Related gene-specific medical variations for Gene (Select 55294) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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
Select item 809724	GRCh37/hg19 4q31.3(chr4:153244033-153332955)x1	FBXW7	Copy number loss	not provided	GUncertain significance
Select item 376427	NM_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln)	FBXW7 (R658Q +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376426	NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)	FBXW7 (R505S +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376424	NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)	FBXW7 (R505L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376423	NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)	FBXW7 (R505G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376422	NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)	FBXW7 (R479G +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376421	NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)	FBXW7 (R479L +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376420	NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)	FBXW7 (R479P +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376419	NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)	FBXW7 (R479Q +2 more)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +11 more	GLikely pathogenic
Select item 376418	NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)	FBXW7 (R465G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376417	NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)	FBXW7 (R465L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376416	NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)	FBXW7 (R465P +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376415	NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)	FBXW7 (R465H +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376414	NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)	FBXW7 (R465C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 134384	NM_001349798.2(FBXW7):c.458C>G (p.Pro153Arg)	FBXW7 (P153R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134383	NM_001349798.2(FBXW7):c.58A>G (p.Arg20Gly)	FBXW7 (R20G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134380	NM_001349798.2(FBXW7):c.502-2437G>A	FBXW7 (S57N)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134379	NM_001349798.2(FBXW7):c.501+29101T>G	FBXW7 (F45C)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

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Links from Gene

Items: 24