Related gene-specific medical variations for Gene (Select 64839) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093503	NM_001163315.3(FBXL17):c.725C>T (p.Pro242Leu)	FBXL17, LOC129994325 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093502	NM_001163315.3(FBXL17):c.497C>T (p.Pro166Leu)	FBXL17, LOC129994326 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093501	NM_001163315.3(FBXL17):c.268G>A (p.Ala90Thr)	FBXL17, LOC129994326 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612628	NM_001163315.3(FBXL17):c.176G>A (p.Cys59Tyr)	FBXL17, LOC129994326 (C59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601896	NM_001163315.3(FBXL17):c.265G>C (p.Gly89Arg)	FBXL17, LOC129994326 (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590584	NM_001163315.3(FBXL17):c.280G>T (p.Ala94Ser)	FBXL17, LOC129994326 (A94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548902	NM_001163315.3(FBXL17):c.569C>T (p.Pro190Leu)	FBXL17, LOC129994326 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544634	NM_001163315.3(FBXL17):c.385G>T (p.Ala129Ser)	FBXL17, LOC129994326 (A129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495657	NM_001163315.3(FBXL17):c.91C>T (p.Leu31Phe)	FBXL17, LOC129994326 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493847	NM_001163315.3(FBXL17):c.533T>A (p.Leu178His)	FBXL17, LOC129994326 (L178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472973	NM_001163315.3(FBXL17):c.73C>T (p.Arg25Cys)	FBXL17, LOC129994326 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464675	NM_001163315.3(FBXL17):c.575C>T (p.Pro192Leu)	FBXL17, LOC129994326 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376293	NM_001163315.3(FBXL17):c.517C>T (p.Pro173Ser)	FBXL17, LOC129994326 (P173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362032	NM_001163315.3(FBXL17):c.148A>G (p.Ser50Gly)	FBXL17, LOC129994326 (S50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348862	NM_001163315.3(FBXL17):c.259C>T (p.Arg87Trp)	FBXL17, LOC129994326 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346533	NM_001163315.3(FBXL17):c.676G>A (p.Gly226Ser)	FBXL17, LOC129994325 (G226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333837	NM_001163315.3(FBXL17):c.217C>T (p.Pro73Ser)	FBXL17, LOC129994326 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333801	NM_001163315.3(FBXL17):c.124C>G (p.Pro42Ala)	FBXL17, LOC129994326 (P42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296852	NM_001163315.3(FBXL17):c.688G>C (p.Gly230Arg)	FBXL17, LOC129994325 (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268894	NM_001163315.3(FBXL17):c.281C>T (p.Ala94Val)	FBXL17, LOC129994326 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240662	NM_001163315.3(FBXL17):c.166C>T (p.Arg56Cys)	FBXL17, LOC129994326 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237500	NM_001163315.3(FBXL17):c.719C>A (p.Pro240His)	FBXL17, LOC129994325 (P240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980173	GRCh37/hg19 5q21.3(chr5:107306322-107623501)x1	FBXL17	Copy number loss	not provided	GUncertain significance
Select item 814720	GRCh37/hg19 5q21.3(chr5:107168048-107526811)x3	FBXL17	Copy number gain	not provided	GLikely benign
Select item 780547	NM_001163315.3(FBXL17):c.305G>A (p.Arg102Gln)	FBXL17, LOC129994326 (R102Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735710	NM_001163315.3(FBXL17):c.141G>A (p.Ala47=)	FBXL17, LOC129994326	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 442125	GRCh37/hg19 5q21.3(chr5:107251497-107540342)x1	FBXL17	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 27