Related gene-specific medical variations for Gene (Select 6468) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 441044	GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3	FBXW4	Copy number gain	not provided	Gnot provided
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 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 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 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 298540	NM_022039.4(FBXW4):c.485AGG[6] (p.Glu168del)	LOC130004563, FBXW4 (E168del)	Microsatellite (inframe_deletion +2 more)	Ectrodactyly +1 more	GConflicting classifications of pathogenicity
Select item 298539	NM_022039.4(FBXW4):c.504GGC[3] (p.Ala170dup)	LOC130004563, FBXW4	Microsatellite (inframe_insertion +2 more)	not provided +1 more	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 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 286085	NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg)	FBXW4, LOC130004563 (G153R)	Single nucleotide variant (missense variant +2 more)	FBXW4-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 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

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Items: 28