Taldo1 Variant Search Result - Rat Genome Database

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256 records found for search term Taldo1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11600200	CV315218	single nucleotide variant	NM_006755.2(TALDO1):c.*9T>C	Deficiency of transaldolase [RCV000271720]\|not provided [RCV004718501]	benign\|likely benign	11	764854	764854	Human	1	name
405260240	CV3190290	single nucleotide variant	NM_006755.2(TALDO1):c.*7C>A	TALDO1-related disorder [RCV003894688]	likely benign	11	764852	764852	Human		name , trait , alternate_id
405287290	CV3205647	single nucleotide variant	NM_006755.2(TALDO1):c.*1C>G	TALDO1-related disorder [RCV003959779]	likely benign	11	764846	764846	Human		name , trait , alternate_id
405282438	CV3212868	single nucleotide variant	NM_006755.2(TALDO1):c.*2G>A	TALDO1-related disorder [RCV003957001]	likely benign	11	764847	764847	Human		name , trait , alternate_id
28869615	CV868782	single nucleotide variant	NM_006755.2(TALDO1):c.-6C>T	Deficiency of transaldolase [RCV001113187]	uncertain significance	11	747476	747476	Human	1	name
11663748	CV315159	single nucleotide variant	NM_006755.1(TALDO1):c.-37T>C	Deficiency of transaldolase [RCV000398992]	uncertain significance	11	747445	747445	Human	1	name
11611957	CV315163	single nucleotide variant	NM_006755.1(TALDO1):c.-30C>T	Deficiency of transaldolase [RCV000401466]	uncertain significance	11	747452	747452	Human	1	name
11604515	CV322033	single nucleotide variant	NM_006755.2(TALDO1):c.*12G>A	Deficiency of transaldolase [RCV000310388]	uncertain significance	11	764857	764857	Human	1	name
11622261	CV328155	single nucleotide variant	NM_006755.2(TALDO1):c.*30C>T	Deficiency of transaldolase [RCV000358124]	uncertain significance	11	764875	764875	Human	1	name
11613125	CV329413	single nucleotide variant	NM_006755.2(TALDO1):c.*33C>T	Deficiency of transaldolase [RCV000265768]	uncertain significance	11	764878	764878	Human	1	name
156391528	CV1990188	single nucleotide variant	NM_006755.2(TALDO1):c.97+1G>A	not provided [RCV002604713]	likely pathogenic	11	747579	747579	Human		name
597856269	CV3822116	single nucleotide variant	NM_006755.2(TALDO1):c.98-4C>G	not provided [RCV005174414]	likely benign	11	755875	755875	Human		name
598204420	CV3896654	single nucleotide variant	NM_006755.2(TALDO1):c.98-2A>G	Deficiency of transaldolase [RCV005356859]	likely pathogenic	11	755877	755877	Human	1	name
126744306	CV1020941	single nucleotide variant	NM_006755.2(TALDO1):c.836-1G>A	not provided [RCV003108371]	pathogenic\|likely pathogenic	11	764287	764287	Human		name
152067290	CV1529250	single nucleotide variant	NM_006755.2(TALDO1):c.97+17G>T	not provided [RCV002168839]	likely benign	11	747595	747595	Human		name
152168689	CV1548122	single nucleotide variant	NM_006755.2(TALDO1):c.835+7C>A	TALDO1-related disorder [RCV003978874]\|not provided [RCV002161202]	likely benign	11	763951	763951	Human	1	name , trait , alternate_id
152149406	CV1616800	single nucleotide variant	NM_006755.2(TALDO1):c.98-17G>T	not provided [RCV002201736]	likely benign	11	755862	755862	Human		name
152169205	CV1636950	single nucleotide variant	NM_006755.2(TALDO1):c.638-5T>C	TALDO1-related disorder [RCV003968751]\|not provided [RCV002182713]	likely benign	11	763742	763742	Human	1	name , trait , alternate_id
156351308	CV1883034	single nucleotide variant	NM_006755.2(TALDO1):c.221+7G>C	TALDO1-related disorder [RCV003953866]\|not provided [RCV003090997]	likely benign	11	756009	756009	Human	1	name , trait , alternate_id
156341483	CV1898850	single nucleotide variant	NM_006755.2(TALDO1):c.462-9G>A	TALDO1-related disorder [RCV003906493]\|not provided [RCV003090390]	likely benign	11	763335	763335	Human	1	name , trait , alternate_id
155940899	CV1913790	single nucleotide variant	NM_006755.2(TALDO1):c.637+9C>T	not provided [RCV002615627]	likely benign	11	763528	763528	Human		name
156406479	CV1963646	single nucleotide variant	NM_006755.2(TALDO1):c.981+5G>A	not provided [RCV002585922]	uncertain significance	11	764438	764438	Human		name
156109841	CV2177279	single nucleotide variant	NM_006755.2(TALDO1):c.221+7G>T	not provided [RCV003055047]	likely benign	11	756009	756009	Human		name
405214983	CV2925256	single nucleotide variant	NM_006755.2(TALDO1):c.981+8T>C	not provided [RCV003567642]	likely benign	11	764441	764441	Human		name
405222781	CV2976216	duplication	NM_006755.2(TALDO1):c.981+9dup	not provided [RCV003680845]	likely benign	11	764440	764441	Human		name
404977036	CV3117426	single nucleotide variant	NM_006755.2(TALDO1):c.98-10A>G	TALDO1-related disorder [RCV003984431]\|not provided [RCV003825197]	likely benign	11	755869	755869	Human	1	name , trait , alternate_id
597857435	CV3748161	single nucleotide variant	NM_006755.2(TALDO1):c.97+13C>T	not provided [RCV005066983]	likely benign	11	747591	747591	Human		name
597835555	CV3760980	single nucleotide variant	NM_006755.2(TALDO1):c.462-5C>T	not provided [RCV005085531]	likely benign	11	763339	763339	Human		name
597918271	CV3789705	single nucleotide variant	NM_006755.2(TALDO1):c.462-9G>C	not provided [RCV005129800]	likely benign	11	763335	763335	Human		name
597966114	CV3793912	single nucleotide variant	NM_006755.2(TALDO1):c.835+9C>T	not provided [RCV005140294]	likely benign	11	763953	763953	Human		name
597884372	CV3834904	single nucleotide variant	NM_006755.2(TALDO1):c.835+1G>A	not provided [RCV005178628]	likely pathogenic	11	763945	763945	Human		name
597872953	CV3859178	single nucleotide variant	NM_006755.2(TALDO1):c.461+7G>A	not provided [RCV005197767]	likely benign	11	760260	760260	Human		name
28872955	CV872136	single nucleotide variant	NM_006755.2(TALDO1):c.462-4G>A	Deficiency of transaldolase [RCV001114773]\|not provided [RCV002556249]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	763340	763340	Human	1	name
