ClinVar for Gene (Select 6468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278229	NM_022039.4(FBXW4):c.1624T>C (p.Tyr542His)	FBXW4 (Y300H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278228	NM_022039.4(FBXW4):c.1697A>G (p.Asn566Ser)	FBXW4 (N324S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278226	NM_022039.4(FBXW4):c.1099G>A (p.Gly367Arg)	FBXW4 (G367R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278225	NM_022039.4(FBXW4):c.503A>C (p.Glu168Ala)	FBXW4, LOC130004563 (E168A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250370	NC_000010.10:g.103001852_103543913dup	BTRC, DPCD +4 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3250369	NC_000010.10:g.103012761_103546704dup	BTRC, DPCD +5 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3245035	NC_000010.10:g.(?_103190082)_(103384587_?)dup	BTRC, DPCD +2 more	Duplication	not provided	GUncertain significance
Select item 3245034	NC_000010.10:g.(?_102987027)_(103454397_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244998	NC_000010.10:g.(?_102987027)_(103372254_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244997	NC_000010.10:g.(?_102987027)_(103436213_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
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 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 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 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 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 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 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063157	GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3	BTRC, DPCD +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063128	GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063127	GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3020720	NM_022039.4(FBXW4):c.1302-17C>T	FBXW4	Single nucleotide variant (intron variant)	not provided	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 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 2960666	NM_022039.4(FBXW4):c.1301+12A>G	FBXW4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2684618	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
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 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 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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 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 2426705	NC_000010.10:g.(?_102987027)_(103384587_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 2182251	NM_022039.4(FBXW4):c.1387C>T (p.Leu463=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 2084606	NM_022039.4(FBXW4):c.609C>T (p.Leu203=)	FBXW4, LOC130004563	Single nucleotide variant (synonymous variant +2 more)	FBXW4-related disorder +1 more	GLikely benign
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 2064459	NM_022039.4(FBXW4):c.1263C>T (p.Cys421=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1981556	NM_022039.4(FBXW4):c.960C>T (p.Asp320=)	FBXW4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1807766	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103445585)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 1412304	NC_000010.10:g.(?_102987027)_(103530396_?)dup	BTRC, DPCD +4 more	Duplication	not provided	GUncertain significance
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 1174215	NM_022039.4(FBXW4):c.1302-204G>A	FBXW4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 879193	NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser)	FBXW4 (A106S)	Single nucleotide variant (missense variant +2 more)	Split hand-foot malformation 3 +1 more	GUncertain significance
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 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 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 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 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 877576	NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)	FBXW4 (V10A +1 more)	Single nucleotide variant (missense variant +1 more)	FBXW4-related disorder +3 more	GConflicting classifications of pathogenicity
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 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 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 815374	GRCh37/hg19 10q24.31-24.32(chr10:102925257-103401586)x3	POLL, BTRC +3 more	Copy number gain	not provided	GPathogenic
Select item 686411	GRCh37/hg19 10q24.32(chr10:103197122-103431579)x3	BTRC, DPCD +2 more	Copy number gain	not provided	GUncertain significance
Select item 686072	GRCh37/hg19 10q24.32(chr10:103362038-103392888)x3	DPCD, FBXW4	Copy number gain	not provided	GUncertain significance
Select item 635863	NC_000010.10:g.102928083_103377947dup	BTRC, DPCD +3 more	Duplication	Internal malformations	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
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 590885	Single allele	DPCD, BTRC +5 more	Duplication	Ectrodactyly	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563720	GRCh37/hg19 10q24.32(chr10:103197122-103432125)x3	DPCD, BTRC +2 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443481	GRCh37/hg19 10q24.32(chr10:103197122-103431466)x3	BTRC, DPCD +2 more	Copy number gain	See cases	GUncertain significance
Select item 443365	GRCh37/hg19 10q24.31-24.32(chr10:102949737-103432420)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443140	GRCh37/hg19 10q24.31-24.32(chr10:102949227-103482524)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 442901	GRCh37/hg19 10q24.32(chr10:103258861-103452974)x3	BTRC, DPCD +2 more	Copy number gain	See cases	GUncertain significance
Select item 442850	GRCh37/hg19 10q24.31-24.32(chr10:102947729-103488168)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441044	GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3	FBXW4	Copy number gain	not provided	Gnot provided
Select item 395169	GRCh37/hg19 10q24.32(chr10:103208804-103449273)x3	BTRC, DPCD +2 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 298549	NM_022039.4(FBXW4):c.134C>T (p.Ala45Val)	FBXW4 (A45V)	Single nucleotide variant (non-coding transcript variant +2 more)	Split hand-foot malformation 3	GLikely benign
Select item 298548	NM_022039.4(FBXW4):c.192G>A (p.Thr64=)	FBXW4	Single nucleotide variant (synonymous variant +2 more)	Split hand-foot malformation 3	GUncertain significance
Select item 298547	NM_022039.4(FBXW4):c.216G>A (p.Gly72=)	FBXW4	Single nucleotide variant (synonymous variant +2 more)	Split hand-foot malformation 3 +1 more	GBenign

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