBXL17 (Q253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280488	NM_001163315.3(FBXL17):c.755A>G (p.Glu252Gly)	FBXL17 (E252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093503	NM_001163315.3(FBXL17):c.725C>T (p.Pro242Leu)	FBXL17, LOC129994325 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237500	NM_001163315.3(FBXL17):c.719C>A (p.Pro240His)	FBXL17, LOC129994325 (P240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296852	NM_001163315.3(FBXL17):c.688G>C (p.Gly230Arg)	FBXL17, LOC129994325 (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346533	NM_001163315.3(FBXL17):c.676G>A (p.Gly226Ser)	FBXL17, LOC129994325 (G226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404073	NM_001163315.3(FBXL17):c.658T>G (p.Cys220Gly)	FBXL17 (C220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601020	NM_001163315.3(FBXL17):c.652G>T (p.Gly218Trp)	FBXL17 (G218W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541528	NM_001163315.3(FBXL17):c.644G>A (p.Cys215Tyr)	FBXL17 (C215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464675	NM_001163315.3(FBXL17):c.575C>T (p.Pro192Leu)	FBXL17, LOC129994326 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548902	NM_001163315.3(FBXL17):c.569C>T (p.Pro190Leu)	FBXL17, LOC129994326 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493847	NM_001163315.3(FBXL17):c.533T>A (p.Leu178His)	FBXL17, LOC129994326 (L178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376293	NM_001163315.3(FBXL17):c.517C>T (p.Pro173Ser)	FBXL17, LOC129994326 (P173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093502	NM_001163315.3(FBXL17):c.497C>T (p.Pro166Leu)	FBXL17, LOC129994326 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544634	NM_001163315.3(FBXL17):c.385G>T (p.Ala129Ser)	FBXL17, LOC129994326 (A129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278041	NM_001163315.3(FBXL17):c.344C>T (p.Ala115Val)	FBXL17, LOC129994326 (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780547	NM_001163315.3(FBXL17):c.305G>A (p.Arg102Gln)	FBXL17, LOC129994326 (R102Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268894	NM_001163315.3(FBXL17):c.281C>T (p.Ala94Val)	FBXL17, LOC129994326 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590584	NM_001163315.3(FBXL17):c.280G>T (p.Ala94Ser)	FBXL17, LOC129994326 (A94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093501	NM_001163315.3(FBXL17):c.268G>A (p.Ala90Thr)	FBXL17, LOC129994326 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601896	NM_001163315.3(FBXL17):c.265G>C (p.Gly89Arg)	FBXL17, LOC129994326 (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348862	NM_001163315.3(FBXL17):c.259C>T (p.Arg87Trp)	FBXL17, LOC129994326 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333837	NM_001163315.3(FBXL17):c.217C>T (p.Pro73Ser)	FBXL17, LOC129994326 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612628	NM_001163315.3(FBXL17):c.176G>A (p.Cys59Tyr)	FBXL17, LOC129994326 (C59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240662	NM_001163315.3(FBXL17):c.166C>T (p.Arg56Cys)	FBXL17, LOC129994326 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362032	NM_001163315.3(FBXL17):c.148A>G (p.Ser50Gly)	FBXL17, LOC129994326 (S50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735710	NM_001163315.3(FBXL17):c.141G>A (p.Ala47=)	FBXL17, LOC129994326	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333801	NM_001163315.3(FBXL17):c.124C>G (p.Pro42Ala)	FBXL17, LOC129994326 (P42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495657	NM_001163315.3(FBXL17):c.91C>T (p.Leu31Phe)	FBXL17, LOC129994326 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472973	NM_001163315.3(FBXL17):c.73C>T (p.Arg25Cys)	FBXL17, LOC129994326 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062852	GRCh37/hg19 5q21.3-22.1(chr5:106275906-109636670)x1	EFNA5, FBXL17 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980173	GRCh37/hg19 5q21.3(chr5:107306322-107623501)x1	FBXL17	Copy number loss	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814720	GRCh37/hg19 5q21.3(chr5:107168048-107526811)x3	FBXL17	Copy number gain	not provided	GLikely benign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685786	GRCh37/hg19 5q21.3(chr5:105738092-108214791)x3	EFNA5, FBXL17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563099	GRCh37/hg19 5q21.3(chr5:106265124-107656892)x1	FBXL17, EFNA5	Copy number loss	not provided	GLikely benign
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442125	GRCh37/hg19 5q21.3(chr5:107251497-107540342)x1	FBXL17	Copy number loss	See cases	GLikely benign
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441691	GRCh37/hg19 5q21.3(chr5:105708752-108378522)x1	FER, FBXL17 +1 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 88