152031334	CV1548689	single nucleotide variant	NM_006755.2(TALDO1):c.461+18A>C	not provided [RCV002086341]	likely benign	11	760271	760271	Human		name
152136278	CV1580239	single nucleotide variant	NM_006755.2(TALDO1):c.462-16T>C	not provided [RCV002156180]	likely benign	11	763328	763328	Human		name
156125130	CV1888965	single nucleotide variant	NM_006755.2(TALDO1):c.638-10C>T	not provided [RCV003081603]	likely benign	11	763737	763737	Human		name
156413395	CV1969054	single nucleotide variant	NM_006755.2(TALDO1):c.982-17G>A	not provided [RCV002608824]	likely benign	11	764796	764796	Human		name
156121937	CV1969226	single nucleotide variant	NM_006755.2(TALDO1):c.462-14T>C	not provided [RCV002593164]	likely benign	11	763330	763330	Human		name
156352849	CV1974731	single nucleotide variant	NM_006755.2(TALDO1):c.982-19G>A	not provided [RCV002601949]	likely benign	11	764794	764794	Human		name
155955132	CV2077549	single nucleotide variant	NM_006755.2(TALDO1):c.981+10G>C	not provided [RCV002880721]	likely benign	11	764443	764443	Human		name
156193987	CV2083024	single nucleotide variant	NM_006755.2(TALDO1):c.461+11C>T	not provided [RCV002852229]	likely benign	11	760264	760264	Human		name
156192333	CV2162183	single nucleotide variant	NM_006755.2(TALDO1):c.221+17G>T	not provided [RCV003041689]	likely benign	11	756019	756019	Human		name
156073775	CV2165338	single nucleotide variant	NM_006755.2(TALDO1):c.329+15T>C	not provided [RCV003037649]	likely benign	11	759072	759072	Human		name
405211556	CV2920996	single nucleotide variant	NM_006755.2(TALDO1):c.461+18A>T	not provided [RCV003567144]	likely benign	11	760271	760271	Human		name
405061404	CV2929229	single nucleotide variant	NM_006755.2(TALDO1):c.637+11C>T	not provided [RCV003580437]	likely benign	11	763530	763530	Human		name
405143850	CV2946058	single nucleotide variant	NM_006755.2(TALDO1):c.638-12G>A	not provided [RCV003669498]	likely benign	11	763735	763735	Human		name
405146070	CV2959925	single nucleotide variant	NM_006755.2(TALDO1):c.330-13C>G	not provided [RCV003669705]	likely benign	11	760109	760109	Human		name
405132129	CV2962275	single nucleotide variant	NM_006755.2(TALDO1):c.221+17G>A	not provided [RCV003668269]	likely benign	11	756019	756019	Human		name
405146931	CV3023938	single nucleotide variant	NM_006755.2(TALDO1):c.981+12G>A	not provided [RCV003702930]	likely benign	11	764445	764445	Human		name
405114359	CV3115364	single nucleotide variant	NM_006755.2(TALDO1):c.835+15C>T	not provided [RCV003814046]	likely benign	11	763959	763959	Human		name
405243781	CV3164827	single nucleotide variant	NM_006755.2(TALDO1):c.836-19G>A	not provided [RCV003867908]	likely benign	11	764269	764269	Human		name
405269719	CV3201770	single nucleotide variant	NM_006755.2(TALDO1):c.462-10C>T	TALDO1-related disorder [RCV003899676]\|not provided [RCV005101592]	benign\|likely benign	11	763334	763334	Human	1	name , trait , alternate_id
11601789	CV322027	single nucleotide variant	NM_006755.2(TALDO1):c.461+14C>T	Deficiency of transaldolase [RCV000285169]\|not provided [RCV002056244]	likely benign\|uncertain significance	11	760267	760267	Human	1	name
597842503	CV3752349	deletion	NM_006755.2(TALDO1):c.462-14del	not provided [RCV005086755]	likely benign	11	763330	763330	Human		name
597832546	CV3760221	single nucleotide variant	NM_006755.2(TALDO1):c.637+20A>C	not provided [RCV005084964]	likely benign	11	763539	763539	Human		name
598217704	CV3891867	single nucleotide variant	NM_006755.2(TALDO1):c.637+96G>A	Deficiency of transaldolase [RCV005253205]	uncertain significance	11	763615	763615	Human	1	name
150506323	CV1213750	single nucleotide variant	NM_006755.2(TALDO1):c.222-144C>T	not provided [RCV001596007]	benign	11	758806	758806	Human		name
11660062	CV328076	microsatellite	NM_006755.1(TALDO1):c.-30_-19del	Deficiency of transaldolase [RCV000363645]	likely benign	11	747446	747457	Human		name
11653901	CV329321	microsatellite	NM_006755.1(TALDO1):c.-36_-34CGC[7]	Deficiency of transaldolase [RCV000313734]\|not provided [RCV004693064]	uncertain significance	11	747445	747446	Human		name
11660131	CV322032	microsatellite	NM_006755.2(TALDO1):c.982-8_982-5del	Deficiency of transaldolase [RCV000364246]\|TALDO1-related disorder [RCV004755863]\|not provided [RCV002520769]	likely benign\|uncertain significance	11	764800	764803	Human		name , trait , alternate_id
151892304	CV1480836	deletion	NM_006755.2(TALDO1):c.330-10_330-3del	not provided [RCV001943974]	uncertain significance	11	760112	760119	Human		name
152134620	CV1613417	deletion	NM_006755.2(TALDO1):c.462-21_462-6del	not provided [RCV002155979]	benign	11	763315	763330	Human		name
408366441	CV3509501	deletion	NM_006755.2(TALDO1):c.462-36_462-6del	TALDO1-related disorder [RCV004756667]	benign	11	763284	763314	Human		name , trait , alternate_id
150452284	CV1276711	microsatellite	NM_006755.2(TALDO1):c.462-29_462-15del	not provided [RCV001708500]	benign	11	763300	763314	Human		name
152999832	CV1683385	single nucleotide variant	NM_006755.2(TALDO1):c.1A>G (p.Met1Val)	See cases [RCV002252569]	uncertain significance	11	747482	747482	Human		name
156410548	CV1932419	single nucleotide variant	NM_006755.2(TALDO1):c.30G>A (p.Arg10=)	not provided [RCV002607901]	likely benign	11	747511	747511	Human		name
156308357	CV1976723	microsatellite	NM_006755.2(TALDO1):c.982-14_982-13del	not provided [RCV002578556]	likely benign	11	764797	764798	Human		name
156093462	CV2102787	single nucleotide variant	NM_006755.2(TALDO1):c.96C>T (p.His32=)	TALDO1-related disorder [RCV003943534]\|not provided [RCV002913125]	likely benign\|uncertain significance	11	747577	747577	Human	1	name , trait , alternate_id
405227261	CV3142576	single nucleotide variant	NM_006755.2(TALDO1):c.51G>A (p.Gln17=)	not provided [RCV003848115]	likely benign	11	747532	747532	Human		name
