"FBXW7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1782504	NM_001349798.2(FBXW7):c.1911A>G (p.Val637=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1777425	NM_001349798.2(FBXW7):c.1659T>C (p.His553=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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 3046931	NM_001349798.2(FBXW7):c.1419-10C>G	FBXW7	Single nucleotide variant (intron variant)	FBXW7-related disorder	GLikely benign
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 3058091	NM_001349798.2(FBXW7):c.1128G>T (p.Leu376=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
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 3061317	NM_001349798.2(FBXW7):c.1044_1045del (p.His348fs)	FBXW7 (H230fs +2 more)	Microsatellite (frameshift variant)	FBXW7-related disorder	GLikely pathogenic
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 3048590	NM_001349798.2(FBXW7):c.585-6_585-5dup	FBXW7	Duplication (intron variant)	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 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 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 134385	NM_001349798.2(FBXW7):c.479C>T (p.Pro160Leu)	FBXW7 (P160L)	Single nucleotide variant (missense 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 134381	NM_001349798.2(FBXW7):c.45_46insCCT (p.Thr15_Gly16insPro)	FBXW7	Insertion (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2633982	NM_001349798.2(FBXW7):c.37C>T (p.Arg13Ter)	FBXW7 (R13*)	Single nucleotide variant (nonsense)	FBXW7-related disorder	GUncertain significance

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Items: 20