FBXL5[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 2307569	NM_012161.4(FBXL5):c.1784A>T (p.Glu595Val)	FBXL5 (E595V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243852	NM_012161.4(FBXL5):c.1694A>C (p.Glu565Ala)	FBXL5 (E564A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 219315	NM_012161.4(FBXL5):c.1654del (p.Cys552fs)	FBXL5 (C551fs +2 more)	Deletion (frameshift variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2510611	NM_012161.4(FBXL5):c.1598G>T (p.Cys533Phe)	FBXL5 (C533F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361936	NM_012161.4(FBXL5):c.1570G>A (p.Asp524Asn)	FBXL5 (D398N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527340	NM_012161.4(FBXL5):c.1402C>G (p.Pro468Ala)	FBXL5 (P468A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093543	NM_012161.4(FBXL5):c.1377A>G (p.Ile459Met)	FBXL5 (I333M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497701	NM_012161.4(FBXL5):c.1345G>A (p.Asp449Asn)	FBXL5 (D323N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2280918	NM_012161.4(FBXL5):c.1291T>A (p.Trp431Arg)	FBXL5 (W430R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260234	NM_012161.4(FBXL5):c.970G>A (p.Val324Ile)	FBXL5 (V198I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327017	NM_012161.4(FBXL5):c.944G>A (p.Arg315His)	FBXL5 (R189H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590193	NM_012161.4(FBXL5):c.943C>T (p.Arg315Cys)	FBXL5 (R189C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246695	NM_012161.4(FBXL5):c.905A>G (p.Glu302Gly)	FBXL5 (E176G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236886	NM_012161.4(FBXL5):c.823G>A (p.Val275Met)	FBXL5 (V149M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471311	NM_012161.4(FBXL5):c.803C>T (p.Thr268Ile)	FBXL5 (T142I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093546	NM_012161.4(FBXL5):c.707C>A (p.Ser236Tyr)	FBXL5 (S236Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253172	NM_012161.4(FBXL5):c.680G>A (p.Arg227Gln)	FBXL5 (R101Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093545	NM_012161.4(FBXL5):c.658C>T (p.Leu220Phe)	FBXL5 (L220F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411981	NM_012161.4(FBXL5):c.646A>G (p.Ile216Val)	FBXL5 (I215V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093544	NM_012161.4(FBXL5):c.634G>A (p.Val212Ile)	FBXL5 (V211I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474866	NM_012161.4(FBXL5):c.226A>T (p.Ile76Phe)	FAM200B, FBXL5 (I59F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479469	NM_012161.4(FBXL5):c.8C>T (p.Pro3Leu)	FAM200B, FBXL5 (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2423660	NC_000004.11:g.(?_15477557)_(16228080_?)dup	FAM200B, BST1 +7 more	Duplication	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340782	GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3	BOD1L1, BST1 +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 980667	GRCh37/hg19 4p15.32(chr4:15265208-15662366)x3	FBXL5, C1QTNF7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 809719	GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1	CD38, FAM200B +25 more	Copy number loss	not provided	GUncertain significance
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 395095	GRCh37/hg19 4p15.32(chr4:15613881-15659599)x3	FBXL5	Copy number gain	See cases	GBenign/Likely benign
Select item 394872	GRCh37/hg19 4p15.32(chr4:15613881-15683370)x3	FAM200B, FBXL5	Copy number gain	See cases	GBenign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic

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Items: 78