11645417	CV321981	single nucleotide variant	NM_006755.2(TALDO1):c.78C>G (p.Ala26=)	Deficiency of transaldolase [RCV000265300]	uncertain significance	11	747559	747559	Human	1	name
11653324	CV329332	single nucleotide variant	NM_006755.2(TALDO1):c.48C>T (p.Asp16=)	Deficiency of transaldolase [RCV000310145]	uncertain significance	11	747529	747529	Human	1	name
405763057	CV3327722	single nucleotide variant	NM_006755.2(TALDO1):c.8G>A (p.Ser3Asn)	Inborn genetic diseases [RCV004468966]	uncertain significance	11	747489	747489	Human	1	name
15153005	CV752966	single nucleotide variant	NM_006755.2(TALDO1):c.36G>A (p.Glu12=)	Deficiency of transaldolase [RCV001114557]\|not provided [RCV000923980]	benign\|uncertain significance	11	747517	747517	Human	1	name
15130819	CV752968	single nucleotide variant	NM_006755.2(TALDO1):c.66C>T (p.Thr22=)	not provided [RCV000920074]	likely benign	11	747547	747547	Human		name
152155935	CV1629631	single nucleotide variant	NM_006755.2(TALDO1):c.138G>A (p.Pro46=)	TALDO1-related disorder [RCV003958553]\|not provided [RCV002202649]	likely benign	11	755919	755919	Human	1	name , trait , alternate_id
152142443	CV1636413	single nucleotide variant	NM_006755.2(TALDO1):c.153C>T (p.Ala51=)	not provided [RCV002120559]	likely benign	11	755934	755934	Human		name
155931134	CV1909100	single nucleotide variant	NM_006755.2(TALDO1):c.168C>T (p.Pro56=)	TALDO1-related disorder [RCV003936580]\|not provided [RCV002614999]	benign\|likely benign	11	755949	755949	Human	1	name , trait , alternate_id
156327358	CV1980725	single nucleotide variant	NM_006755.2(TALDO1):c.22C>A (p.Arg8Ser)	not provided [RCV002630728]	uncertain significance	11	747503	747503	Human		name
156030322	CV2022628	single nucleotide variant	NM_006755.2(TALDO1):c.225A>G (p.Ser75=)	TALDO1-related disorder [RCV003898507]\|not provided [RCV002735781]	likely benign	11	758953	758953	Human	1	name , trait , alternate_id
156137109	CV2097407	single nucleotide variant	NM_006755.2(TALDO1):c.183G>A (p.Leu61=)	not provided [RCV002890163]	likely benign	11	755964	755964	Human		name
156401495	CV2207295	single nucleotide variant	NM_006755.2(TALDO1):c.16G>C (p.Val6Leu)	Inborn genetic diseases [RCV002656987]	uncertain significance	11	747497	747497	Human	1	name
405205325	CV2858641	single nucleotide variant	NM_006755.2(TALDO1):c.288A>G (p.Leu96=)	not provided [RCV003551793]	likely benign	11	759016	759016	Human		name
405213896	CV2879559	single nucleotide variant	NM_006755.2(TALDO1):c.10T>C (p.Ser4Pro)	TALDO1-related disorder [RCV003966477]\|not provided [RCV003552966]	likely benign	11	747491	747491	Human	1	name , trait , alternate_id
402510284	CV3042411	single nucleotide variant	NM_006755.2(TALDO1):c.177G>A (p.Gln59=)	not provided [RCV003715562]	likely benign	11	755958	755958	Human		name
408366549	CV3511264	single nucleotide variant	NM_006755.2(TALDO1):c.291G>A (p.Lys97=)	TALDO1-related disorder [RCV004756770]	likely benign	11	759019	759019	Human		name , trait , alternate_id
597895657	CV3744196	single nucleotide variant	NM_006755.2(TALDO1):c.208C>A (p.Arg70=)	not provided [RCV005071666]	likely benign	11	755989	755989	Human		name
597857737	CV3755762	single nucleotide variant	NM_006755.2(TALDO1):c.168C>A (p.Pro56=)	not provided [RCV005088913]	likely benign	11	755949	755949	Human		name
597937521	CV3759953	single nucleotide variant	NM_006755.2(TALDO1):c.219C>T (p.Gly73=)	not provided [RCV005076875]	uncertain significance	11	756000	756000	Human		name
597866588	CV3802859	single nucleotide variant	NM_006755.2(TALDO1):c.267G>A (p.Val89=)	not provided [RCV005147646]	likely benign	11	758995	758995	Human		name
151799468	CV1426296	single nucleotide variant	NM_006755.2(TALDO1):c.61T>C (p.Phe21Leu)	not provided [RCV001990817]	uncertain significance	11	747542	747542	Human		name
151892305	CV1480837	single nucleotide variant	NM_006755.2(TALDO1):c.330G>A (p.Arg110=)	Inborn genetic diseases [RCV004671545]\|TALDO1-related disorder [RCV003948829]\|not provided [RCV001943975]	likely benign\|uncertain significance	11	760122	760122	Human	2	name , trait , alternate_id
152043709	CV1522493	single nucleotide variant	NM_006755.2(TALDO1):c.375C>T (p.Leu125=)	not provided [RCV002088296]	likely benign	11	760167	760167	Human		name
152143341	CV1526825	single nucleotide variant	NM_006755.2(TALDO1):c.573G>A (p.Gly191=)	not provided [RCV002084457]	likely benign	11	763455	763455	Human		name
156381287	CV1873651	single nucleotide variant	NM_006755.2(TALDO1):c.744C>T (p.Ala248=)	not provided [RCV003067188]	likely benign	11	763853	763853	Human		name
156348941	CV1889599	single nucleotide variant	NM_006755.2(TALDO1):c.501G>A (p.Thr167=)	TALDO1-related disorder [RCV003898768]\|not provided [RCV003090811]	likely benign	11	763383	763383	Human	1	name , trait , alternate_id
156342203	CV1896921	single nucleotide variant	NM_006755.2(TALDO1):c.489C>T (p.His163=)	not provided [RCV003090428]	likely benign	11	763371	763371	Human		name
156436904	CV1936722	single nucleotide variant	NM_006755.2(TALDO1):c.300G>A (p.Pro100=)	not provided [RCV003106428]	likely benign	11	759028	759028	Human		name
156084645	CV1987538	single nucleotide variant	NM_006755.2(TALDO1):c.834G>A (p.Ala278=)	not provided [RCV002621656]	uncertain significance	11	763943	763943	Human		name
156350240	CV2005637	single nucleotide variant	NM_006755.2(TALDO1):c.945T>C (p.Phe315=)	not provided [RCV002650829]	likely benign	11	764397	764397	Human		name
156278525	CV2011447	single nucleotide variant	NM_006755.2(TALDO1):c.396T>C (p.Ala132=)	not provided [RCV002715220]	likely benign	11	760188	760188	Human		name
156034096	CV2047445	single nucleotide variant	NM_006755.2(TALDO1):c.948C>T (p.Ala316=)	not provided [RCV002781232]	likely benign	11	764400	764400	Human		name
156029966	CV2105458	single nucleotide variant	NM_006755.2(TALDO1):c.618T>C (p.Tyr206=)	not provided [RCV002910021]	likely benign	11	763500	763500	Human		name
