TBC1D12[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 145386	GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1	ACSM6, CYP2C18 +32 more	Copy number loss	See cases	GUncertain significance
Select item 153831	GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3	ACSM6, CYP2C18 +45 more	Copy number gain	See cases	GUncertain significance
Select item 148908	GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3	ACSM6, CYP2C18 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2291156	NM_015188.2(TBC1D12):c.91A>G (p.Lys31Glu)	TBC1D12 (K31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279812	NM_015188.2(TBC1D12):c.99C>G (p.Ile33Met)	TBC1D12 (I33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324599	NM_015188.2(TBC1D12):c.142C>T (p.Pro48Ser)	TBC1D12 (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640704	NM_015188.2(TBC1D12):c.154GCTGACGAGGAGGAGGAG[1] (p.52ADEEEE[1])	TBC1D12	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3174439	NM_015188.2(TBC1D12):c.163G>C (p.Glu55Gln)	TBC1D12 (E55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590640	NM_015188.2(TBC1D12):c.178G>A (p.Glu60Lys)	LOC130004386, TBC1D12 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608230	NM_015188.2(TBC1D12):c.262T>C (p.Cys88Arg)	LOC130004386, TBC1D12 (C88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174443	NM_015188.2(TBC1D12):c.293C>T (p.Pro98Leu)	LOC130004386, TBC1D12 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518193	NM_015188.2(TBC1D12):c.293C>G (p.Pro98Arg)	LOC130004386, TBC1D12 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324604	NM_015188.2(TBC1D12):c.325T>C (p.Cys109Arg)	LOC130004386, TBC1D12 (C109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324605	NM_015188.2(TBC1D12):c.326G>T (p.Cys109Phe)	LOC130004386, TBC1D12 (C109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266156	NM_015188.2(TBC1D12):c.350A>T (p.His117Leu)	LOC130004386, TBC1D12 (H117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174444	NM_015188.2(TBC1D12):c.358G>A (p.Ala120Thr)	LOC130004386, TBC1D12 (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324597	NM_015188.2(TBC1D12):c.367G>A (p.Ala123Thr)	LOC130004386, TBC1D12 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396704	NM_015188.2(TBC1D12):c.374G>T (p.Gly125Val)	LOC130004386, TBC1D12 (G125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243296	NM_015188.2(TBC1D12):c.422T>A (p.Leu141Gln)	LOC130004386, TBC1D12 (L141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252019	NM_015188.2(TBC1D12):c.444T>A (p.Asp148Glu)	LOC130004386, TBC1D12 (D148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251222	NM_015188.2(TBC1D12):c.487T>G (p.Ser163Ala)	LOC130004386, TBC1D12 (S163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174445	NM_015188.2(TBC1D12):c.532G>A (p.Gly178Ser)	LOC130004386, TBC1D12 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355495	NM_015188.2(TBC1D12):c.563C>T (p.Pro188Leu)	LOC130004386, TBC1D12 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620193	NM_015188.2(TBC1D12):c.598C>T (p.Arg200Trp)	LOC130004386, TBC1D12 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281527	NM_015188.2(TBC1D12):c.626C>T (p.Ala209Val)	LOC130004386, TBC1D12 (A209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402673	NM_015188.2(TBC1D12):c.638A>G (p.Glu213Gly)	LOC130004386, TBC1D12 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174447	NM_015188.2(TBC1D12):c.656C>T (p.Ser219Leu)	TBC1D12 (S219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324601	NM_015188.2(TBC1D12):c.674G>C (p.Ser225Thr)	TBC1D12 (S225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174448	NM_015188.2(TBC1D12):c.678C>A (p.Ser226Arg)	TBC1D12 (S226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369243	NM_015188.2(TBC1D12):c.679T>A (p.Cys227Ser)	TBC1D12 (C227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324602	NM_015188.2(TBC1D12):c.690C>G (p.Ser230Arg)	TBC1D12 (S230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601490	NM_015188.2(TBC1D12):c.751A>G (p.Thr251Ala)	LOC130004387, TBC1D12 (T251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512113	NM_015188.2(TBC1D12):c.785C>G (p.Pro262Arg)	LOC130004387, TBC1D12 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324603	NM_015188.2(TBC1D12):c.809A>G (p.His270Arg)	LOC130004387, TBC1D12 (H270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609227	NM_015188.2(TBC1D12):c.823A>T (p.Asn275Tyr)	LOC130004387, TBC1D12 (N275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263251	NM_015188.2(TBC1D12):c.844G>A (p.Gly282Ser)	LOC130004387, TBC1D12 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174449	NM_015188.2(TBC1D12):c.890C>T (p.Pro297Leu)	LOC130004387, TBC1D12 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516919	NM_015188.2(TBC1D12):c.940C>T (p.Arg314Trp)	LOC130004387, TBC1D12 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312852	NM_015188.2(TBC1D12):c.947G>A (p.Gly316Asp)	LOC130004387, TBC1D12 (G316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324606	NM_015188.2(TBC1D12):c.955G>T (p.Ala319Ser)	LOC130004387, TBC1D12 (A319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588023	NM_015188.2(TBC1D12):c.1033A>C (p.Lys345Gln)	TBC1D12 (K345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209663	NM_015188.2(TBC1D12):c.1082A>G (p.Lys361Arg)	TBC1D12 (K361R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174435	NM_015188.2(TBC1D12):c.1149A>T (p.Arg383Ser)	TBC1D12 (R383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216584	NM_015188.2(TBC1D12):c.1150C>T (p.Arg384Cys)	TBC1D12 (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174436	NM_015188.2(TBC1D12):c.1244T>C (p.Leu415Ser)	TBC1D12 (L415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208001	NM_015188.2(TBC1D12):c.1264G>A (p.Asp422Asn)	TBC1D12 (D422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324598	NM_015188.2(TBC1D12):c.1310A>G (p.His437Arg)	TBC1D12 (H437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324600	NM_015188.2(TBC1D12):c.1337G>A (p.Arg446Gln)	TBC1D12 (R446Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174438	NM_015188.2(TBC1D12):c.1369A>G (p.Met457Val)	TBC1D12 (M457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174440	NM_015188.2(TBC1D12):c.1840C>T (p.Leu614Phe)	TBC1D12 (L614F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174441	NM_015188.2(TBC1D12):c.1967A>G (p.Tyr656Cys)	TBC1D12 (Y656C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334262	NM_015188.2(TBC1D12):c.2005T>C (p.Phe669Leu)	TBC1D12 (F669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360772	NM_015188.2(TBC1D12):c.2038C>G (p.Leu680Val)	TBC1D12 (L680V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540156	NM_015188.2(TBC1D12):c.2050G>A (p.Val684Ile)	TBC1D12 (V684I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244995	NC_000010.10:g.(?_95930917)_(96354631_?)dup	HELLS, NOC3L +2 more	Duplication	not provided	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
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 3063150	GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1808831	GRCh37/hg19 10q23.33-24.1(chr10:96155285-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1341260	GRCh37/hg19 10q23.33-24.1(chr10:96136737-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979283	GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3	CYP2C8, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815371	GRCh37/hg19 10q23.33(chr10:96018893-96371928)x3	NOC3L, TBC1D12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
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 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 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)	INA, INPP5A +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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 81