FBXW4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 138

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 more	Copy number gain	See cases	GPathogenic
Select item 155194	GRCh38/hg38 10q24.31-24.32(chr10:101177305-101719109)x3	BTRC, DPCD +28 more	Copy number gain	See cases	GPathogenic
Select item 148343	GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3	BTRC, DPCD +27 more	Copy number gain	See cases	GPathogenic
Select item 59725	GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3	BTRC, DPCD +13 more	Copy number gain	See cases	GPathogenic
Select item 58778	GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1	BTRC, DPCD +11 more	Copy number loss	See cases	GPathogenic
Select item 146868	GRCh38/hg38 10q24.32(chr10:101434986-101689541)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 148029	GRCh38/hg38 10q24.32(chr10:101492028-101682260)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 154981	GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3	BTRC, DPCD +15 more	Copy number gain	See cases	GUncertain significance
Select item 147527	GRCh38/hg38 10q24.32(chr10:101599084-101676484)x3	DPCD, FBXW4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 298522	NM_022039.4(FBXW4):c.*606A>C	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GUncertain significance
Select item 879142	NM_022039.4(FBXW4):c.*600G>A	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298523	NM_022039.4(FBXW4):c.*453C>T	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 879143	NM_022039.4(FBXW4):c.*381C>G	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298524	NM_022039.4(FBXW4):c.311_314dup	FBXW4	Duplication (3 prime UTR variant +1 more)	Ectrodactyly	GUncertain significance
Select item 298525	NM_022039.4(FBXW4):c.*259C>T	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GBenign
Select item 298526	NM_022039.4(FBXW4):c.*233G>T	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 879144	NM_022039.4(FBXW4):c.*204G>A	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 298527	NM_022039.4(FBXW4):c.*7G>C	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3 +1 more	GBenign
Select item 880345	NM_022039.4(FBXW4):c.*3G>A	FBXW4	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 2715532	NM_022039.4(FBXW4):c.1693C>G (p.Gln565Glu)	FBXW4 (Q323E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2772510	NM_022039.4(FBXW4):c.1680C>A (p.His560Gln)	FBXW4 (H318Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 931193	NM_022039.4(FBXW4):c.1673_1679dup (p.His560fs)	FBXW4 (H560fs +1 more)	Duplication (frameshift variant +1 more)	See cases	GUncertain significance
Select item 931194	NM_022039.4(FBXW4):c.1663_1664del (p.Leu555fs)	FBXW4 (L555fs +1 more)	Deletion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 298528	NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr)	FBXW4 (A553T +1 more)	Single nucleotide variant (missense variant +1 more)	Split hand-foot malformation 3 +1 more	GUncertain significance
Select item 2084686	NM_022039.4(FBXW4):c.1633C>T (p.Arg545Cys)	FBXW4 (R545C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2217895	NM_022039.4(FBXW4):c.1574C>A (p.Ala525Asp)	FBXW4 (A525D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599446	NM_022039.4(FBXW4):c.1562G>A (p.Arg521Gln)	FBXW4 (R279Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 880346	NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp)	FBXW4 (R275W +1 more)	Single nucleotide variant (missense variant +1 more)	Split hand-foot malformation 3	GUncertain significance
Select item 1988838	NM_022039.4(FBXW4):c.1535A>C (p.Tyr512Ser)	FBXW4 (Y512S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2243330	NM_022039.4(FBXW4):c.1473C>A (p.His491Gln)	FBXW4 (H249Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 298529	NM_022039.4(FBXW4):c.1473C>T (p.His491=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298530	NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys)	FBXW4 (E247K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2217024	NM_022039.4(FBXW4):c.1438G>A (p.Val480Ile)	FBXW4 (V238I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 298531	NM_022039.4(FBXW4):c.1437C>T (p.Ser479=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 2305978	NM_022039.4(FBXW4):c.1415G>A (p.Arg472His)	FBXW4 (R230H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 281768	NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	Split hand-foot malformation 3 +2 more	GBenign
