FBXW10B[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Hereditary liability to pressure palsies +2 more	GPathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	COX10, CDRT15 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	LOC130060304, LOC130060305 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	TEKT3, TVP23C +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 154772	GRCh38/hg38 17p12(chr17:14208455-15579558)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 149424	GRCh38/hg38 17p12(chr17:14208455-15579558)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 147669	GRCh38/hg38 17p12(chr17:14208455-15588434)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 770640	NM_006382.4(FBXW10B):c.1930A>C (p.Asn644His)	FBXW10B (N644H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3093818	NM_006382.4(FBXW10B):c.1804G>A (p.Val602Met)	FBXW10B (V602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769909	NM_006382.4(FBXW10B):c.1705-15_1705-8del	FBXW10B	Deletion (intron variant)	not provided	GBenign
Select item 3093823	NM_006382.4(FBXW10B):c.937C>G (p.Gln313Glu)	FBXW10B (Q313E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093821	NM_006382.4(FBXW10B):c.569C>T (p.Ala190Val)	FBXW10B (A190V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093820	NM_006382.4(FBXW10B):c.436C>T (p.Pro146Ser)	FBXW10B (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093819	NM_006382.4(FBXW10B):c.372G>C (p.Trp124Cys)	FBXW10B (W124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093822	NM_006382.4(FBXW10B):c.79C>T (p.Arg27Trp)	FBXW10B (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148860	GRCh37/hg19 17p12(chr17:14073536-15503234)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 1330204	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 815906	GRCh37/hg19 17p12(chr17:14195642-15545880)x3	CDRT4, PMP22 +6 more	Copy number gain	not provided	GPathogenic
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625727	GRCh37/hg19 17p12(chr17:14104012-15551814)	CDRT15, CDRT4 +8 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 598751	Single allele	CDRT15, CDRT4 +7 more	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 564403	GRCh37/hg19 17p12(chr17:14085652-15512120)x3	CDRT15, CDRT4 +7 more	Copy number gain	not provided	GPathogenic
Select item 446318	GRCh37/hg19 17p12(chr17:14098786-15495266)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 443264	GRCh37/hg19 17p12(chr17:14098660-15500645)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 442475	GRCh37/hg19 17p12(chr17:14098660-15501133)x3	CDRT15, CDRT4 +7 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 394157	GRCh37/hg19 17p12(chr17:15339667-15592758)x3	CDRT4, FBXW10B +3 more	Copy number gain	See cases	GLikely benign
Select item 393922	GRCh37/hg19 17p12(chr17:14100118-15492400)x3	CDRT15, CDRT4 +7 more	Copy number gain	See cases	GPathogenic
Select item 253585	GRCh37/hg19 17p12(chr17:14100118-15492444)x3	TEKT3, COX10 +7 more	Copy number gain	See cases	GPathogenic
Select item 253384	GRCh37/hg19 17p12(chr17:14139857-15707850)x3	HS3ST3B1, TVP23C +9 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

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Items: 55