ClinVar for Gene (Select 26259) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278246	NM_153348.3(FBXW8):c.1474G>C (p.Gly492Arg)	FBXW8, LOC126861650 (G492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278245	NM_153348.3(FBXW8):c.1613T>C (p.Met538Thr)	FBXW8 (M538T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278244	NM_153348.3(FBXW8):c.1477G>A (p.Glu493Lys)	FBXW8, LOC126861650 (E493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093891	NM_153348.3(FBXW8):c.774G>A (p.Met258Ile)	FBXW8 (M192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093890	NM_153348.3(FBXW8):c.76C>G (p.Arg26Gly)	FBXW8 (R26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093889	NM_153348.3(FBXW8):c.593G>A (p.Arg198His)	FBXW8 (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093888	NM_153348.3(FBXW8):c.57G>T (p.Gln19His)	FBXW8 (Q19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093887	NM_153348.3(FBXW8):c.521A>G (p.Tyr174Cys)	FBXW8 (Y108C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093886	NM_153348.3(FBXW8):c.359C>T (p.Pro120Leu)	FBXW8 (P54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093885	NM_153348.3(FBXW8):c.310C>T (p.Arg104Cys)	FBXW8, LOC130008877 (R104C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093884	NM_153348.3(FBXW8):c.29G>A (p.Arg10His)	FBXW8 (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093883	NM_153348.3(FBXW8):c.1723T>G (p.Cys575Gly)	FBXW8 (C509G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093882	NM_153348.3(FBXW8):c.1469G>A (p.Ser490Asn)	FBXW8, LOC126861650 (S424N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093881	NM_153348.3(FBXW8):c.1318C>A (p.Leu440Ile)	FBXW8 (L440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093879	NM_153348.3(FBXW8):c.1192G>A (p.Val398Ile)	FBXW8 (V332I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093878	NM_153348.3(FBXW8):c.1154G>A (p.Gly385Asp)	FBXW8 (G385D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 2612793	NM_153348.3(FBXW8):c.1298G>A (p.Arg433His)	FBXW8 (R433H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610802	NM_153348.3(FBXW8):c.86C>T (p.Pro29Leu)	FBXW8 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609746	NM_153348.3(FBXW8):c.1002G>C (p.Gln334His)	FBXW8, LOC100506551 (Q268H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2608017	NM_153348.3(FBXW8):c.1441G>A (p.Val481Met)	FBXW8, LOC126861650 (V481M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604314	NM_153348.3(FBXW8):c.1051G>C (p.Val351Leu)	FBXW8 (V351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509673	NM_153348.3(FBXW8):c.299A>G (p.Asp100Gly)	FBXW8, LOC130008877 (D100G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467559	NM_153348.3(FBXW8):c.928G>C (p.Asp310His)	FBXW8, LOC100506551 (D244H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461545	NM_153348.3(FBXW8):c.1268G>A (p.Arg423His)	FBXW8 (R357H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456897	NM_153348.3(FBXW8):c.1508G>A (p.Arg503Gln)	FBXW8, LOC126861650 (R503Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407117	NM_153348.3(FBXW8):c.1658G>A (p.Arg553Gln)	FBXW8 (R487Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396828	NM_153348.3(FBXW8):c.967G>A (p.Val323Met)	FBXW8, LOC100506551 (V323M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2361998	NM_153348.3(FBXW8):c.1465G>A (p.Val489Ile)	FBXW8, LOC126861650 (V423I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343588	NM_153348.3(FBXW8):c.442G>A (p.Val148Met)	FBXW8 (V148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340267	NM_153348.3(FBXW8):c.1190A>G (p.Gln397Arg)	FBXW8 (Q331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323691	NM_153348.3(FBXW8):c.854A>G (p.Asp285Gly)	FBXW8, LOC100506551 (D285G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317438	NM_153348.3(FBXW8):c.461T>A (p.Val154Glu)	FBXW8 (V88E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306689	NM_153348.3(FBXW8):c.688G>A (p.Gly230Arg)	FBXW8 (G230R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268239	NM_153348.3(FBXW8):c.313G>C (p.Asp105His)	FBXW8, LOC130008877 (D105H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245447	NM_153348.3(FBXW8):c.25T>G (p.Phe9Val)	FBXW8 (F9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232864	NM_153348.3(FBXW8):c.239C>G (p.Ala80Gly)	FBXW8, LOC130008877 (A80G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227809	NM_153348.3(FBXW8):c.263C>G (p.Ala88Gly)	FBXW8, LOC130008877 (A88G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222302	NM_153348.3(FBXW8):c.670A>G (p.Ile224Val)	FBXW8 (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221462	NM_153348.3(FBXW8):c.1790A>G (p.His597Arg)	FBXW8 (H531R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217823	NM_153348.3(FBXW8):c.983A>G (p.Asn328Ser)	FBXW8, LOC100506551 (N262S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2214410	NM_153348.3(FBXW8):c.1087G>A (p.Ala363Thr)	FBXW8 (A363T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210742	NM_153348.3(FBXW8):c.931G>A (p.Asp311Asn)	FBXW8, LOC100506551 (D245N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980457	GRCh37/hg19 12q24.22(chr12:117327155-117693543)x3	FBXO21, NOS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815560	GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4	FBXO21, SPRING1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 790128	NM_153348.3(FBXW8):c.1030C>T (p.Leu344=)	FBXW8, LOC100506551	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790127	NM_153348.3(FBXW8):c.631A>G (p.Thr211Ala)	FBXW8 (T211A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773686	NM_153348.3(FBXW8):c.589-4G>A	FBXW8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768588	NM_153348.3(FBXW8):c.1567A>G (p.Ser523Gly)	FBXW8 (S523G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746547	NM_153348.3(FBXW8):c.333T>C (p.Asp111=)	FBXW8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721845	NM_153348.3(FBXW8):c.222C>T (p.Ala74=)	FBXW8, LOC130008877	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708125	NM_153348.3(FBXW8):c.1607C>T (p.Thr536Met)	FBXW8 (T470M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563968	GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1	NOS1, TESC +6 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 67