ClinVar for Gene (Select 55294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339432	NM_001349798.2(FBXW7):c.985+18A>G	FBXW7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339074	NM_001349798.2(FBXW7):c.370G>T (p.Asp124Tyr)	FBXW7 (D124Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337271	NM_001349798.2(FBXW7):c.1944_1945del (p.Trp649fs)	FBXW7 (W531fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3336158	NM_001349798.2(FBXW7):c.311A>G (p.His104Arg)	FBXW7 (H104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278243	NM_001349798.2(FBXW7):c.589A>G (p.Thr197Ala)	FBXW7 (T117A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257864	NM_001349798.2(FBXW7):c.1529A>C (p.Asp510Ala)	FBXW7 (D392A +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257863	NM_001349798.2(FBXW7):c.1691G>A (p.Arg564His)	FBXW7 (R564H +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257862	NM_001349798.2(FBXW7):c.1745C>T (p.Ser582Leu)	FBXW7 (S502L +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3255132	NM_001349798.2(FBXW7):c.1919del (p.Ser640fs)	FBXW7 (S522fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 3238841	NM_001349798.2(FBXW7):c.248G>T (p.Arg83Ile)	FBXW7 (R83I)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GUncertain significance
Select item 3235824	NM_001349798.2(FBXW7):c.915_918dup (p.Thr307fs)	FBXW7 (T189fs +2 more)	Duplication (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 3093876	NM_001349798.2(FBXW7):c.418A>T (p.Thr140Ser)	FBXW7 (T140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3093875	NM_001349798.2(FBXW7):c.352A>G (p.Met118Val)	FBXW7 (M118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093874	NM_001349798.2(FBXW7):c.1433C>T (p.Ser478Phe)	FBXW7 (S360F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3093873	NM_001349798.2(FBXW7):c.1295A>T (p.Asn432Ile)	FBXW7 (N352I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068110	NM_001349798.2(FBXW7):c.471_472insCTCC (p.Ser158fs)	FBXW7 (S158fs)	Insertion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3061611	NM_001349798.2(FBXW7):c.501+28963T>C	FBXW7	Single nucleotide variant (5 prime UTR variant +1 more)	FBXW7-related disorder	GLikely benign
Select item 3061317	NM_001349798.2(FBXW7):c.1044_1045del (p.His348fs)	FBXW7 (H230fs +2 more)	Microsatellite (frameshift variant)	FBXW7-related disorder	GLikely pathogenic
Select item 3058091	NM_001349798.2(FBXW7):c.1128G>T (p.Leu376=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
Select item 3053778	NM_001349798.2(FBXW7):c.147G>A (p.Glu49=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
Select item 3048590	NM_001349798.2(FBXW7):c.585-6_585-5dup	FBXW7	Duplication (intron variant)	FBXW7-related disorder	GLikely benign
Select item 3047405	NM_001349798.2(FBXW7):c.502-2431G>A	FBXW7 (R59Q)	Single nucleotide variant (missense variant +1 more)	FBXW7-related disorder	GLikely benign
Select item 3046999	NM_001349798.2(FBXW7):c.501+29106C>A	FBXW7	Single nucleotide variant (synonymous variant +1 more)	FBXW7-related disorder	GLikely benign
Select item 3046988	NM_001349798.2(FBXW7):c.585-7_585-5del	FBXW7	Deletion (intron variant)	FBXW7-related disorder	GLikely benign
Select item 3046931	NM_001349798.2(FBXW7):c.1419-10C>G	FBXW7	Single nucleotide variant (intron variant)	FBXW7-related disorder	GLikely benign
Select item 3045311	NM_001349798.2(FBXW7):c.1644+6A>C	FBXW7	Single nucleotide variant (intron variant)	FBXW7-related disorder	GLikely benign
Select item 3040868	NM_001349798.2(FBXW7):c.2020C>A (p.Arg674=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2896320	NM_001349798.2(FBXW7):c.536G>A (p.Arg179His)	FBXW7 (R179H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892307	NM_001349798.2(FBXW7):c.45T>C (p.Thr15=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879477	NM_001349798.2(FBXW7):c.378T>A (p.Asp126Glu)	FBXW7 (D126E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848962	NM_001349798.2(FBXW7):c.1855+12_1855+15del	FBXW7	Deletion (intron variant)	not provided	GLikely benign
