ClinVar for Gene (Select 26272) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093719	NM_012176.3(FBXO4):c.827T>G (p.Ile276Ser)	FBXO4 (I276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093718	NM_012176.3(FBXO4):c.796G>A (p.Asp266Asn)	FBXO4 (D266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093717	NM_012176.3(FBXO4):c.733G>T (p.Asp245Tyr)	FBXO4 (D245Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093716	NM_012176.3(FBXO4):c.400G>C (p.Gly134Arg)	FBXO4 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093714	NM_012176.3(FBXO4):c.1091C>T (p.Ala364Val)	FBXO4 (A364V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3093713	NM_012176.3(FBXO4):c.1006G>A (p.Val336Ile)	FBXO4 (V336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2655450	NM_012176.3(FBXO4):c.522G>A (p.Gln174=)	FBXO4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559236	NM_012176.3(FBXO4):c.1154G>A (p.Arg385His)	FBXO4 (R385H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2517388	NM_012176.3(FBXO4):c.182G>A (p.Arg61Gln)	FBXO4 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514648	NM_012176.3(FBXO4):c.256A>T (p.Asn86Tyr)	FBXO4 (N86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485298	NM_012176.3(FBXO4):c.821G>T (p.Ser274Ile)	FBXO4 (S274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472438	NM_012176.3(FBXO4):c.622G>A (p.Gly208Ser)	FBXO4 (G208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394512	NM_012176.3(FBXO4):c.71A>T (p.Glu24Val)	FBXO4 (E24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393681	NM_012176.3(FBXO4):c.56A>G (p.Asp19Gly)	FBXO4 (D19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379815	NM_012176.3(FBXO4):c.50T>G (p.Phe17Cys)	FBXO4 (F17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343587	NM_012176.3(FBXO4):c.134G>A (p.Arg45His)	FBXO4 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335645	NM_012176.3(FBXO4):c.254C>G (p.Thr85Arg)	FBXO4 (T85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334888	NM_012176.3(FBXO4):c.782G>A (p.Arg261Gln)	FBXO4 (R261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299684	NM_012176.3(FBXO4):c.20G>C (p.Arg7Pro)	FBXO4 (R7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278152	NM_012176.3(FBXO4):c.358G>T (p.Asp120Tyr)	FBXO4 (D120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269011	NM_012176.3(FBXO4):c.827T>A (p.Ile276Asn)	FBXO4 (I276N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218453	NM_012176.3(FBXO4):c.533G>A (p.Arg178Gln)	FBXO4 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213697	NM_012176.3(FBXO4):c.33C>G (p.Asn11Lys)	FBXO4 (N11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207632	NM_012176.3(FBXO4):c.151G>A (p.Glu51Lys)	FBXO4 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1710915	GRCh37/hg19 5p13.1-12(chr5:41879852-42913979)x1	CCDC152, FBXO4 +3 more	Copy number loss	See cases	GPathogenic
Select item 1710914	GRCh37/hg19 5p13.1-12(chr5:41879852-42906725)x1	CCDC152, FBXO4 +3 more	Copy number loss	See cases	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563060	GRCh37/hg19 5p13.1-12(chr5:41879642-42911463)x1	SELENOP, RIMOC1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
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 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 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 153578	GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1	CCDC152, FBXO4 +18 more	Copy number loss	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 144612	GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1	CCDC152, FBXO4 +16 more	Copy number loss	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50