FBXL13[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2524332	NM_001394494.2(FBXL13):c.2474C>T (p.Ala825Val)	FAM185A, FBXL13 (A825V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493137	NM_001394494.2(FBXL13):c.2401A>G (p.Asn801Asp)	FAM185A, FBXL13 (N683D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278033	NM_001394494.2(FBXL13):c.2360T>A (p.Phe787Tyr)	FAM185A, FBXL13 (F652Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249146	NM_001394494.2(FBXL13):c.2320C>A (p.Gln774Lys)	FAM185A, FBXL13 (Q684K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455849	NM_001394494.2(FBXL13):c.2252G>A (p.Arg751Gln)	FAM185A, FBXL13 (R633Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240921	NM_001394494.2(FBXL13):c.2153C>T (p.Ser718Leu)	FAM185A, FBXL13 (S600L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208197	NM_001394494.2(FBXL13):c.2148G>A (p.Met716Ile)	FAM185A, FBXL13 (M581I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492878	NM_001394494.2(FBXL13):c.1951G>C (p.Val651Leu)	FBXL13 (V651L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2319765	NM_001394494.2(FBXL13):c.1933A>G (p.Lys645Glu)	FBXL13 (K555E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602800	NM_001394494.2(FBXL13):c.1927C>T (p.His643Tyr)	FBXL13 (H643Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093484	NM_001394494.2(FBXL13):c.1915G>A (p.Val639Met)	FBXL13 (V549M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484475	NM_001394494.2(FBXL13):c.1868T>G (p.Val623Gly)	FBXL13 (V533G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093483	NM_001394494.2(FBXL13):c.1849G>A (p.Val617Ile)	FBXL13 (V527I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093482	NM_001394494.2(FBXL13):c.1808G>A (p.Arg603Gln)	FBXL13 (R603Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516105	NM_001394494.2(FBXL13):c.1753G>A (p.Ala585Thr)	FBXL13 (A495T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320996	NM_001394494.2(FBXL13):c.1688T>C (p.Leu563Pro)	FBXL13 (L473P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382229	NM_001394494.2(FBXL13):c.1687C>A (p.Leu563Ile)	FBXL13 (L563I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522881	NM_001394494.2(FBXL13):c.1499A>G (p.Asn500Ser)	FBXL13 (N500S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487504	NM_001394494.2(FBXL13):c.1498A>G (p.Asn500Asp)	FBXL13 (N500D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315519	NM_001394494.2(FBXL13):c.1496G>A (p.Gly499Glu)	FBXL13 (G409E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396491	NM_001394494.2(FBXL13):c.1361C>T (p.Thr454Met)	FBXL13 (T364M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093481	NM_001394494.2(FBXL13):c.1319C>A (p.Thr440Asn)	FBXL13 (T350N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278035	NM_001394494.2(FBXL13):c.1292G>A (p.Gly431Asp)	FBXL13 (G431D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243258	NM_001394494.2(FBXL13):c.1150C>A (p.His384Asn)	FBXL13, LRRC17 (H294N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232588	NM_001394494.2(FBXL13):c.1123A>C (p.Asn375His)	FBXL13, LRRC17 (N285H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607830	NM_001394494.2(FBXL13):c.1087G>A (p.Val363Ile)	FBXL13, LRRC17 (V273I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591958	NM_001394494.2(FBXL13):c.1082C>T (p.Pro361Leu)	FBXL13, LRRC17 (P271L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337507	NM_001031692.3(LRRC17):c.70G>T (p.Gly24Cys)	FBXL13, LRRC17 (G24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242073	NM_001031692.3(LRRC17):c.107G>A (p.Gly36Asp)	FBXL13, LRRC17 (G36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120424	NM_001031692.3(LRRC17):c.112G>A (p.Gly38Ser)	FBXL13, LRRC17 (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291508	NM_001031692.3(LRRC17):c.121G>C (p.Gly41Arg)	FBXL13, LRRC17 (G41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120425	NM_001031692.3(LRRC17):c.181C>T (p.His61Tyr)	FBXL13, LRRC17 (H61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333177	NM_001031692.3(LRRC17):c.341A>G (p.Gln114Arg)	FBXL13, LRRC17 (Q114R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3120427	NM_001031692.3(LRRC17):c.476G>A (p.Arg159His)	FBXL13, LRRC17 (R159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120428	NM_001031692.3(LRRC17):c.498C>G (p.His166Gln)	FBXL13, LRRC17 (H166Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120429	NM_001031692.3(LRRC17):c.610C>G (p.Arg204Gly)	FBXL13, LRRC17 (R204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463655	NM_001031692.3(LRRC17):c.610C>T (p.Arg204Trp)	FBXL13, LRRC17 (R204W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385122	NM_001031692.3(LRRC17):c.611G>A (p.Arg204Gln)	FBXL13, LRRC17 (R204Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362733	NM_001031692.3(LRRC17):c.683G>A (p.Gly228Glu)	FBXL13, LRRC17 (G228E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485858	NM_001031692.3(LRRC17):c.689C>G (p.Pro230Arg)	FBXL13, LRRC17 (P230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233541	NM_001031692.3(LRRC17):c.689C>T (p.Pro230Leu)	FBXL13, LRRC17 (P230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221467	NM_001031692.3(LRRC17):c.796A>T (p.Ile266Phe)	FBXL13, LRRC17 (I266F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605804	NM_001031692.3(LRRC17):c.842A>C (p.Asn281Thr)	FBXL13, LRRC17 (N281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291507	NM_001031692.3(LRRC17):c.931G>A (p.Ala311Thr)	FBXL13, LRRC17 (A311T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239179	NM_001031692.3(LRRC17):c.1130A>C (p.Glu377Ala)	FBXL13, LRRC17 (E377A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316247	NM_001031692.3(LRRC17):c.1169G>A (p.Gly390Glu)	FBXL13, LRRC17 (G390E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291509	NM_001031692.3(LRRC17):c.1220C>T (p.Ala407Val)	FBXL13, LRRC17 (A407V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254867	NM_001031692.3(LRRC17):c.1316T>A (p.Ile439Lys)	FBXL13, LRRC17 (I439K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223419	NM_001394494.2(FBXL13):c.973C>A (p.Pro325Thr)	FBXL13 (P235T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362942	NM_001394494.2(FBXL13):c.962G>C (p.Cys321Ser)	FBXL13 (C231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298826	NM_001394494.2(FBXL13):c.943C>T (p.Arg315Cys)	FBXL13 (R225C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278031	NM_001394494.2(FBXL13):c.913A>G (p.Thr305Ala)	FBXL13 (T215A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300247	NM_001394494.2(FBXL13):c.841C>G (p.Leu281Val)	FBXL13 (L191V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278034	NM_001394494.2(FBXL13):c.826A>G (p.Met276Val)	FBXL13 (M186V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356172	NM_001394494.2(FBXL13):c.706C>T (p.Leu236Phe)	FBXL13 (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2278350	NM_001394494.2(FBXL13):c.674A>G (p.Asn225Ser)	FBXL13 (N225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275541	NM_001394494.2(FBXL13):c.638G>A (p.Arg213Lys)	FBXL13 (R123K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216326	NM_001394494.2(FBXL13):c.500G>A (p.Arg167Gln)	FBXL13 (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093485	NM_001394494.2(FBXL13):c.467A>C (p.Asp156Ala)	FBXL13 (D156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206894	NM_001394494.2(FBXL13):c.382G>C (p.Ala128Pro)	FBXL13 (A128P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389665	NM_001394494.2(FBXL13):c.376G>A (p.Val126Ile)	FBXL13 (V126I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349028	NM_001394494.2(FBXL13):c.359G>A (p.Arg120His)	FBXL13 (R120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588413	NM_001394494.2(FBXL13):c.358C>T (p.Arg120Cys)	FBXL13 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399353	NM_001394494.2(FBXL13):c.278C>T (p.Pro93Leu)	FBXL13 (P93L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 563310	GRCh37/hg19 7q22.1(chr7:102333441-102489562)x1	FAM185A, FBXL13	Copy number loss	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 88