Select item 2713418	NM_001349798.2(FBXW7):c.1540G>A (p.Val514Ile)	FBXW7 (V396I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712005	NM_001349798.2(FBXW7):c.726+19G>C	FBXW7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710224	NM_001349798.2(FBXW7):c.1236+16del	FBXW7	Deletion (intron variant)	not provided	GLikely benign
Select item 2708415	NM_001349798.2(FBXW7):c.967G>A (p.Glu323Lys)	FBXW7 (E205K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704950	NM_001349798.2(FBXW7):c.1866G>A (p.Lys622=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703871	NM_001349798.2(FBXW7):c.1120A>G (p.Lys374Glu)	FBXW7 (K294E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702155	NM_001349798.2(FBXW7):c.726+2_726+5dup	FBXW7	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2681279	NM_001349798.2(FBXW7):c.803T>A (p.Met268Lys)	FBXW7, FBXW7-AS1 (M150K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GPathogenic
Select item 2675680	NM_001349798.2(FBXW7):c.292C>G (p.Gln98Glu)	FBXW7 (Q98E)	Single nucleotide variant (missense variant)	Predisposition to Wilm's tumor, FBXW7-related	GUncertain significance
Select item 2655131	NM_001349798.2(FBXW7):c.501+28946G>A	FBXW7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2655130	NM_001349798.2(FBXW7):c.1200C>T (p.Asp400=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637508	NM_001349798.2(FBXW7):c.31A>G (p.Lys11Glu)	FBXW7 (K11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633982	NM_001349798.2(FBXW7):c.37C>T (p.Arg13Ter)	FBXW7 (R13*)	Single nucleotide variant (nonsense)	FBXW7-related disorder	GUncertain significance
Select item 2632735	NM_001349798.2(FBXW7):c.1793A>T (p.Asn598Ile)	FBXW7 (N480I +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GLikely pathogenic
Select item 2631482	NM_001349798.2(FBXW7):c.1154C>G (p.Thr385Arg)	FBXW7 (T267R +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GUncertain significance
Select item 2629379	NM_001349798.2(FBXW7):c.1076A>G (p.His359Arg)	FBXW7 (H241R +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GUncertain significance
Select item 2626983	NM_001349798.2(FBXW7):c.1315A>G (p.Thr439Ala)	FBXW7 (T321A +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 2617941	NM_001349798.2(FBXW7):c.1904A>G (p.Asn635Ser)	FBXW7 (N517S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615627	NM_001349798.2(FBXW7):c.80A>G (p.Gln27Arg)	FBXW7 (Q27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584429	NM_001349798.2(FBXW7):c.1855+1G>C	FBXW7	Single nucleotide variant (splice donor variant)	FBXW7-related disorder	GPathogenic
Select item 2582613	NM_001349798.2(FBXW7):c.2065C>T (p.Arg689Trp)	FBXW7 (R571W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 2580756	NM_001349798.2(FBXW7):c.835G>T (p.Asp279Tyr)	FBXW7, FBXW7-AS1 (D161Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2541777	NM_001349798.2(FBXW7):c.502-2381G>C	FBXW7 (G76R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540780	NM_001349798.2(FBXW7):c.673A>G (p.Ile225Val)	FBXW7 (I225V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506822	NM_001349798.2(FBXW7):c.631G>T (p.Asp211Tyr)	FBXW7 (D131Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2503844	NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)	FBXW7 (L216F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2501977	NM_001349798.2(FBXW7):c.1045A>G (p.Ser349Gly)	FBXW7 (S231G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446061	NM_001349798.2(FBXW7):c.1099C>T (p.Arg367Ter)	FBXW7 (R249* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2444651	NM_001349798.2(FBXW7):c.214T>A (p.Ser72Thr)	FBXW7 (S72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442534	NM_001349798.2(FBXW7):c.1651G>A (p.Gly551Ser)	FBXW7 (G433S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327216	NM_001349798.2(FBXW7):c.1182A>G (p.Ile394Met)	FBXW7 (I276M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301789	NM_001349798.2(FBXW7):c.138A>T (p.Arg46Ser)	FBXW7 (R46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266661	