FBXO25[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155445	GRCh38/hg38 8p23.3(chr8:208048-1576545)x3	DLGAP2, DLGAP2-AS1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 155178	GRCh38/hg38 8p23.3(chr8:226452-1670285)x1	LOC105377777, DLGAP2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149175	GRCh38/hg38 8p23.3(chr8:226452-1073572)x1	DLGAP2, ERICH1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 144291	GRCh38/hg38 8p23.3(chr8:241530-451413)x3	FAM87A, FBXO25 +6 more	Copy number gain	See cases	GUncertain significance
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57311	GRCh38/hg38 8p23.3(chr8:241530-1371695)x1	DLGAP2, ERICH1 +26 more	Copy number loss	See cases	GPathogenic
Select item 57012	GRCh38/hg38 8p23.3(chr8:241530-764384)x1	DLGAP2, ERICH1 +13 more	Copy number loss	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 144676	GRCh38/hg38 8p23.3(chr8:241605-458761)x3	FAM87A, FBXO25 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 152008	GRCh38/hg38 8p23.3(chr8:298209-456082)x3	FAM87A, FBXO25 +2 more	Copy number gain	See cases	GBenign
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 144393	GRCh38/hg38 8p23.3(chr8:410369-478189)x3	FBXO25	Copy number gain	See cases	GUncertain significance
Select item 3278114	NM_183420.2(FBXO25):c.41G>C (p.Ser14Thr)	FBXO25 (S14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093634	NM_183420.2(FBXO25):c.125G>C (p.Ser42Thr)	FBXO25 (S42T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093635	NM_183420.2(FBXO25):c.202A>G (p.Lys68Glu)	FBXO25 (K68E)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3093637	NM_183420.2(FBXO25):c.286G>A (p.Glu96Lys)	FBXO25 (E96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358720	NM_183420.2(FBXO25):c.326G>A (p.Arg109Gln)	FBXO25 (R42Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259877	NM_183420.2(FBXO25):c.365T>A (p.Phe122Tyr)	FBXO25 (F122Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 149482	GRCh38/hg38 8p23.3(chr8:451226-492359)x3	FBXO25, TDRP	Copy number gain	See cases	GLikely benign
Select item 145382	GRCh38/hg38 8p23.3(chr8:451226-611272)x3	FBXO25, TDRP	Copy number gain	See cases	GBenign
Select item 3093638	NM_183420.2(FBXO25):c.499C>T (p.Arg167Cys)	FBXO25 (R167C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343526	NM_183420.2(FBXO25):c.569C>G (p.Ser190Cys)	FBXO25 (S123C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278115	NM_183420.2(FBXO25):c.577G>A (p.Val193Met)	FBXO25 (V126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524254	NM_183420.2(FBXO25):c.610G>C (p.Glu204Gln)	FBXO25 (E204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454480	NM_183420.2(FBXO25):c.643G>C (p.Asp215His)	FBXO25 (D215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476142	NM_183420.2(FBXO25):c.690C>A (p.Asp230Glu)	FBXO25 (D230E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290714	NM_183420.2(FBXO25):c.724C>T (p.Arg242Trp)	FBXO25 (R242W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242289	NM_183420.2(FBXO25):c.736G>A (p.Gly246Arg)	FBXO25 (G246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540006	NM_183420.2(FBXO25):c.757G>T (p.Gly253Cys)	FBXO25 (G253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093639	NM_183420.2(FBXO25):c.813G>T (p.Lys271Asn)	FBXO25 (K271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093640	NM_183420.2(FBXO25):c.869A>G (p.Glu290Gly)	FBXO25 (E223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093641	NM_183420.2(FBXO25):c.881T>C (p.Ile294Thr)	FBXO25 (I227T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549410	NM_183420.2(FBXO25):c.999C>A (p.His333Gln)	FBXO25 (H266Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093632	NM_183420.2(FBXO25):c.1001C>T (p.Pro334Leu)	FBXO25 (P267L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093633	NM_183420.2(FBXO25):c.1017C>G (p.Asp339Glu)	FBXO25 (D339E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308044	NM_183420.2(FBXO25):c.1058T>C (p.Ile353Thr)	FBXO25 (I353T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685285	GRCh37/hg19 8p23.3(chr8:406041-695480)x1	ERICH1, FBXO25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684516	GRCh37/hg19 8p23.3(chr8:334171-1108571)x3	ERICH1, FBXO25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic

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