Select item 3093854	NM_022039.4(FBXW4):c.1394G>A (p.Cys465Tyr)	FBXW4 (C223Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2182251	NM_022039.4(FBXW4):c.1387C>T (p.Leu463=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	FBXW4-related condition +1 more	GLikely benign
Select item 283571	NM_022039.4(FBXW4):c.1380C>T (p.Phe460=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2978870	NM_022039.4(FBXW4):c.1357G>T (p.Asp453Tyr)	FBXW4 (D211Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 298532	NM_022039.4(FBXW4):c.1302-9C>T	FBXW4	Single nucleotide variant (intron variant)	Split hand-foot malformation 3	GUncertain significance
Select item 3020720	NM_022039.4(FBXW4):c.1302-17C>T	FBXW4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1174215	NM_022039.4(FBXW4):c.1302-204G>A	FBXW4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960666	NM_022039.4(FBXW4):c.1301+12A>G	FBXW4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3093853	NM_022039.4(FBXW4):c.1277C>A (p.Pro426His)	FBXW4 (P184H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2064459	NM_022039.4(FBXW4):c.1263C>T (p.Cys421=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 298533	NM_022039.4(FBXW4):c.1254G>A (p.Thr418=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	Split hand-foot malformation 3	GLikely benign
Select item 3093852	NM_022039.4(FBXW4):c.1253C>T (p.Thr418Met)	FBXW4 (T176M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 298534	NM_022039.4(FBXW4):c.1235+13T>G	FBXW4	Single nucleotide variant (intron variant)	Split hand-foot malformation 3 +1 more	GLikely benign
Select item 2216622	NM_022039.4(FBXW4):c.1202G>A (p.Arg401Gln)	FBXW4 (R159Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 298535	NM_022039.4(FBXW4):c.1181A>G (p.His394Arg)	FBXW4 (H152R +1 more)	Single nucleotide variant (missense variant)	Split hand-foot malformation 3	GUncertain significance
Select item 877573	NM_022039.4(FBXW4):c.1170G>T (p.Gly390=)	FBXW4	Single nucleotide variant (synonymous variant)	Split hand-foot malformation 3	GUncertain significance
Select item 2988097	NM_022039.4(FBXW4):c.1140+3G>A	FBXW4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 877574	NM_022039.4(FBXW4):c.1011T>C (p.Asp337=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	Split hand-foot malformation 3 +1 more	GBenign/Likely benign
Select item 2255843	NM_022039.4(FBXW4):c.991A>G (p.Ile331Val)	FBXW4 (I331V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2075861	NM_022039.4(FBXW4):c.961G>A (p.Val321Ile)	FBXW4 (V321I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981556	NM_022039.4(FBXW4):c.960C>T (p.Asp320=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 291233	NM_022039.4(FBXW4):c.925C>T (p.Arg309Trp)	FBXW4 (R67W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 298536	NM_022039.4(FBXW4):c.923G>A (p.Arg308His)	FBXW4 (R308H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2390834	NM_022039.4(FBXW4):c.899G>A (p.Arg300His)	FBXW4 (R300H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2264605	NM_022039.4(FBXW4):c.877T>A (p.Phe293Ile)	FBXW4 (F293I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251316	NM_022039.4(FBXW4):c.872C>G (p.Ala291Gly)	FBXW4 (A49G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547179	NM_022039.4(FBXW4):c.850G>T (p.Asp284Tyr)	FBXW4 (D284Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623381	NM_022039.4(FBXW4):c.845A>G (p.Glu282Gly)	FBXW4 (E282G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 877575	NM_022039.4(FBXW4):c.822-11C>T	FBXW4	Single nucleotide variant (intron variant)	Split hand-foot malformation 3	GLikely benign
Select item 283568	NM_022039.4(FBXW4):c.784C>T (p.Arg262Cys)	FBXW4 (R262C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 877576	NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)	FBXW4 (V10A +1 more)	Single nucleotide variant (missense variant +1 more)	FBXW4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2384452	NM_022039.4(FBXW4):c.752G>A (p.Arg251Gln)	FBXW4 (R251Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 298537	NM_022039.4(FBXW4):c.726-12G>T	FBXW4	Single nucleotide variant (intron variant)	Split hand-foot malformation 3 +1 more	GConflicting classifications of pathogenicity
