Related gene-specific medical variations for Gene (Select 10234) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120429	NM_001031692.3(LRRC17):c.610C>G (p.Arg204Gly)	FBXL13, LRRC17 (R204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120428	NM_001031692.3(LRRC17):c.498C>G (p.His166Gln)	FBXL13, LRRC17 (H166Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120427	NM_001031692.3(LRRC17):c.476G>A (p.Arg159His)	FBXL13, LRRC17 (R159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120425	NM_001031692.3(LRRC17):c.181C>T (p.His61Tyr)	FBXL13, LRRC17 (H61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120424	NM_001031692.3(LRRC17):c.112G>A (p.Gly38Ser)	FBXL13, LRRC17 (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607830	NM_001394494.2(FBXL13):c.1087G>A (p.Val363Ile)	FBXL13, LRRC17 (V273I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605804	NM_001031692.3(LRRC17):c.842A>C (p.Asn281Thr)	FBXL13, LRRC17 (N281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591958	NM_001394494.2(FBXL13):c.1082C>T (p.Pro361Leu)	FBXL13, LRRC17 (P271L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485858	NM_001031692.3(LRRC17):c.689C>G (p.Pro230Arg)	FBXL13, LRRC17 (P230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463655	NM_001031692.3(LRRC17):c.610C>T (p.Arg204Trp)	FBXL13, LRRC17 (R204W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385122	NM_001031692.3(LRRC17):c.611G>A (p.Arg204Gln)	FBXL13, LRRC17 (R204Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362733	NM_001031692.3(LRRC17):c.683G>A (p.Gly228Glu)	FBXL13, LRRC17 (G228E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337507	NM_001031692.3(LRRC17):c.70G>T (p.Gly24Cys)	FBXL13, LRRC17 (G24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333177	NM_001031692.3(LRRC17):c.341A>G (p.Gln114Arg)	FBXL13, LRRC17 (Q114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316247	NM_001031692.3(LRRC17):c.1169G>A (p.Gly390Glu)	FBXL13, LRRC17 (G390E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254867	NM_001031692.3(LRRC17):c.1316T>A (p.Ile439Lys)	FBXL13, LRRC17 (I439K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243258	NM_001394494.2(FBXL13):c.1150C>A (p.His384Asn)	FBXL13, LRRC17 (H294N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242073	NM_001031692.3(LRRC17):c.107G>A (p.Gly36Asp)	FBXL13, LRRC17 (G36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239179	NM_001031692.3(LRRC17):c.1130A>C (p.Glu377Ala)	FBXL13, LRRC17 (E377A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233541	NM_001031692.3(LRRC17):c.689C>T (p.Pro230Leu)	FBXL13, LRRC17 (P230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232588	NM_001394494.2(FBXL13):c.1123A>C (p.Asn375His)	FBXL13, LRRC17 (N285H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221467	NM_001031692.3(LRRC17):c.796A>T (p.Ile266Phe)	FBXL13, LRRC17 (I266F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 22