156228479	CV2140810	single nucleotide variant	NM_006755.2(TALDO1):c.98C>T (p.Ala33Val)	not provided [RCV003007651]	uncertain significance	11	755879	755879	Human		name
156222821	CV2144281	single nucleotide variant	NM_006755.2(TALDO1):c.543G>A (p.Ala181=)	not provided [RCV003007449]	likely benign	11	763425	763425	Human		name
156220669	CV2168282	single nucleotide variant	NM_006755.2(TALDO1):c.63C>A (p.Phe21Leu)	not provided [RCV003042707]	uncertain significance	11	747544	747544	Human		name
156088406	CV2180771	single nucleotide variant	NM_006755.2(TALDO1):c.537C>G (p.Ala179=)	not provided [RCV003054271]	likely benign	11	763419	763419	Human		name
156286246	CV2192035	single nucleotide variant	NM_006755.2(TALDO1):c.70G>T (p.Val24Leu)	not provided [RCV003044955]	uncertain significance	11	747551	747551	Human		name
402502992	CV2869248	single nucleotide variant	NM_006755.2(TALDO1):c.372G>A (p.Arg124=)	TALDO1-related disorder [RCV003954249]\|not provided [RCV003546006]	likely benign	11	760164	760164	Human	1	name , trait , alternate_id
405111864	CV2906767	single nucleotide variant	NM_006755.2(TALDO1):c.837C>T (p.Ala279=)	not provided [RCV003557876]	likely benign	11	764289	764289	Human		name
405127264	CV2957102	single nucleotide variant	NM_006755.2(TALDO1):c.603C>A (p.Thr201=)	not provided [RCV003672077]	likely benign	11	763485	763485	Human		name
405246965	CV2966518	single nucleotide variant	NM_006755.2(TALDO1):c.507C>A (p.Leu169=)	not provided [RCV003685553]	likely benign	11	763389	763389	Human		name
405240061	CV2979918	single nucleotide variant	NM_006755.2(TALDO1):c.714C>T (p.Phe238=)	not provided [RCV003683773]	likely benign	11	763823	763823	Human		name
405010833	CV2987146	single nucleotide variant	NM_006755.2(TALDO1):c.828C>A (p.Ala276=)	not provided [RCV003693901]	likely benign	11	763937	763937	Human		name
402496272	CV3004865	single nucleotide variant	NM_006755.2(TALDO1):c.351G>C (p.Ala117=)	not provided [RCV003687836]	likely benign	11	760143	760143	Human		name
402514323	CV3039786	single nucleotide variant	NM_006755.2(TALDO1):c.708C>T (p.Ala236=)	not provided [RCV003715830]	likely benign	11	763817	763817	Human		name
405181005	CV3057257	single nucleotide variant	NM_006755.2(TALDO1):c.468C>T (p.Leu156=)	not provided [RCV003728772]	likely benign	11	763350	763350	Human		name
405190748	CV3069880	single nucleotide variant	NM_006755.2(TALDO1):c.585T>C (p.Asp195=)	not provided [RCV003729696]	likely benign	11	763467	763467	Human		name
11661547	CV315211	single nucleotide variant	NM_006755.2(TALDO1):c.402C>T (p.Ile134=)	Deficiency of transaldolase [RCV000377351]	uncertain significance	11	760194	760194	Human	1	name
11604625	CV315213	single nucleotide variant	NM_006755.2(TALDO1):c.801C>T (p.Asn267=)	Deficiency of transaldolase [RCV000311153]\|not provided [RCV000959895]	benign\|uncertain significance	11	763910	763910	Human	1	name
405228411	CV3153329	single nucleotide variant	NM_006755.2(TALDO1):c.537C>T (p.Ala179=)	not provided [RCV003848393]	likely benign	11	763419	763419	Human		name
405234088	CV3157997	single nucleotide variant	NM_006755.2(TALDO1):c.687C>T (p.Tyr229=)	not provided [RCV003865753]	likely benign	11	763796	763796	Human		name
402502075	CV3180955	single nucleotide variant	NM_006755.2(TALDO1):c.861C>T (p.Ile287=)	not provided [RCV003877972]	likely benign	11	764313	764313	Human		name
405264161	CV3189890	single nucleotide variant	NM_006755.2(TALDO1):c.981A>G (p.Thr327=)	TALDO1-related disorder [RCV003896938]	likely benign	11	764433	764433	Human		name , trait , alternate_id
405282460	CV3191022	single nucleotide variant	NM_006755.2(TALDO1):c.432A>G (p.Ser144=)	TALDO1-related disorder [RCV003921441]	likely benign	11	760224	760224	Human		name , trait , alternate_id
405275277	CV3196234	single nucleotide variant	NM_006755.2(TALDO1):c.651C>T (p.Val217=)	TALDO1-related disorder [RCV003974105]	likely benign	11	763760	763760	Human		name , trait , alternate_id
405274615	CV3208964	single nucleotide variant	NM_006755.2(TALDO1):c.61T>A (p.Phe21Ile)	TALDO1-related disorder [RCV003951738]\|not provided [RCV005064838]	uncertain significance	11	747542	747542	Human	1	name , trait , alternate_id
405283291	CV3218505	single nucleotide variant	NM_006755.2(TALDO1):c.696T>C (p.Ile232=)	TALDO1-related disorder [RCV003957294]	likely benign	11	763805	763805	Human		name , trait , alternate_id
11622830	CV329343	single nucleotide variant	NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)	Deficiency of transaldolase [RCV000364804]\|Inborn genetic diseases [RCV002520764]\|TALDO1-related disorder [RCV003967881]\|not provided [RCV001859826]	uncertain significance	11	747549	747549	Human	2	name , trait , alternate_id
11625309	CV329411	single nucleotide variant	NM_006755.2(TALDO1):c.726C>T (p.Gly242=)	Deficiency of transaldolase [RCV000397472]\|not provided [RCV002522207]	uncertain significance	11	763835	763835	Human	1	name
597845581	CV3736350	single nucleotide variant	NM_006755.2(TALDO1):c.768A>G (p.Ser256=)	not provided [RCV005059928]	likely benign	11	763877	763877	Human		name
597830891	CV3743624	single nucleotide variant	NM_006755.2(TALDO1):c.723G>A (p.Thr241=)	not provided [RCV005062441]	likely benign	11	763832	763832	Human		name
597970925	CV3750571	single nucleotide variant	NM_006755.2(TALDO1):c.390G>A (p.Lys130=)	not provided [RCV005084315]	likely benign	11	760182	760182	Human		name
597940732	CV3789059	single nucleotide variant	NM_006755.2(TALDO1):c.49C>T (p.Gln17Ter)	not provided [RCV005133522]	pathogenic	11	747530	747530	Human		name
597942470	CV3816286	single nucleotide variant	NM_006755.2(TALDO1):c.768A>C (p.Ser256=)	not provided [RCV005159347]	likely benign	11	763877	763877	Human		name
597846741	CV3828053	single nucleotide variant	NM_006755.2(TALDO1):c.738A>C (p.Ala246=)	not provided [RCV005173128]	likely benign	11	763847	763847	Human		name
