FBXO40[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 2272484	NM_016298.4(FBXO40):c.36C>G (p.His12Gln)	FBXO40 (H12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288731	NM_016298.4(FBXO40):c.64C>A (p.His22Asn)	FBXO40 (H22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214809	NM_016298.4(FBXO40):c.250C>A (p.His84Asn)	FBXO40 (H84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093721	NM_016298.4(FBXO40):c.268G>A (p.Ala90Thr)	FBXO40 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093722	NM_016298.4(FBXO40):c.319T>C (p.Ser107Pro)	FBXO40 (S107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277364	NM_016298.4(FBXO40):c.344T>G (p.Ile115Ser)	FBXO40 (I115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373487	NM_016298.4(FBXO40):c.406G>T (p.Val136Phe)	FBXO40 (V136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370336	NM_016298.4(FBXO40):c.514G>A (p.Ala172Thr)	FBXO40 (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093723	NM_016298.4(FBXO40):c.628A>T (p.Met210Leu)	FBXO40 (M210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364831	NM_016298.4(FBXO40):c.671A>G (p.Lys224Arg)	FBXO40 (K224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654066	NM_016298.4(FBXO40):c.702A>G (p.Ser234=)	FBXO40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093724	NM_016298.4(FBXO40):c.739G>A (p.Glu247Lys)	FBXO40 (E247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489972	NM_016298.4(FBXO40):c.829G>A (p.Asp277Asn)	FBXO40 (D277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533887	NM_016298.4(FBXO40):c.832G>A (p.Val278Ile)	FBXO40 (V278I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093725	NM_016298.4(FBXO40):c.836G>A (p.Arg279His)	FBXO40 (R279H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093726	NM_016298.4(FBXO40):c.917A>C (p.Asp306Ala)	FBXO40 (D306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214401	NM_016298.4(FBXO40):c.1052A>G (p.Lys351Arg)	FBXO40 (K351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365024	NM_016298.4(FBXO40):c.1079G>A (p.Arg360Gln)	FBXO40 (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093720	NM_016298.4(FBXO40):c.1125C>A (p.His375Gln)	FBXO40 (H375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274561	NM_016298.4(FBXO40):c.1128G>C (p.Lys376Asn)	FBXO40 (K376N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535039	NM_016298.4(FBXO40):c.1226A>G (p.Lys409Arg)	FBXO40 (K409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312605	NM_016298.4(FBXO40):c.1255A>G (p.Ile419Val)	FBXO40 (I419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368532	NM_016298.4(FBXO40):c.1283C>T (p.Thr428Ile)	FBXO40 (T428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343449	NM_016298.4(FBXO40):c.1385A>C (p.Glu462Ala)	FBXO40 (E462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529870	NM_016298.4(FBXO40):c.1484T>C (p.Val495Ala)	FBXO40 (V495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515016	NM_016298.4(FBXO40):c.1525C>T (p.His509Tyr)	FBXO40 (H509Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569156	NM_016298.4(FBXO40):c.1648G>C (p.Ala550Pro)	FBXO40 (A550P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231585	NM_016298.4(FBXO40):c.1750A>G (p.Ile584Val)	FBXO40 (I584V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250752	NM_016298.4(FBXO40):c.1801G>A (p.Val601Met)	FBXO40 (V601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457746	NM_016298.4(FBXO40):c.1841G>A (p.Arg614Lys)	FBXO40 (R614K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345572	NM_016298.4(FBXO40):c.1928G>A (p.Ser643Asn)	FBXO40 (S643N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782742	NM_016298.4(FBXO40):c.1935C>T (p.Leu645=)	FBXO40	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2384767	NM_016298.4(FBXO40):c.1952G>T (p.Ser651Ile)	FBXO40 (S651I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596452	NM_016298.4(FBXO40):c.2018A>G (p.Glu673Gly)	FBXO40 (E673G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403374	NM_016298.4(FBXO40):c.2022C>A (p.His674Gln)	FBXO40 (H674Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367820	NM_016298.4(FBXO40):c.2051T>C (p.Met684Thr)	FBXO40 (M684T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613206	NM_016298.4(FBXO40):c.2111G>A (p.Arg704Gln)	FBXO40 (R704Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602157	NM_016298.4(FBXO40):c.2117G>T (p.Arg706Ile)	FBXO40 (R706I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

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Items: 54