ClinVar for Gene (Select 9727) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3150579	NM_014700.4(RAB11FIP3):c.549G>C (p.Gln183His)	RAB11FIP3 (Q183H)	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 3150577	NM_014700.4(RAB11FIP3):c.386C>T (p.Pro129Leu)	RAB11FIP3 (P129L)	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 3150575	NM_014700.4(RAB11FIP3):c.223G>A (p.Ala75Thr)	RAB11FIP3 (A75T)	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 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 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 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 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 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 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 3150566	NM_014700.4(RAB11FIP3):c.143C>G (p.Pro48Arg)	RAB11FIP3 (P48R)	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 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 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645790	NM_014700.4(RAB11FIP3):c.1260G>A (p.Thr420=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2557661	NM_014700.4(RAB11FIP3):c.487C>G (p.Pro163Ala)	RAB11FIP3 (P163A)	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 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 2515654	NM_014700.4(RAB11FIP3):c.545C>T (p.Pro182Leu)	RAB11FIP3 (P182L)	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 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 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 2467953	NM_014700.4(RAB11FIP3):c.80C>G (p.Pro27Arg)	RAB11FIP3 (P27R)	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 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 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 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	UNKL, UQCC4 +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	PDIA2, ARHGDIG +12 more	Duplication	Epilepsy	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 2382068	NM_014700.4(RAB11FIP3):c.124G>A (p.Gly42Arg)	RAB11FIP3 (G42R)	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 2375785	NM_014700.4(RAB11FIP3):c.221C>T (p.Pro74Leu)	RAB11FIP3 (P74L)	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 2337960	NM_014700.4(RAB11FIP3):c.19G>C (p.Ala7Pro)	RAB11FIP3 (A7P)	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 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 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 2279713	NM_014700.4(RAB11FIP3):c.833G>A (p.Gly278Asp)	RAB11FIP3 (G278D)	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 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 2258150	NM_014700.4(RAB11FIP3):c.335C>G (p.Ser112Cys)	RAB11FIP3 (S112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2228439	NM_014700.4(RAB11FIP3):c.362C>A (p.Pro121Gln)	RAB11FIP3 (P121Q)	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 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 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
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 785516	NM_014700.4(RAB11FIP3):c.1203G>A (p.Leu401=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783724	NM_014700.4(RAB11FIP3):c.114G>A (p.Glu38=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768733	NM_014700.4(RAB11FIP3):c.90A>G (p.Ala30=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746552	NM_014700.4(RAB11FIP3):c.2158-6C>T	RAB11FIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742572	NM_014700.4(RAB11FIP3):c.828C>T (p.Tyr276=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734075	NM_014700.4(RAB11FIP3):c.1035C>T (p.Ala345=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728525	NM_014700.4(RAB11FIP3):c.1158C>T (p.Gly386=)	RAB11FIP3	Single nucleotide variant (synonymous 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 727407	NM_014700.4(RAB11FIP3):c.555G>C (p.Ser185=)	RAB11FIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 688969	GRCh37/hg19 16p13.3(chr16:390858-546267)x1	AXIN1, DECR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 686891	GRCh37/hg19 16p13.3(chr16:504723-585516)x3	CAPN15, RAB11FIP3	Copy number gain	not provided	GUncertain significance
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564255	GRCh37/hg19 16p13.3(chr16:293387-614930)x1	PGAP6, PDIA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2