597872624	CV3836088	single nucleotide variant	NM_006755.2(TALDO1):c.324C>T (p.Asp108=)	not provided [RCV005176885]	likely benign	11	759052	759052	Human		name
15156450	CV724741	single nucleotide variant	NM_006755.2(TALDO1):c.427C>T (p.Leu143=)	TALDO1-related disorder [RCV003940415]\|not provided [RCV000880630]	likely benign	11	760219	760219	Human	1	name , trait , alternate_id
15155650	CV738295	single nucleotide variant	NM_006755.2(TALDO1):c.897C>T (p.Asn299=)	TALDO1-related disorder [RCV003895494]\|not provided [RCV000902181]	likely benign	11	764349	764349	Human	1	name , trait , alternate_id
15172340	CV738296	single nucleotide variant	NM_006755.2(TALDO1):c.930C>T (p.Asp310=)	Deficiency of transaldolase [RCV001111483]\|TALDO1-related disorder [RCV003932902]\|not provided [RCV000905648]	likely benign\|uncertain significance	11	764382	764382	Human	1	name , trait , alternate_id
15195720	CV752967	single nucleotide variant	NM_006755.2(TALDO1):c.55A>C (p.Lys19Gln)	Inborn genetic diseases [RCV002540827]\|TALDO1-related disorder [RCV003913020]\|not provided [RCV000911495]	likely benign\|uncertain significance	11	747536	747536	Human	2	name , trait , alternate_id
15144409	CV752976	single nucleotide variant	NM_006755.2(TALDO1):c.327A>T (p.Ala109=)	TALDO1-related disorder [RCV003923289]\|not provided [RCV000922363]	likely benign	11	759055	759055	Human	1	name , trait , alternate_id
15127205	CV752978	single nucleotide variant	NM_006755.2(TALDO1):c.831G>A (p.Lys277=)	TALDO1-related disorder [RCV004756108]\|not provided [RCV000919456]	likely benign	11	763940	763940	Human	1	name , trait , alternate_id
28910404	CV868799	single nucleotide variant	NM_006755.2(TALDO1):c.480C>T (p.His160=)	Deficiency of transaldolase [RCV001109143]\|not provided [RCV002555063]	uncertain significance	11	763362	763362	Human	1	name
34888530	CV904263	single nucleotide variant	NM_006755.2(TALDO1):c.699C>G (p.Val233=)	Deficiency of transaldolase [RCV001171519]	pathogenic	11	763808	763808	Human		name
126744302	CV1020940	indel	NM_006755.2(TALDO1):c.330-10_330delinsAGA	Deficiency of transaldolase [RCV001336998]	uncertain significance	11	760112	760122	Human		name
9691396	CV172300	deletion	NM_006755.2(TALDO1):c.793del (p.Gln265fs)	Deficiency of transaldolase [RCV000150042]\|not provided [RCV001850032]	pathogenic\|not provided	11	763902	763902	Human	1	name
10401447	CV205196	duplication	NM_006755.2(TALDO1):c.516dup (p.Ala173fs)	Deficiency of transaldolase [RCV000190629]	pathogenic	11	763397	763398	Human	1	name
156231453	CV2112133	single nucleotide variant	NM_006755.2(TALDO1):c.191A>C (p.Glu64Ala)	not provided [RCV002918951]	uncertain significance	11	755972	755972	Human		name
156194505	CV2113578	single nucleotide variant	NM_006755.2(TALDO1):c.208C>T (p.Arg70Trp)	Inborn genetic diseases [RCV002933801]\|not provided [RCV002957164]	uncertain significance	11	755989	755989	Human	1	name
156139444	CV2129383	single nucleotide variant	NM_006755.2(TALDO1):c.245A>T (p.Asn82Ile)	not provided [RCV002954172]	uncertain significance	11	758973	758973	Human		name
156087122	CV2241298	single nucleotide variant	NM_006755.2(TALDO1):c.209G>A (p.Arg70Gln)	Inborn genetic diseases [RCV002738256]	uncertain significance	11	755990	755990	Human	1	name
156151155	CV2245111	single nucleotide variant	NM_006755.2(TALDO1):c.295A>G (p.Ile99Val)	Inborn genetic diseases [RCV002786906]	uncertain significance	11	759023	759023	Human	1	name
401961831	CV2844153	single nucleotide variant	NM_006755.2(TALDO1):c.218G>A (p.Gly73Asp)	not provided [RCV003481994]	uncertain significance	11	755999	755999	Human		name
402520336	CV2943931	single nucleotide variant	NM_006755.2(TALDO1):c.166C>T (p.Pro56Ser)	not provided [RCV003663256]	uncertain significance	11	755947	755947	Human		name
405262117	CV3194341	single nucleotide variant	NM_006755.2(TALDO1):c.1014G>A (p.Ter338=)	TALDO1-related disorder [RCV003896373]	likely benign	11	764845	764845	Human		name , trait , alternate_id
405282190	CV3216171	single nucleotide variant	NM_006755.2(TALDO1):c.1005T>C (p.Asn335=)	TALDO1-related disorder [RCV003956703]	likely benign	11	764836	764836	Human		name , trait , alternate_id
11624235	CV328136	single nucleotide variant	NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)	Deficiency of transaldolase [RCV000383278]\|TALDO1-related disorder [RCV003910128]\|not provided [RCV000994535]	likely benign\|uncertain significance	11	755962	755962	Human	1	name , trait , alternate_id
11613920	CV329394	single nucleotide variant	NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)	Deficiency of transaldolase [RCV000272579]\|Inborn genetic diseases [RCV002520766]\|TALDO1-related disorder [RCV003957585]\|not provided [RCV002056243]	benign\|uncertain significance	11	755978	755978	Human	2	name , trait , alternate_id
11619046	CV329396	single nucleotide variant	NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)	Deficiency of transaldolase [RCV000320657]	uncertain significance	11	759021	759021	Human	1	name
405763031	CV3327718	single nucleotide variant	NM_006755.2(TALDO1):c.169G>A (p.Ala57Thr)	Inborn genetic diseases [RCV004468962]	uncertain significance	11	755950	755950	Human	1	name
405763039	CV3327719	single nucleotide variant	NM_006755.2(TALDO1):c.185T>C (p.Val62Ala)	Inborn genetic diseases [RCV004468963]	uncertain significance	11	755966	755966	Human	1	name
405763045	CV3327720	single nucleotide variant	NM_006755.2(TALDO1):c.268T>G (p.Leu90Val)	Inborn genetic diseases [RCV004468964]	uncertain significance	11	758996	758996	Human	1	name
407530488	CV3475152	single nucleotide variant	NM_006755.2(TALDO1):c.163A>T (p.Met55Leu)	Inborn genetic diseases [RCV004681935]	uncertain significance	11	755944	755944	Human	1	name
407506619	CV3475153	single nucleotide variant	NM_006755.2(TALDO1):c.215T>C (p.Leu72Pro)	Inborn genetic diseases [RCV004671178]	uncertain significance	11	755996	755996	Human	1	name