NM_001349798.2(FBXW7):c.17T>C (p.Leu6Pro)	FBXW7 (L6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225058	NM_001349798.2(FBXW7):c.302A>G (p.Asp101Gly)	FBXW7 (D101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222145	NM_001349798.2(FBXW7):c.566A>G (p.Lys189Arg)	FBXW7 (K109R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179801	NM_001349798.2(FBXW7):c.227A>T (p.Gln76Leu)	FBXW7 (Q76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170337	NM_001349798.2(FBXW7):c.2116A>G (p.Met706Val)	FBXW7 (M588V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095485	NM_001349798.2(FBXW7):c.1031C>G (p.Pro344Arg)	FBXW7 (P264R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809897	NM_001349798.2(FBXW7):c.270C>A (p.Asp90Glu)	FBXW7 (D90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804309	NM_001349798.2(FBXW7):c.1237-5T>G	FBXW7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1803684	NM_001349798.2(FBXW7):c.1843C>T (p.Gln615Ter)	FBXW7 (Q497* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1803418	NM_001349798.2(FBXW7):c.465C>A (p.His155Gln)	FBXW7 (H155Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800495	NM_001349798.2(FBXW7):c.1259A>T (p.His420Leu)	FBXW7 (H302L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1795776	NM_001349798.2(FBXW7):c.276A>G (p.Ser92=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1784689	NM_001349798.2(FBXW7):c.2028A>G (p.Arg676=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1784650	NM_001349798.2(FBXW7):c.2026A>C (p.Arg676=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1783473	NM_001349798.2(FBXW7):c.1071A>G (p.Arg357=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1782504	NM_001349798.2(FBXW7):c.1911A>G (p.Val637=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder +1 more	GLikely benign
Select item 1780935	NM_001349798.2(FBXW7):c.1830A>T (p.Thr610=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780081	NM_001349798.2(FBXW7):c.1785C>T (p.Val595=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778170	NM_001349798.2(FBXW7):c.1692T>C (p.Arg564=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1777425	NM_001349798.2(FBXW7):c.1659T>C (p.His553=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder +1 more	GLikely benign
Select item 1760740	NM_001349798.2(FBXW7):c.780T>C (p.Cys260=)	FBXW7, FBXW7-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1754450	NM_001349798.2(FBXW7):c.660A>G (p.Gln220=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1736785	NM_001349798.2(FBXW7):c.1161A>G (p.Leu387=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1723774	NM_001349798.2(FBXW7):c.1387A>G (p.Thr463Ala)	FBXW7 (T345A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723491	NM_001349798.2(FBXW7):c.1300A>G (p.Ile434Val)	FBXW7 (I316V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722937	NM_001349798.2(FBXW7):c.670C>T (p.Arg224Ter)	FBXW7 (R106* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1703001	NM_001349798.2(FBXW7):c.2020C>T (p.Arg674Trp)	FBXW7 (R674W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language +1 more	GPathogenic
Select item 1703000	NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly)	FBXW7 (D480G +2 more)	Single nucleotide variant (missense variant)	Pervasive developmental disorder	GLikely pathogenic
Select item 1702999	NM_001349798.2(FBXW7):c.2066G>A (p.Arg689Gln)	FBXW7 (R689Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1702998	NM_001349798.2(FBXW7):c.1267G>A (p.Gly423Arg)	FBXW7 (G423R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1702997	NM_001349798.2(FBXW7):c.1713_1714del (p.Asn572fs)	FBXW7 (N454fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1701898	NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter)	FBXW7 (K529* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1701892	NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter)	FBXW7, FBXW7-AS1 (R160* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic

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