ClinVar for Gene (Select 7093) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177885	NM_012465.4(TLL2):c.970G>A (p.Val324Ile)	TLL2 (V324I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177884	NM_012465.4(TLL2):c.952C>T (p.Arg318Cys)	TLL2 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177883	NM_012465.4(TLL2):c.659G>A (p.Arg220His)	TLL2 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177882	NM_012465.4(TLL2):c.596C>T (p.Thr199Met)	TLL2 (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177881	NM_012465.4(TLL2):c.3001C>G (p.Arg1001Gly)	TLL2 (R1001G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177880	NM_012465.4(TLL2):c.2723T>C (p.Phe908Ser)	TLL2 (F908S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177879	NM_012465.4(TLL2):c.2720A>G (p.Gln907Arg)	TLL2 (Q907R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177878	NM_012465.4(TLL2):c.269C>G (p.Ala90Gly)	TLL2 (A90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177877	NM_012465.4(TLL2):c.2668G>T (p.Gly890Trp)	TLL2 (G890W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177876	NM_012465.4(TLL2):c.2630A>G (p.Gln877Arg)	TLL2 (Q877R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177875	NM_012465.4(TLL2):c.2576C>T (p.Thr859Met)	TLL2 (T859M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177874	NM_012465.4(TLL2):c.2512G>A (p.Asp838Asn)	TLL2 (D838N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177873	NM_012465.4(TLL2):c.2362G>A (p.Ala788Thr)	TLL2 (A788T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177872	NM_012465.4(TLL2):c.2360T>G (p.Leu787Arg)	TLL2 (L787R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177871	NM_012465.4(TLL2):c.2272T>C (p.Cys758Arg)	TLL2 (C758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177870	NM_012465.4(TLL2):c.2260T>C (p.Tyr754His)	TLL2 (Y754H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177869	NM_012465.4(TLL2):c.2170G>A (p.Gly724Ser)	TLL2 (G724S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177868	NM_012465.4(TLL2):c.2134G>A (p.Val712Met)	TLL2 (V712M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177867	NM_012465.4(TLL2):c.2125A>T (p.Asn709Tyr)	TLL2 (N709Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177866	NM_012465.4(TLL2):c.2101G>A (p.Glu701Lys)	TLL2 (E701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177865	NM_012465.4(TLL2):c.1970G>A (p.Arg657Gln)	TLL2 (R657Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177864	NM_012465.4(TLL2):c.1960G>A (p.Ala654Thr)	TLL2 (A654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177863	NM_012465.4(TLL2):c.1817G>A (p.Gly606Asp)	TLL2 (G606D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177862	NM_012465.4(TLL2):c.1793G>A (p.Ser598Asn)	TLL2 (S598N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177861	NM_012465.4(TLL2):c.1772G>A (p.Arg591His)	TLL2 (R591H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177859	NM_012465.4(TLL2):c.1630C>G (p.Pro544Ala)	TLL2 (P544A)	Single nucleotide variant (missense variant)	not specified	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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2685387	GRCh37/hg19 10q24.1(chr10:98122334-98184244)x1	TLL2	Copy number loss	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 2609271	NM_012465.4(TLL2):c.2893G>T (p.Gly965Cys)	TLL2 (G965C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601760	NM_012465.4(TLL2):c.843G>A (p.Met281Ile)	TLL2 (M281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601360	NM_012465.4(TLL2):c.767G>A (p.Arg256Gln)	TLL2 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591654	NM_012465.4(TLL2):c.2138A>G (p.Glu713Gly)	TLL2 (E713G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588507	NM_012465.4(TLL2):c.623G>T (p.Ser208Ile)	TLL2 (S208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553634	NM_012465.4(TLL2):c.897G>C (p.Met299Ile)	TLL2 (M299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545772	NM_012465.4(TLL2):c.2920G>A (p.Glu974Lys)	TLL2 (E974K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542562	NM_012465.4(TLL2):c.1015A>G (p.Ile339Val)	TLL2 (I339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522241	NM_012465.4(TLL2):c.1622A>G (p.Tyr541Cys)	TLL2 (Y541C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521425	NM_012465.4(TLL2):c.2086G>T (p.Gly696Cys)	TLL2 (G696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517402	NM_012465.4(TLL2):c.2587G>A (p.Gly863Ser)	TLL2 (G863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514587	NM_012465.4(TLL2):c.1543G>A (p.Asp515Asn)	TLL2 (D515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494521	NM_012465.4(TLL2):c.85C>G (p.Arg29Gly)	TLL2 (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478153	NM_012465.4(TLL2):c.2120G>A (p.Ser707Asn)	TLL2 (S707N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456614	NM_012465.4(TLL2):c.436C>T (p.Arg146Trp)	TLL2 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405410	NM_012465.4(TLL2):c.2221G>A (p.Gly741Ser)	TLL2 (G741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398329	NM_012465.4(TLL2):c.991C>T (p.Arg331Cys)	TLL2 (R331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389684	NM_012465.4(TLL2):c.1310C>T (p.Thr437Met)	TLL2 (T437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388089	NM_012465.4(TLL2):c.260C>A (p.Thr87Lys)	TLL2 (T87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387097	NM_012465.4(TLL2):c.473T>C (p.Ile158Thr)	TLL2 (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378971	NM_012465.4(TLL2):c.2962C>T (p.Arg988Cys)	TLL2 (R988C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376375	NM_012465.4(TLL2):c.2963G>A (p.Arg988His)	TLL2 (R988H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366693	NM_012465.4(TLL2):c.2525G>A (p.Ser842Asn)	TLL2 (S842N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366108	NM_012465.4(TLL2):c.2108T>G (p.Ile703Ser)	TLL2 (I703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360531	NM_012465.4(TLL2):c.875C>T (p.Thr292Ile)	TLL2 (T292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358492	NM_012465.4(TLL2):c.1292C>T (p.Pro431Leu)	TLL2 (P431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350236	NM_012465.4(TLL2):c.2740C>T (p.Pro914Ser)	TLL2 (P914S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322669	NM_012465.4(TLL2):c.2281G>A (p.Gly761Ser)	TLL2 (G761S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308980	NM_012465.4(TLL2):c.1684G>A (p.Gly562Ser)	TLL2 (G562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305730	NM_012465.4(TLL2):c.2271G>C (p.Arg757Ser)	TLL2 (R757S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304309	NM_012465.4(TLL2):c.2933C>T (p.Ser978Phe)	TLL2 (S978F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299708	NM_012465.4(TLL2):c.401G>A (p.Gly134Glu)	TLL2 (G134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286159	NM_012465.4(TLL2):c.2209G>A (p.Ala737Thr)	TLL2 (A737T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284605	NM_012465.4(TLL2):c.176C>G (p.Ala59Gly)	TLL2 (A59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266033	NM_012465.4(TLL2):c.813G>C (p.Gln271His)	TLL2 (Q271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251752	NM_012465.4(TLL2):c.2554G>A (p.Gly852Ser)	TLL2 (G852S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250733	NM_012465.4(TLL2):c.428T>A (p.Phe143Tyr)	TLL2 (F143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233810	NM_012465.4(TLL2):c.1836T>A (p.Asp612Glu)	TLL2 (D612E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224361	NM_012465.4(TLL2):c.2519C>T (p.Pro840Leu)	TLL2 (P840L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222619	NM_012465.4(TLL2):c.2645A>G (p.Gln882Arg)	TLL2 (Q882R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211932	NM_012465.4(TLL2):c.1076C>T (p.Thr359Met)	TLL2 (T359M)	Single nucleotide variant (missense variant)	not specified	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 916693	NM_012465.4(TLL2):c.923+1G>T	TLL2	Single nucleotide variant (splice donor variant)	sellar metastasis from primary bronchial carcinoid tumor	GUncertain significance
Select item 788430	NM_012465.4(TLL2):c.1096G>C (p.Gly366Arg)	TLL2 (G366R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784164	NM_012465.4(TLL2):c.2047G>A (p.Gly683Ser)	TLL2 (G683S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781942	NM_012465.4(TLL2):c.1485G>A (p.Thr495=)	TLL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778470	NM_012465.4(TLL2):c.2253C>G (p.Phe751Leu)	TLL2 (F751L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773537	NM_012465.4(TLL2):c.1337G>A (p.Arg446His)	TLL2 (R446H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714624	NM_012465.4(TLL2):c.2736C>T (p.Asn912=)	TLL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686246	GRCh37/hg19 10q24.1(chr10:98225031-98337963)x3	TLL2, TM9SF3	Copy number gain	not provided	GUncertain significance
Select item 633780	NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)	TLL2 (H537Y)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GUncertain significance
Select item 633779	NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)	TLL2 (E38Q)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GUncertain significance
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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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
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 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 96