RAB11FIP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 2337960	NM_014700.4(RAB11FIP3):c.19G>C (p.Ala7Pro)	RAB11FIP3 (A7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150576	NM_014700.4(RAB11FIP3):c.25C>T (p.Pro9Ser)	RAB11FIP3 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465970	NM_014700.4(RAB11FIP3):c.44C>T (p.Pro15Leu)	RAB11FIP3 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467953	NM_014700.4(RAB11FIP3):c.80C>G (p.Pro27Arg)	RAB11FIP3 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768733	NM_014700.4(RAB11FIP3):c.90A>G (p.Ala30=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783724	NM_014700.4(RAB11FIP3):c.114G>A (p.Glu38=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382068	NM_014700.4(RAB11FIP3):c.124G>A (p.Gly42Arg)	RAB11FIP3 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150566	NM_014700.4(RAB11FIP3):c.143C>G (p.Pro48Arg)	RAB11FIP3 (P48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375785	NM_014700.4(RAB11FIP3):c.221C>T (p.Pro74Leu)	RAB11FIP3 (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150575	NM_014700.4(RAB11FIP3):c.223G>A (p.Ala75Thr)	RAB11FIP3 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279447	NM_014700.4(RAB11FIP3):c.287C>A (p.Pro96Gln)	RAB11FIP3 (P96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249130	NM_014700.4(RAB11FIP3):c.311A>C (p.Asp104Ala)	RAB11FIP3 (D104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245354	NM_014700.4(RAB11FIP3):c.329C>A (p.Pro110Gln)	RAB11FIP3 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258150	NM_014700.4(RAB11FIP3):c.335C>G (p.Ser112Cys)	RAB11FIP3 (S112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228439	NM_014700.4(RAB11FIP3):c.362C>A (p.Pro121Gln)	RAB11FIP3 (P121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150577	NM_014700.4(RAB11FIP3):c.386C>T (p.Pro129Leu)	RAB11FIP3 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316305	NM_014700.4(RAB11FIP3):c.431G>T (p.Arg144Leu)	RAB11FIP3 (R144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150578	NM_014700.4(RAB11FIP3):c.458G>A (p.Arg153Gln)	RAB11FIP3 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557661	NM_014700.4(RAB11FIP3):c.487C>G (p.Pro163Ala)	RAB11FIP3 (P163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515654	NM_014700.4(RAB11FIP3):c.545C>T (p.Pro182Leu)	RAB11FIP3 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150579	NM_014700.4(RAB11FIP3):c.549G>C (p.Gln183His)	RAB11FIP3 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150580	NM_014700.4(RAB11FIP3):c.553T>G (p.Ser185Ala)	RAB11FIP3 (S185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510679	NM_014700.4(RAB11FIP3):c.554C>T (p.Ser185Leu)	RAB11FIP3 (S185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727407	NM_014700.4(RAB11FIP3):c.555G>C (p.Ser185=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252700	NM_014700.4(RAB11FIP3):c.805G>A (p.Gly269Arg)	RAB11FIP3 (G269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213887	NM_014700.4(RAB11FIP3):c.812C>T (p.Pro271Leu)	RAB11FIP3 (P271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742572	NM_014700.4(RAB11FIP3):c.828C>T (p.Tyr276=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279713	NM_014700.4(RAB11FIP3):c.833G>A (p.Gly278Asp)	RAB11FIP3 (G278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598377	NM_014700.4(RAB11FIP3):c.872C>T (p.Pro291Leu)	RAB11FIP3 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386363	NM_014700.4(RAB11FIP3):c.1018G>A (p.Gly340Arg)	RAB11FIP3 (G30R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734075	NM_014700.4(RAB11FIP3):c.1035C>T (p.Ala345=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535701	NM_014700.4(RAB11FIP3):c.1072A>G (p.Met358Val)	RAB11FIP3 (M48V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372510	NM_014700.4(RAB11FIP3):c.1073T>C (p.Met358Thr)	RAB11FIP3 (M358T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711636	