FBXL3[gene] and "single gene"[properties] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038515	NM_012158.4(FBXL3):c.1096C>T (p.Leu366=)	FBXL3	Single nucleotide variant (synonymous variant)	FBXL3-related disorder	GBenign
Select item 625421	NM_012158.4(FBXL3):c.1072T>C (p.Cys358Arg)	FBXL3 (C358R)	Single nucleotide variant (missense variant)	Intellectual disability, short stature, facial anomalies, and joint dislocations	GPathogenic
Select item 2316286	NM_012158.4(FBXL3):c.1057C>T (p.Arg353Cys)	FBXL3 (R353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093540	NM_012158.4(FBXL3):c.902A>G (p.Asp301Gly)	FBXL3 (D301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625420	NM_012158.4(FBXL3):c.884del (p.Leu295fs)	FBXL3 (L295fs)	Deletion (frameshift variant)	Intellectual disability, short stature, facial anomalies, and joint dislocations	GPathogenic
Select item 2558360	NM_012158.4(FBXL3):c.776T>C (p.Val259Ala)	FBXL3 (V259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1177304	NM_012158.4(FBXL3):c.751C>T (p.Arg251Ter)	FBXL3 (R251*)	Single nucleotide variant (nonsense)	Intellectual disability, short stature, facial anomalies, and joint dislocations	GPathogenic
Select item 3042007	NM_012158.4(FBXL3):c.644-9dup	FBXL3	Duplication (intron variant)	FBXL3-related disorder	GLikely benign
Select item 3049399	NM_012158.4(FBXL3):c.644-9del	FBXL3	Deletion (intron variant)	FBXL3-related disorder	GLikely benign
Select item 3251129	NM_012158.4(FBXL3):c.600C>G (p.Leu200=)	FBXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3278056	NM_012158.4(FBXL3):c.476A>C (p.His159Pro)	FBXL3 (H159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537307	NM_012158.4(FBXL3):c.473C>T (p.Ser158Phe)	FBXL3 (S158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285262	NM_012158.4(FBXL3):c.472-10T>G	FBXL3	Single nucleotide variant (intron variant)	Intellectual disability, short stature, facial anomalies, and joint dislocations +1 more	GBenign
Select item 3255282	NM_012158.4(FBXL3):c.472-1221T>C	FBXL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256829	NM_012158.4(FBXL3):c.471+1508A>G	FBXL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2318571	NM_012158.4(FBXL3):c.446G>A (p.Arg149Gln)	FBXL3 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625419	NM_012158.4(FBXL3):c.445C>T (p.Arg149Ter)	FBXL3 (R149*)	Single nucleotide variant (nonsense)	Intellectual disability, short stature, facial anomalies, and joint dislocations	GPathogenic
Select item 3093539	NM_012158.4(FBXL3):c.439A>G (p.Thr147Ala)	FBXL3 (T147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643849	NM_012158.4(FBXL3):c.438A>C (p.Ser146=)	FBXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377625	NM_012158.4(FBXL3):c.434T>C (p.Ile145Thr)	FBXL3 (I145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643850	NM_012158.4(FBXL3):c.387T>C (p.Asp129=)	FBXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228652	NM_012158.4(FBXL3):c.291G>T (p.Glu97Asp)	FBXL3 (E97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093538	NM_012158.4(FBXL3):c.283C>T (p.His95Tyr)	FBXL3 (H95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093537	NM_012158.4(FBXL3):c.172C>T (p.His58Tyr)	FBXL3 (H58Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24