RAB11FIP5[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 2270060	NM_001371272.1(RAB11FIP5):c.3968C>G (p.Pro1323Arg)	RAB11FIP5 (P1323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045842	NM_001371272.1(RAB11FIP5):c.3966C>T (p.Pro1322=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 3043195	NM_001371272.1(RAB11FIP5):c.3963C>G (p.Gly1321=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 790506	NM_001371272.1(RAB11FIP5):c.3963C>T (p.Gly1321=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3150596	NM_001371272.1(RAB11FIP5):c.3962G>T (p.Gly1321Val)	RAB11FIP5 (G650V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734294	NM_001371272.1(RAB11FIP5):c.3909G>A (p.Arg1303=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753568	NM_001371272.1(RAB11FIP5):c.3873C>T (p.Asp1291=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440943	NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln)	RAB11FIP5 (R619Q +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2221794	NM_001371272.1(RAB11FIP5):c.3868C>T (p.Arg1290Trp)	RAB11FIP5 (R1290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051484	NM_001371272.1(RAB11FIP5):c.3854G>A (p.Arg1285Gln)	RAB11FIP5 (R1285Q +1 more)	Single nucleotide variant (missense variant)	RAB11FIP5-related disorder	GLikely benign
Select item 721227	NM_001371272.1(RAB11FIP5):c.3819C>T (p.His1273=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150594	NM_001371272.1(RAB11FIP5):c.3631G>A (p.Asp1211Asn)	RAB11FIP5 (D1211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312092	NM_001371272.1(RAB11FIP5):c.3610G>A (p.Ala1204Thr)	RAB11FIP5 (A533T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739314	NM_001371272.1(RAB11FIP5):c.3592G>A (p.Val1198Met)	RAB11FIP5 (V527M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731080	NM_001371272.1(RAB11FIP5):c.1568+8G>A	RAB11FIP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2537326	NM_001371272.1(RAB11FIP5):c.1558C>A (p.Gln520Lys)	RAB11FIP5 (Q520K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464201	NM_001371272.1(RAB11FIP5):c.1553C>T (p.Pro518Leu)	RAB11FIP5 (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771332	NM_001371272.1(RAB11FIP5):c.1478C>T (p.Ala493Val)	RAB11FIP5 (A493V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2359020	NM_001371272.1(RAB11FIP5):c.1454A>G (p.Glu485Gly)	RAB11FIP5 (E485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217852	NM_001371272.1(RAB11FIP5):c.1442G>A (p.Ser481Asn)	RAB11FIP5 (S481N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458315	NM_001371272.1(RAB11FIP5):c.1439G>A (p.Arg480Gln)	RAB11FIP5 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741946	NM_001371272.1(RAB11FIP5):c.1435C>T (p.Arg479Cys)	RAB11FIP5 (R479C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2404876	NM_001371272.1(RAB11FIP5):c.1421G>A (p.Arg474Gln)	RAB11FIP5 (R474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052564	NM_001371272.1(RAB11FIP5):c.1380C>T (p.Pro460=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 3150593	NM_001371272.1(RAB11FIP5):c.1361G>A (p.Arg454Gln)	RAB11FIP5 (R454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218976	NM_001371272.1(RAB11FIP5):c.1355G>C (p.Gly452Ala)	RAB11FIP5 (G452A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051737	NM_001371272.1(RAB11FIP5):c.1348_1350del (p.Lys450del)	RAB11FIP5 (K450del)	Deletion	RAB11FIP5-related disorder	GLikely benign
Select item 3150592	NM_001371272.1(RAB11FIP5):c.1306G>T (p.Val436Phe)	RAB11FIP5 (V436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312090	NM_001371272.1(RAB11FIP5):c.1290G>C (p.Glu430Asp)	RAB11FIP5 (E430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748546	NM_001371272.1(RAB11FIP5):c.1290G>A (p.Glu430=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3150591	NM_001371272.1(RAB11FIP5):c.1285C>T (p.Pro429Ser)	RAB11FIP5 (P429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595192	NM_001371272.1(RAB11FIP5):c.1279C>T (p.Arg427Trp)	RAB11FIP5 (R427W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255786	NM_001371272.1(RAB11FIP5):c.1249G>T (p.Ala417Ser)	RAB11FIP5 (A417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150590	NM_001371272.1(RAB11FIP5):c.1111G>A (p.Val371Ile)	RAB11FIP5 (V371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150589	NM_001371272.1(RAB11FIP5):c.1088C>T (p.Pro363Leu)	RAB11FIP5 (P363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038934	NM_001371272.1(RAB11FIP5):c.1076C>T (p.Ser359Leu)	RAB11FIP5 (S359L)	Single nucleotide variant (missense variant)	RAB11FIP5-related disorder	GLikely benign