596932554	CV3539176	single nucleotide variant	NM_006755.2(TALDO1):c.263T>C (p.Phe88Ser)	not provided [RCV004793302]	uncertain significance	11	758991	758991	Human		name
597655457	CV3552161	single nucleotide variant	NM_006755.2(TALDO1):c.158C>G (p.Ala53Gly)	Deficiency of transaldolase [RCV004821019]	uncertain significance	11	755939	755939	Human	1	name
597957213	CV3814292	single nucleotide variant	NM_006755.2(TALDO1):c.289A>T (p.Lys97Ter)	not provided [RCV005162623]	pathogenic	11	759017	759017	Human		name
598264826	CV3920025	single nucleotide variant	NM_006755.2(TALDO1):c.152C>T (p.Ala51Val)	Inborn genetic diseases [RCV005280847]	uncertain significance	11	755933	755933	Human	1	name
126741133	CV1017523	single nucleotide variant	NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)	Deficiency of transaldolase [RCV001329616]	uncertain significance	11	764340	764340	Human	1	name
126741139	CV1017524	single nucleotide variant	NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)	Deficiency of transaldolase [RCV001329617]\|Inborn genetic diseases [RCV005278827]	uncertain significance	11	764813	764813	Human	2	name
151784657	CV1344189	single nucleotide variant	NM_006755.2(TALDO1):c.400A>G (p.Ile134Val)	not provided [RCV002046485]	uncertain significance	11	760192	760192	Human		name
151803500	CV1352568	single nucleotide variant	NM_006755.2(TALDO1):c.457G>A (p.Gly153Arg)	not provided [RCV001899284]	uncertain significance	11	760249	760249	Human		name
151746085	CV1361144	single nucleotide variant	NM_006755.2(TALDO1):c.562C>A (p.Pro188Thr)	not provided [RCV001871531]	uncertain significance	11	763444	763444	Human		name
151746219	CV1365819	single nucleotide variant	NM_006755.2(TALDO1):c.938G>A (p.Arg313His)	not provided [RCV001893800]	uncertain significance	11	764390	764390	Human		name
151717878	CV1368632	single nucleotide variant	NM_006755.2(TALDO1):c.409G>A (p.Asp137Asn)	Inborn genetic diseases [RCV002562212]\|not provided [RCV001965497]	uncertain significance	11	760201	760201	Human	1	name
151777393	CV1381932	single nucleotide variant	NM_006755.2(TALDO1):c.542C>T (p.Ala181Val)	not provided [RCV001950740]	uncertain significance	11	763424	763424	Human		name
151854460	CV1390889	single nucleotide variant	NM_006755.2(TALDO1):c.683G>A (p.Ser228Asn)	not provided [RCV001958418]	uncertain significance	11	763792	763792	Human		name
151794160	CV1394902	single nucleotide variant	NM_006755.2(TALDO1):c.749G>A (p.Cys250Tyr)	Inborn genetic diseases [RCV004681367]\|not provided [RCV001973327]	uncertain significance	11	763858	763858	Human	1	name
151774003	CV1427883	single nucleotide variant	NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys)	Deficiency of transaldolase [RCV003136276]\|not provided [RCV001915252]	uncertain significance	11	764323	764323	Human	1	name
151777765	CV1436718	single nucleotide variant	NM_006755.2(TALDO1):c.494A>G (p.Asn165Ser)	Inborn genetic diseases [RCV004042353]\|not provided [RCV001971792]	uncertain significance	11	763376	763376	Human	1	name
151847687	CV1445505	single nucleotide variant	NM_006755.2(TALDO1):c.314C>T (p.Thr105Ile)	Inborn genetic diseases [RCV002579568]\|not provided [RCV001995553]	uncertain significance	11	759042	759042	Human	1	name
151759920	CV1448303	single nucleotide variant	NM_006755.2(TALDO1):c.477G>C (p.Gln159His)	TALDO1-related disorder [RCV004756323]\|not provided [RCV001949016]	uncertain significance	11	763359	763359	Human	1	name , trait , alternate_id
151872296	CV1487852	single nucleotide variant	NM_006755.2(TALDO1):c.469G>A (p.Glu157Lys)	not provided [RCV001981459]	uncertain significance	11	763351	763351	Human		name
152130521	CV1523427	single nucleotide variant	NM_006755.2(TALDO1):c.347A>T (p.Asp116Val)	TALDO1-related disorder [RCV003913743]\|not provided [RCV002136864]	benign\|likely benign	11	760139	760139	Human	1	name , trait , alternate_id
153303828	CV1686481	single nucleotide variant	NM_006755.2(TALDO1):c.413G>A (p.Arg138Gln)	not provided [RCV002261915]	uncertain significance	11	760205	760205	Human		name
156418370	CV1911016	single nucleotide variant	NM_006755.2(TALDO1):c.379G>A (p.Glu127Lys)	not provided [RCV002611556]	uncertain significance	11	760171	760171	Human		name
156025695	CV1917600	single nucleotide variant	NM_006755.2(TALDO1):c.481G>A (p.Gly161Ser)	not provided [RCV002619619]	uncertain significance	11	763363	763363	Human		name
156376288	CV1917657	single nucleotide variant	NM_006755.2(TALDO1):c.802G>A (p.Ala268Thr)	not provided [RCV002603609]	uncertain significance	11	763911	763911	Human		name
156216027	CV1931136	single nucleotide variant	NM_006755.2(TALDO1):c.370C>T (p.Arg124Trp)	not provided [RCV002644202]	uncertain significance	11	760162	760162	Human		name
156410605	CV1932453	single nucleotide variant	NM_006755.2(TALDO1):c.486C>G (p.Ile162Met)	not provided [RCV002607920]	uncertain significance	11	763368	763368	Human		name
156396679	CV1959060	single nucleotide variant	NM_006755.2(TALDO1):c.970C>T (p.Arg324Trp)	not provided [RCV002584426]	uncertain significance	11	764422	764422	Human		name
156280040	CV1964346	single nucleotide variant	NM_006755.2(TALDO1):c.949G>A (p.Ala317Thr)	Inborn genetic diseases [RCV002577450]\|not provided [RCV002577449]	uncertain significance	11	764401	764401	Human	1	name
156311141	CV1973387	single nucleotide variant	NM_006755.2(TALDO1):c.727G>A (p.Glu243Lys)	not provided [RCV002578700]	uncertain significance	11	763836	763836	Human		name
156352410	CV1978559	single nucleotide variant	NM_006755.2(TALDO1):c.385T>C (p.Tyr129His)	Inborn genetic diseases [RCV005288776]\|not provided [RCV002601920]	uncertain significance	11	760177	760177	Human	1	name
155985755	CV1979581	single nucleotide variant	NM_006755.2(TALDO1):c.506T>C (p.Leu169Pro)	not provided [RCV002617797]	uncertain significance	11	763388	763388	Human		name
