FBXL20[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 3093526	NM_032875.3(FBXL20):c.1148G>A (p.Arg383Gln)	FBXL20 (R385Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217620	NM_032875.3(FBXL20):c.1139G>A (p.Ser380Asn)	FBXL20 (S417N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368531	NM_032875.3(FBXL20):c.985G>A (p.Val329Ile)	FBXL20 (V297I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461063	NM_032875.3(FBXL20):c.728G>T (p.Cys243Phe)	FBXL20 (C211F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093527	NM_032875.3(FBXL20):c.657C>G (p.His219Gln)	FBXL20 (H189Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518513	NM_032875.3(FBXL20):c.646A>G (p.Ile216Val)	FBXL20 (I186V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266491	NM_032875.3(FBXL20):c.617C>T (p.Thr206Met)	FBXL20 (T208M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487264	NM_032875.3(FBXL20):c.522G>T (p.Leu174Phe)	FBXL20 (L142F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382932	NM_032875.3(FBXL20):c.320A>G (p.Asn107Ser)	FBXL20 (N107S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471444	NM_032875.3(FBXL20):c.239G>A (p.Arg80Gln)	FBXL20 (R80Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093525	NM_032875.3(FBXL20):c.103C>T (p.Arg35Trp)	FBXL20 (R35W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60170	GRCh38/hg38 17q12(chr17:39365569-39612092)x3	CDK12, FBXL20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2685601	GRCh37/hg19 17q12(chr17:37371649-37472292)x1	FBXL20, STAC2	Copy number loss	not provided	GUncertain significance
Select item 815934	GRCh37/hg19 17q12(chr17:37323328-37551861)x3	CACNB1, STAC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395132	GRCh37/hg19 17q12(chr17:37381717-37596822)x3	FBXL20, MED1 +1 more	Copy number gain	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25