Select item 3150588	NM_001371272.1(RAB11FIP5):c.1063C>T (p.Arg355Cys)	RAB11FIP5 (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312091	NM_001371272.1(RAB11FIP5):c.1057C>T (p.Arg353Trp)	RAB11FIP5 (R353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303418	NM_001371272.1(RAB11FIP5):c.1052C>T (p.Pro351Leu)	RAB11FIP5 (P351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310559	NM_001371272.1(RAB11FIP5):c.1049G>T (p.Gly350Val)	RAB11FIP5 (G350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150587	NM_001371272.1(RAB11FIP5):c.1048G>T (p.Gly350Cys)	RAB11FIP5 (G350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150586	NM_001371272.1(RAB11FIP5):c.1022G>T (p.Ser341Ile)	RAB11FIP5 (S341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488646	NM_001371272.1(RAB11FIP5):c.991G>A (p.Ala331Thr)	RAB11FIP5 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150603	NM_001371272.1(RAB11FIP5):c.974A>G (p.Gln325Arg)	RAB11FIP5 (Q325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150602	NM_001371272.1(RAB11FIP5):c.955C>T (p.Arg319Trp)	RAB11FIP5 (R319W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058561	NM_001371272.1(RAB11FIP5):c.908A>T (p.Lys303Met)	RAB11FIP5 (K303M)	Single nucleotide variant (missense variant)	RAB11FIP5-related disorder	GBenign
Select item 2298728	NM_001371272.1(RAB11FIP5):c.864A>C (p.Glu288Asp)	RAB11FIP5 (E288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592616	NM_001371272.1(RAB11FIP5):c.830G>A (p.Arg277His)	RAB11FIP5 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323841	NM_001371272.1(RAB11FIP5):c.830G>T (p.Arg277Leu)	RAB11FIP5 (R277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362377	NM_001371272.1(RAB11FIP5):c.829C>T (p.Arg277Cys)	RAB11FIP5 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235349	NM_001371272.1(RAB11FIP5):c.806G>C (p.Gly269Ala)	RAB11FIP5 (G269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570217	NM_001371272.1(RAB11FIP5):c.788G>A (p.Gly263Glu)	RAB11FIP5 (G263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331186	NM_001371272.1(RAB11FIP5):c.788G>C (p.Gly263Ala)	RAB11FIP5 (G263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150600	NM_001371272.1(RAB11FIP5):c.749C>A (p.Thr250Asn)	RAB11FIP5 (T250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321880	NM_001371272.1(RAB11FIP5):c.745A>G (p.Asn249Asp)	RAB11FIP5 (N249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374433	NM_001371272.1(RAB11FIP5):c.731C>G (p.Ser244Cys)	RAB11FIP5 (S244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150599	NM_001371272.1(RAB11FIP5):c.721C>T (p.Arg241Cys)	RAB11FIP5 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275598	NM_001371272.1(RAB11FIP5):c.709C>T (p.Arg237Cys)	RAB11FIP5 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610102	NM_001371272.1(RAB11FIP5):c.530T>C (p.Met177Thr)	RAB11FIP5 (M177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213963	NM_001371272.1(RAB11FIP5):c.478G>A (p.Gly160Ser)	RAB11FIP5 (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736814	NM_001371272.1(RAB11FIP5):c.408C>T (p.Gly136=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302777	NM_001371272.1(RAB11FIP5):c.319G>A (p.Glu107Lys)	RAB11FIP5 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722900	NM_001371272.1(RAB11FIP5):c.309C>T (p.Ala103=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651026	NM_001371272.1(RAB11FIP5):c.306C>T (p.Ser102=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495908	NM_001371272.1(RAB11FIP5):c.299C>T (p.Ala100Val)	RAB11FIP5 (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150597	NM_001371272.1(RAB11FIP5):c.292T>C (p.Trp98Arg)	RAB11FIP5 (W98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039671	NM_001371272.1(RAB11FIP5):c.261G>C (p.Arg87=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 2376397	NM_001371272.1(RAB11FIP5):c.259C>T (p.Arg87Trp)	RAB11FIP5 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039252	NM_001371272.1(RAB11FIP5):c.255G>C (p.Leu85=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 783976	NM_001371272.1(RAB11FIP5):c.235C>G (p.Pro79Ala)	RAB11FIP5 (P79A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2534514	NM_001371272.1(RAB11FIP5):c.192C>G (p.His64Gln)	RAB11FIP5 (H64Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 750362	NM_001371272.1(RAB11FIP5):c.192C>T (p.His64=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534513	NM_001371272.1(RAB11FIP5):c.191A>C (p.His64Pro)	RAB11FIP5 (H64P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312087	NM_001371272.1(RAB11FIP5):c.85C>T (p.Arg29Cys)	RAB11FIP5 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312088	NM_001371272.1(RAB11FIP5):c.66G>C (p.Gln22His)	RAB11FIP5 (Q22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554928	NM_001371272.1(RAB11FIP5):c.52C>T (p.Pro18Ser)	RAB11FIP5 (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229402	NM_001371272.1(RAB11FIP5):c.38C>G (p.Pro13Arg)	RAB11FIP5 (P13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406457	NM_001371272.1(RAB11FIP5):c.32C>T (p.Ala11Val)	RAB11FIP5 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150598	NM_001371272.1(RAB11FIP5):c.29C>T (p.Ala10Val)	RAB11FIP5 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355651	NM_001371272.1(RAB11FIP5):c.21G>T (p.Ala7=)	RAB11FIP5	Single nucleotide variant (synonymous variant)	RAB11FIP5-related disorder	GLikely benign
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1056266	NC_000002.11:g.(?_73114549)_(73836749_?)dup	NOTO, ALMS1 +9 more	Duplication	Alstrom syndrome	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 93