156013423	CV1986128	single nucleotide variant	NM_006755.2(TALDO1):c.782G>A (p.Gly261Glu)	not provided [RCV002636341]	uncertain significance	11	763891	763891	Human		name
155989405	CV1990413	single nucleotide variant	NM_006755.2(TALDO1):c.617A>G (p.Tyr206Cys)	Inborn genetic diseases [RCV005288778]\|not provided [RCV002617954]	uncertain significance	11	763499	763499	Human	1	name
156415219	CV1990876	single nucleotide variant	NM_006755.2(TALDO1):c.898G>A (p.Glu300Lys)	not provided [RCV002609566]	uncertain significance	11	764350	764350	Human		name
156283283	CV2001527	single nucleotide variant	NM_006755.2(TALDO1):c.722C>T (p.Thr241Met)	not provided [RCV002646917]	uncertain significance	11	763831	763831	Human		name
156123540	CV2039983	single nucleotide variant	NM_006755.2(TALDO1):c.622C>T (p.Pro208Ser)	not provided [RCV002785885]	uncertain significance	11	763504	763504	Human		name
156018429	CV2046835	single nucleotide variant	NM_006755.2(TALDO1):c.850C>A (p.Leu284Met)	Inborn genetic diseases [RCV004673720]\|not provided [RCV002780526]	uncertain significance	11	764302	764302	Human	1	name
156117298	CV2086562	single nucleotide variant	NM_006755.2(TALDO1):c.401T>G (p.Ile134Ser)	not provided [RCV002871126]	uncertain significance	11	760193	760193	Human		name
155984619	CV2101368	single nucleotide variant	NM_006755.2(TALDO1):c.930C>G (p.Asp310Glu)	not provided [RCV002882096]	uncertain significance	11	764382	764382	Human		name
156169323	CV2133504	single nucleotide variant	NM_006755.2(TALDO1):c.986G>C (p.Arg329Pro)	not provided [RCV003005337]	uncertain significance	11	764817	764817	Human		name
155975275	CV2231292	single nucleotide variant	NM_006755.2(TALDO1):c.518C>T (p.Ala173Val)	Inborn genetic diseases [RCV002731975]	uncertain significance	11	763400	763400	Human	1	name
156258746	CV2277768	single nucleotide variant	NM_006755.2(TALDO1):c.465G>C (p.Glu155Asp)	Inborn genetic diseases [RCV002855281]	uncertain significance	11	763347	763347	Human	1	name
156440054	CV2401738	single nucleotide variant	NM_006755.2(TALDO1):c.715C>T (p.Arg239Cys)	Inborn genetic diseases [RCV005281351]\|not provided [RCV003110026]	uncertain significance	11	763824	763824	Human	1	name
243058504	CV2413938	single nucleotide variant	NM_006755.2(TALDO1):c.568G>T (p.Val190Phe)	Deficiency of transaldolase [RCV003140857]	uncertain significance	11	763450	763450	Human	1	name
401723195	CV2674741	single nucleotide variant	NM_006755.2(TALDO1):c.692C>G (p.Thr231Ser)	Inborn genetic diseases [RCV003245092]	uncertain significance	11	763801	763801	Human	1	name
401797032	CV2739982	single nucleotide variant	NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe)	Deficiency of transaldolase [RCV003319944]	likely pathogenic	11	763394	763394	Human	1	name
401869180	CV2766926	single nucleotide variant	NM_006755.2(TALDO1):c.458G>A (p.Gly153Glu)	Inborn genetic diseases [RCV003345677]	uncertain significance	11	760250	760250	Human	1	name
401907233	CV2802280	single nucleotide variant	NM_006755.2(TALDO1):c.931G>A (p.Gly311Arg)	TALDO1-related disorder [RCV003422498]	likely pathogenic	11	764383	764383	Human		name , trait , alternate_id
401961832	CV2844154	single nucleotide variant	NM_006755.2(TALDO1):c.830A>C (p.Lys277Thr)	Inborn genetic diseases [RCV005281403]\|not provided [RCV003481995]	uncertain significance	11	763939	763939	Human	1	name
405147932	CV3141911	single nucleotide variant	NM_006755.2(TALDO1):c.812T>C (p.Val271Ala)	not provided [RCV003839833]	uncertain significance	11	763921	763921	Human		name
11609678	CV315212	single nucleotide variant	NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)	Deficiency of transaldolase [RCV000371441]\|Inborn genetic diseases [RCV002520767]\|TALDO1-related disorder [RCV004755862]\|not provided [RCV002056245]	likely benign\|uncertain significance	11	763358	763358	Human	2	name , trait , alternate_id
11604201	CV315214	single nucleotide variant	NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)	Deficiency of transaldolase [RCV000307213]	uncertain significance	11	764423	764423	Human	1	name
405264527	CV3190029	single nucleotide variant	NM_006755.2(TALDO1):c.656A>G (p.Lys219Arg)	TALDO1-related disorder [RCV003897068]\|not provided [RCV005101571]	uncertain significance	11	763765	763765	Human	1	name , trait , alternate_id
11608163	CV322030	single nucleotide variant	NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)	Deficiency of transaldolase [RCV000351493]	uncertain significance	11	764404	764404	Human	1	name
11620923	CV328148	single nucleotide variant	NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)	Deficiency of transaldolase [RCV000342429]\|not provided [RCV001859827]	uncertain significance	11	763357	763357	Human	1	name
11625082	CV328154	single nucleotide variant	NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg)	Deficiency of transaldolase [RCV000394136]\|not provided [RCV000417884]	benign\|likely benign	11	764414	764414	Human	1	name
11648002	CV329408	single nucleotide variant	NM_006755.2(TALDO1):c.488A>G (p.His163Arg)	Deficiency of transaldolase [RCV000279454]	uncertain significance	11	763370	763370	Human	1	name
11620419	CV329409	single nucleotide variant	NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)	Deficiency of transaldolase [RCV000336858]\|not provided [RCV002520768]	uncertain significance	11	763771	763771	Human	1	name
405763051	CV3327721	single nucleotide variant	NM_006755.2(TALDO1):c.565T>C (p.Phe189Leu)	Inborn genetic diseases [RCV004468965]	uncertain significance	11	763447	763447	Human	1	name
408383138	CV3504817	single nucleotide variant	NM_006755.2(TALDO1):c.671A>G (p.Tyr224Cys)	TALDO1-related disorder [RCV004730444]	uncertain significance	11	763780	763780	Human		name , trait , alternate_id
408366383	CV3508270	single nucleotide variant	NM_006755.2(TALDO1):c.798C>G (p.Asp266Glu)	TALDO1-related disorder [RCV004756617]	uncertain significance	11	763907	763907	Human		name , trait , alternate_id