NM_014700.4(RAB11FIP3):c.1084G>A (p.Asp362Asn)	RAB11FIP3 (D52N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727497	NM_014700.4(RAB11FIP3):c.1104G>T (p.Leu368=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596901	NM_014700.4(RAB11FIP3):c.1108C>T (p.Pro370Ser)	RAB11FIP3 (P370S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150564	NM_014700.4(RAB11FIP3):c.1112G>T (p.Gly371Val)	RAB11FIP3 (G371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728525	NM_014700.4(RAB11FIP3):c.1158C>T (p.Gly386=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785516	NM_014700.4(RAB11FIP3):c.1203G>A (p.Leu401=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645790	NM_014700.4(RAB11FIP3):c.1260G>A (p.Thr420=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 152602	GRCh38/hg38 16p13.3(chr16:492760-565476)x3	CAPN15, LINC00235 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 2486631	NM_014700.4(RAB11FIP3):c.1309C>T (p.His437Tyr)	RAB11FIP3 (H437Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150565	NM_014700.4(RAB11FIP3):c.1336G>T (p.Ala446Ser)	RAB11FIP3 (A446S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207553	NM_014700.4(RAB11FIP3):c.1360C>T (p.Leu454Phe)	RAB11FIP3 (L144F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482999	NM_014700.4(RAB11FIP3):c.1502C>T (p.Ala501Val)	RAB11FIP3 (A191V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150567	NM_014700.4(RAB11FIP3):c.1571G>A (p.Arg524Gln)	RAB11FIP3 (R214Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543856	NM_014700.4(RAB11FIP3):c.1624G>A (p.Glu542Lys)	RAB11FIP3 (E587K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543348	NM_014700.4(RAB11FIP3):c.1706T>C (p.Ile569Thr)	RAB11FIP3 (I259T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378598	NM_014700.4(RAB11FIP3):c.1720G>A (p.Glu574Lys)	RAB11FIP3 (E264K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150568	NM_014700.4(RAB11FIP3):c.1783G>A (p.Glu595Lys)	RAB11FIP3 (E285K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464555	NM_014700.4(RAB11FIP3):c.1785G>C (p.Glu595Asp)	RAB11FIP3 (E595D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282482	NM_014700.4(RAB11FIP3):c.1790A>G (p.Lys597Arg)	RAB11FIP3 (K287R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150569	NM_014700.4(RAB11FIP3):c.1808G>A (p.Arg603Lys)	RAB11FIP3 (R648K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559633	NM_014700.4(RAB11FIP3):c.1840G>C (p.Asp614His)	RAB11FIP3 (D304H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294039	NM_014700.4(RAB11FIP3):c.1927C>T (p.Arg643Trp)	RAB11FIP3 (R333W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150570	NM_014700.4(RAB11FIP3):c.1928G>A (p.Arg643Gln)	RAB11FIP3 (R643Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150571	NM_014700.4(RAB11FIP3):c.1939A>G (p.Ser647Gly)	RAB11FIP3 (S692G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459164	NM_014700.4(RAB11FIP3):c.1964A>G (p.His655Arg)	RAB11FIP3 (H655R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274547	NM_014700.4(RAB11FIP3):c.2116G>A (p.Glu706Lys)	RAB11FIP3 (E751K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746552	NM_014700.4(RAB11FIP3):c.2158-6C>T	RAB11FIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3150572	NM_014700.4(RAB11FIP3):c.2197C>T (p.Arg733Cys)	RAB11FIP3 (R733C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150574	NM_014700.4(RAB11FIP3):c.2228T>C (p.Val743Ala)	RAB11FIP3 (V788A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146999	GRCh38/hg38 16p13.3(chr16:521803-558532)x1	CAPN15, LINC00235 +3 more	Copy number loss	See cases	GBenign
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	RHOT2, TPSAB1 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1340380	GRCh37/hg19 16p13.3(chr16:480454-589830)x3	CAPN15, RAB11FIP3	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance

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