Select item 878594	NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser)	FBXW4, LOC130004563 (G239S)	Single nucleotide variant (non-coding transcript variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298538	NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln)	FBXW4, LOC130004563 (R237Q)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 2833801	NM_022039.4(FBXW4):c.707C>A (p.Thr236Lys)	FBXW4, LOC130004563 (T236K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3093849	NM_022039.4(FBXW4):c.692T>G (p.Leu231Arg)	FBXW4, LOC130004563 (L231R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2084606	NM_022039.4(FBXW4):c.609C>T (p.Leu203=)	FBXW4, LOC130004563	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3093848	NM_022039.4(FBXW4):c.589T>C (p.Tyr197His)	FBXW4, LOC130004563 (Y197H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2640771	NM_022039.4(FBXW4):c.536C>T (p.Ala179Val)	FBXW4, LOC130004563 (A179V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 193447	NM_022039.4(FBXW4):c.534C>G (p.Ala178=)	FBXW4, LOC130004563	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1408837	NM_022039.4(FBXW4):c.521C>G (p.Ala174Gly)	FBXW4, LOC130004563 (A174G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 298539	NM_022039.4(FBXW4):c.504GGC[3] (p.Ala170dup)	FBXW4, LOC130004563	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GUncertain significance
Select item 878595	NM_022039.4(FBXW4):c.507G>A (p.Ala169=)	FBXW4, LOC130004563	Single nucleotide variant (synonymous variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 2474356	NM_022039.4(FBXW4):c.506C>T (p.Ala169Val)	FBXW4, LOC130004563 (A169V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 593538	NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup)	FBXW4, LOC130004563	Microsatellite (inframe_insertion +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 298540	NM_022039.4(FBXW4):c.485AGG[6] (p.Glu168del)	FBXW4, LOC130004563 (E168del)	Microsatellite (inframe_deletion +2 more)	Ectrodactyly +1 more	GConflicting classifications of pathogenicity
Select item 2094754	NM_022039.4(FBXW4):c.499G>C (p.Glu167Gln)	FBXW4, LOC130004563 (E167Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 288329	NM_022039.4(FBXW4):c.499G>A (p.Glu167Lys)	FBXW4, LOC130004563 (E167K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3093850	NM_022039.4(FBXW4):c.496G>A (p.Glu166Lys)	FBXW4, LOC130004563 (E166K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 298541	NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys)	FBXW4, LOC130004563 (E165K)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 193448	NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro)	FBXW4, LOC130004563 (A158P)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 2799570	NM_022039.4(FBXW4):c.467T>C (p.Met156Thr)	FBXW4, LOC130004563 (M156T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 193449	NM_022039.4(FBXW4):c.461T>A (p.Val154Glu)	LOC130004563, FBXW4 (V154E)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3 +2 more	GBenign
Select item 286085	NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg)	FBXW4, LOC130004563 (G153R)	Single nucleotide variant (missense variant +2 more)	FBXW4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 298542	NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp)	FBXW4, LOC130004563 (A147D)	Single nucleotide variant (non-coding transcript variant +2 more)	Split hand-foot malformation 3 +1 more	GBenign
Select item 298543	NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter)	FBXW4, LOC130004563 (W146*)	Single nucleotide variant (nonsense +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298544	NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly)	FBXW4, LOC130004563 (R137G)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298545	NM_022039.4(FBXW4):c.374T>C (p.Val125Ala)	FBXW4 (V125A)	Single nucleotide variant (missense variant +2 more)	Ectrodactyly	GUncertain significance
Select item 298546	NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu)	FBXW4 (G118E)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3	GLikely benign
Select item 879193	NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser)	FBXW4 (A106S)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3	GUncertain significance

<< First< Prev

Page of 2