RAB11FIP2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 154913	GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3	CASC2, EMX2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 2474236	NM_014904.3(RAB11FIP2):c.1439A>G (p.Tyr480Cys)	RAB11FIP2 (Y480C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150561	NM_014904.3(RAB11FIP2):c.1282A>G (p.Thr428Ala)	RAB11FIP2 (T428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350994	NM_014904.3(RAB11FIP2):c.1280C>G (p.Pro427Arg)	RAB11FIP2 (P427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263277	NM_014904.3(RAB11FIP2):c.1219C>T (p.Pro407Ser)	RAB11FIP2 (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471058	NM_014904.3(RAB11FIP2):c.1204T>C (p.Tyr402His)	RAB11FIP2 (Y402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150560	NM_014904.3(RAB11FIP2):c.1196A>G (p.Tyr399Cys)	RAB11FIP2 (Y399C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640875	NM_014904.3(RAB11FIP2):c.1158G>A (p.Leu386=)	RAB11FIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150558	NM_014904.3(RAB11FIP2):c.1145G>A (p.Ser382Asn)	RAB11FIP2 (S382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150557	NM_014904.3(RAB11FIP2):c.1062G>T (p.Arg354Ser)	RAB11FIP2 (R354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524322	NM_014904.3(RAB11FIP2):c.1047T>G (p.Asn349Lys)	RAB11FIP2 (N349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373764	NM_014904.3(RAB11FIP2):c.1001G>T (p.Ser334Ile)	RAB11FIP2 (S334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392190	NM_014904.3(RAB11FIP2):c.994T>C (p.Trp332Arg)	RAB11FIP2 (W332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279220	NM_014904.3(RAB11FIP2):c.986G>A (p.Ser329Asn)	RAB11FIP2 (S329N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150563	NM_014904.3(RAB11FIP2):c.893G>T (p.Gly298Val)	RAB11FIP2 (G298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273251	NM_014904.3(RAB11FIP2):c.833T>C (p.Phe278Ser)	RAB11FIP2 (F278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591658	NM_014904.3(RAB11FIP2):c.814C>T (p.His272Tyr)	RAB11FIP2 (H272Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384960	NM_014904.3(RAB11FIP2):c.787C>G (p.Pro263Ala)	RAB11FIP2 (P263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590677	NM_014904.3(RAB11FIP2):c.715G>C (p.Glu239Gln)	RAB11FIP2 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266093	NM_014904.3(RAB11FIP2):c.704A>G (p.His235Arg)	RAB11FIP2 (H235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545917	NM_014904.3(RAB11FIP2):c.590A>G (p.Asn197Ser)	RAB11FIP2 (N197S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225401	NM_014904.3(RAB11FIP2):c.494C>G (p.Ala165Gly)	RAB11FIP2 (A165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467356	NM_014904.3(RAB11FIP2):c.479C>T (p.Thr160Ile)	RAB11FIP2 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548560	NM_014904.3(RAB11FIP2):c.445G>T (p.Ala149Ser)	RAB11FIP2 (A149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239781	NM_014904.3(RAB11FIP2):c.389T>A (p.Ile130Asn)	RAB11FIP2 (I130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603316	NM_014904.3(RAB11FIP2):c.307A>G (p.Ile103Val)	RAB11FIP2 (I103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247488	NM_014904.3(RAB11FIP2):c.288A>C (p.Lys96Asn)	RAB11FIP2 (K96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479525	NM_014904.3(RAB11FIP2):c.130A>C (p.Lys44Gln)	RAB11FIP2 (K44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150559	NM_014904.3(RAB11FIP2):c.115A>G (p.Ile39Val)	RAB11FIP2 (I39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390052	NM_014904.3(RAB11FIP2):c.77A>G (p.Lys26Arg)	RAB11FIP2 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150562	NM_014904.3(RAB11FIP2):c.63A>T (p.Gln21His)	RAB11FIP2 (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 61