TBC1D9[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 2273172	NM_015130.3(TBC1D9):c.3785C>T (p.Ser1262Leu)	TBC1D9 (S1262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370212	NM_015130.3(TBC1D9):c.3670C>G (p.Pro1224Ala)	TBC1D9 (P1224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605768	NM_015130.3(TBC1D9):c.3640G>A (p.Glu1214Lys)	TBC1D9 (E1214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618698	NM_015130.3(TBC1D9):c.3620G>A (p.Arg1207Gln)	TBC1D9 (R1207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248097	NM_015130.3(TBC1D9):c.3619C>T (p.Arg1207Trp)	TBC1D9 (R1207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251086	NM_015130.3(TBC1D9):c.3587C>T (p.Thr1196Met)	TBC1D9 (T1196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 690308	NM_015130.3(TBC1D9):c.3535C>T (p.His1179Tyr)	TBC1D9 (H1179Y)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2590160	NM_015130.3(TBC1D9):c.3479G>T (p.Ser1160Ile)	TBC1D9 (S1160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464316	NM_015130.3(TBC1D9):c.3356C>T (p.Pro1119Leu)	TBC1D9 (P1119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174736	NM_015130.3(TBC1D9):c.3326C>T (p.Ser1109Phe)	TBC1D9 (S1109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493187	NM_015130.3(TBC1D9):c.3297A>C (p.Lys1099Asn)	TBC1D9 (K1099N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324755	NM_015130.3(TBC1D9):c.3289C>T (p.Pro1097Ser)	TBC1D9 (P1097S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174735	NM_015130.3(TBC1D9):c.3280G>A (p.Val1094Met)	TBC1D9 (V1094M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 767977	NM_015130.3(TBC1D9):c.2975-3T>C	TBC1D9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2334623	NM_015130.3(TBC1D9):c.2816C>T (p.Pro939Leu)	TBC1D9 (P939L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294559	NM_015130.3(TBC1D9):c.2803G>A (p.Val935Ile)	TBC1D9 (V935I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380699	NM_015130.3(TBC1D9):c.2720A>C (p.Asn907Thr)	TBC1D9 (N907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363556	NM_015130.3(TBC1D9):c.2665G>A (p.Val889Ile)	TBC1D9 (V889I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602587	NM_015130.3(TBC1D9):c.2626G>T (p.Ala876Ser)	TBC1D9 (A876S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174734	NM_015130.3(TBC1D9):c.2581C>G (p.Leu861Val)	TBC1D9 (L861V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467640	NM_015130.3(TBC1D9):c.2548G>C (p.Ala850Pro)	TBC1D9 (A850P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469262	NM_015130.3(TBC1D9):c.2507C>A (p.Ala836Glu)	TBC1D9 (A836E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383222	NM_015130.3(TBC1D9):c.2423C>T (p.Thr808Met)	TBC1D9 (T808M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237712	NM_015130.3(TBC1D9):c.2408C>A (p.Thr803Lys)	TBC1D9 (T803K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174733	NM_015130.3(TBC1D9):c.2354G>T (p.Arg785Leu)	TBC1D9 (R785L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597377	NM_015130.3(TBC1D9):c.2354G>A (p.Arg785Gln)	TBC1D9 (R785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174732	NM_015130.3(TBC1D9):c.2353C>T (p.Arg785Trp)	TBC1D9 (R785W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537251	NM_015130.3(TBC1D9):c.2303T>A (p.Val768Glu)	TBC1D9 (V768E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174731	NM_015130.3(TBC1D9):c.2210A>G (p.Tyr737Cys)	TBC1D9 (Y737C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495134	NM_015130.3(TBC1D9):c.2077G>T (p.Val693Leu)	TBC1D9 (V693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174730	NM_015130.3(TBC1D9):c.1984G>T (p.Asp662Tyr)	TBC1D9 (D662Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784044	NM_015130.3(TBC1D9):c.1983C>T (p.Tyr661=)	TBC1D9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395780	NM_015130.3(TBC1D9):c.1510C>T (p.Arg504Cys)	TBC1D9 (R504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721416	NM_015130.3(TBC1D9):c.1497G>A (p.Gly499=)	TBC1D9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339181	NM_015130.3(TBC1D9):c.1459C>A (p.Gln487Lys)	TBC1D9 (Q487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174729	NM_015130.3(TBC1D9):c.1430C>G (p.Pro477Arg)	TBC1D9 (P477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240183	NM_015130.3(TBC1D9):c.1430C>T (p.Pro477Leu)	TBC1D9 (P477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590053	NM_015130.3(TBC1D9):c.1316C>T (p.Thr439Met)	TBC1D9 (T439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174728	NM_015130.3(TBC1D9):c.1297T>G (p.Ser433Ala)	TBC1D9 (S433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174727	NM_015130.3(TBC1D9):c.1297T>A (p.Ser433Thr)	TBC1D9 (S433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532259	NM_015130.3(TBC1D9):c.1213A>C (p.Lys405Gln)	TBC1D9 (K405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280982	NM_015130.3(TBC1D9):c.1038C>A (p.Ser346Arg)	TBC1D9 (S346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589814	NM_015130.3(TBC1D9):c.1036A>G (p.Ser346Gly)	TBC1D9 (S346G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606381	NM_015130.3(TBC1D9):c.1015A>G (p.Ser339Gly)	TBC1D9 (S339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591755	NM_015130.3(TBC1D9):c.898C>T (p.Arg300Trp)	TBC1D9 (R300W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324756	NM_015130.3(TBC1D9):c.879G>C (p.Glu293Asp)	TBC1D9 (E293D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277667	NM_015130.3(TBC1D9):c.877G>C (p.Glu293Gln)	TBC1D9 (E293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324754	NM_015130.3(TBC1D9):c.800C>G (p.Ser267Cys)	TBC1D9 (S267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334726	NM_015130.3(TBC1D9):c.590C>T (p.Ala197Val)	TBC1D9 (A197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721417	NM_015130.3(TBC1D9):c.589+8A>G	TBC1D9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2250850	NM_015130.3(TBC1D9):c.527A>G (p.Gln176Arg)	TBC1D9 (Q176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174738	NM_015130.3(TBC1D9):c.524G>A (p.Arg175His)	TBC1D9 (R175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273261	NM_015130.3(TBC1D9):c.445C>A (p.His149Asn)	TBC1D9 (H149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324757	NM_015130.3(TBC1D9):c.191G>A (p.Arg64Gln)	TBC1D9 (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266429	NM_015130.3(TBC1D9):c.175C>T (p.Arg59Trp)	TBC1D9 (R59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323636	NM_015130.3(TBC1D9):c.88A>C (p.Lys30Gln)	TBC1D9 (K30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 686467	GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3	CLGN, ELMOD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562971	GRCh37/hg19 4q31.21(chr4:141663149-143163452)x1	INPP4B, TBC1D9 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 88