408393835	CV3526236	single nucleotide variant	NM_006755.2(TALDO1):c.732C>G (p.Ile244Met)	Deficiency of transaldolase [RCV004771668]	uncertain significance	11	763841	763841	Human	1	name
596932556	CV3539178	single nucleotide variant	NM_006755.2(TALDO1):c.740T>C (p.Leu247Pro)	not provided [RCV004793304]	uncertain significance	11	763849	763849	Human		name
597634103	CV3612236	single nucleotide variant	NM_006755.2(TALDO1):c.479A>T (p.His160Leu)	Inborn genetic diseases [RCV004969271]	uncertain significance	11	763361	763361	Human	1	name
597634106	CV3612237	single nucleotide variant	NM_006755.2(TALDO1):c.916G>A (p.Glu306Lys)	Inborn genetic diseases [RCV004969272]	uncertain significance	11	764368	764368	Human	1	name
597634109	CV3612238	single nucleotide variant	NM_006755.2(TALDO1):c.986G>A (p.Arg329Gln)	Inborn genetic diseases [RCV004969273]	likely benign	11	764817	764817	Human	1	name
597634113	CV3612239	single nucleotide variant	NM_006755.2(TALDO1):c.937C>T (p.Arg313Cys)	Inborn genetic diseases [RCV004969274]	uncertain significance	11	764389	764389	Human	1	name
597634116	CV3612241	single nucleotide variant	NM_006755.2(TALDO1):c.701T>G (p.Met234Arg)	Inborn genetic diseases [RCV004969275]	uncertain significance	11	763810	763810	Human	1	name
12849865	CV372447	single nucleotide variant	NM_006755.2(TALDO1):c.586T>C (p.Trp196Arg)	not provided [RCV000437516]	likely pathogenic	11	763468	763468	Human		name
12849533	CV372716	single nucleotide variant	NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)	Deficiency of transaldolase [RCV000679866]\|not provided [RCV000431498]	pathogenic\|uncertain significance	11	763456	763456	Human	1	name
597897393	CV3744613	single nucleotide variant	NM_006755.2(TALDO1):c.304C>T (p.Arg102Ter)	not provided [RCV005071892]	pathogenic	11	759032	759032	Human		name
598182608	CV3920026	single nucleotide variant	NM_006755.2(TALDO1):c.821T>G (p.Leu274Arg)	Inborn genetic diseases [RCV005286968]	uncertain significance	11	763930	763930	Human	1	name
12894594	CV408474	single nucleotide variant	NM_006755.2(TALDO1):c.575G>A (p.Arg192His)	not provided [RCV000483416]	pathogenic\|likely pathogenic\|uncertain significance	11	763457	763457	Human		name
12902316	CV408475	single nucleotide variant	NM_006755.2(TALDO1):c.713T>C (p.Phe238Ser)	not provided [RCV000486804]	uncertain significance	11	763822	763822	Human		name
13612283	CV514013	single nucleotide variant	NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)	Cataract [RCV000626899]\|not provided [RCV001860479]	uncertain significance	11	759056	759056	Human	2	name
14399438	CV614168	single nucleotide variant	NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)	Deficiency of transaldolase [RCV000767871]	pathogenic	11	764383	764383	Human	1	name
14746843	CV672084	single nucleotide variant	NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)	Deficiency of transaldolase [RCV000845092]	not provided	11	760201	760201	Human		name
21068770	CV788858	single nucleotide variant	NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)	Deficiency of transaldolase [RCV000984949]\|not provided [RCV001869326]	uncertain significance	11	763486	763486	Human	1	name
38460524	CV800955	single nucleotide variant	NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly)	Deficiency of transaldolase [RCV001250884]	pathogenic	11	763824	763824	Human	1	name
25317490	CV805709	duplication	NM_006755.2(TALDO1):c.750dup (p.Asp251Ter)	not provided [RCV001008050]	likely pathogenic	11	763858	763859	Human		name
28872952	CV868798	single nucleotide variant	NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)	Deficiency of transaldolase [RCV001114772]	uncertain significance	11	760148	760148	Human	1	name
28910405	CV868800	single nucleotide variant	NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)	Deficiency of transaldolase [RCV001109144]\|not provided [RCV001856457]	uncertain significance	11	763815	763815	Human	1	name
28910407	CV868801	single nucleotide variant	NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)	Deficiency of transaldolase [RCV001109145]\|not provided [RCV002558095]	uncertain significance	11	763893	763893	Human	1	name
28912007	CV868802	single nucleotide variant	NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)	Deficiency of transaldolase [RCV001111484]	uncertain significance	11	764408	764408	Human	1	name
38465308	CV961788	single nucleotide variant	NM_006755.2(TALDO1):c.884G>A (p.Arg295His)	Deficiency of transaldolase [RCV001250101]	uncertain significance	11	764336	764336	Human	1	name
38597542	CV963068	single nucleotide variant	NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)	Deficiency of transaldolase [RCV001171519]	pathogenic	11	763778	763778	Human	1	name
156376307	CV2024740	deletion	NM_006755.2(TALDO1):c.643_644del (p.Lys215fs)	Deficiency of transaldolase [RCV003314044]\|not provided [RCV002721948]	pathogenic	11	763751	763752	Human	1	name
401855085	CV2752751	deletion	NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)	Deficiency of transaldolase [RCV003337805]	likely pathogenic	11	763804	763805	Human	1	name
405290338	CV3207474	microsatellite	NM_006755.2(TALDO1):c.646_647del (p.Ser216fs)	TALDO1-related disorder [RCV003927056]	likely pathogenic	11	763753	763754	Human		name , trait , alternate_id
156204170	CV1877947	deletion	NM_006755.2(TALDO1):c.895_897del (p.Asn299del)	not provided [RCV003058270]	uncertain significance	11	764345	764347	Human		name
8559994	CV22601	deletion	NM_006755.2(TALDO1):c.512_514del (p.Ser171del)	Deficiency of transaldolase [RCV000007998]	pathogenic	11	763392	763394	Human	1	name
156445972	CV1950996	indel	NM_006755.2(TALDO1):c.802_803delinsAA (p.Ala268Asn)	not provided [RCV003116935]	uncertain significance	11	763911	763912	Human		name

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