Tox Variant Search Result - Rat Genome Database

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628 records found for search term Tox

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8650475	CV127050	single nucleotide variant	NM_014729.2(TOX):c.103-4942T>A	Lung cancer [RCV000107537]	uncertain significance	8	58964950	58964950	Human		name
15192008	CV777763	microsatellite	NM_014729.3(TOX):c.412-44TATT[8]	not provided [RCV000954942]	benign	8	58851810	58851817	Human		name
156074529	CV2264047	single nucleotide variant	NM_014729.3(TOX):c.5A>C (p.Asp2Ala)	not specified [RCV004138063]	uncertain significance	8	59118983	59118983	Human		name
405758583	CV3347113	single nucleotide variant	NM_014729.3(TOX):c.7G>A (p.Val3Ile)	not specified [RCV004468213]	uncertain significance	8	59118981	59118981	Human		name
405758587	CV3347114	single nucleotide variant	NM_014729.3(TOX):c.7G>C (p.Val3Leu)	not specified [RCV004468214]	uncertain significance	8	59118981	59118981	Human		name
402495954	CV2883710	single nucleotide variant	NM_014729.3(TOX):c.678C>T (p.Gly226=)	not provided [RCV003573416]	likely benign	8	58851539	58851539	Human		name
405758578	CV3347112	single nucleotide variant	NM_014729.3(TOX):c.73C>G (p.Pro25Ala)	not specified [RCV004468212]	uncertain significance	8	59118915	59118915	Human		name
597787236	CV3611072	single nucleotide variant	NM_014729.3(TOX):c.55C>A (p.Pro19Thr)	not specified [RCV004875550]	uncertain significance	8	59118933	59118933	Human		name
597787240	CV3611073	single nucleotide variant	NM_014729.3(TOX):c.56C>T (p.Pro19Leu)	not specified [RCV004875551]	uncertain significance	8	59118932	59118932	Human		name
329373198	CV2439316	single nucleotide variant	NM_014729.3(TOX):c.152A>G (p.Tyr51Cys)	not specified [RCV004249625]	uncertain significance	8	58959959	58959959	Human		name
329377249	CV2442678	single nucleotide variant	NM_014729.3(TOX):c.125T>C (p.Met42Thr)	not specified [RCV004265027]	uncertain significance	8	58959986	58959986	Human		name
405758559	CV3347108	single nucleotide variant	NM_014729.3(TOX):c.230C>T (p.Ser77Phe)	not specified [RCV004468208]	uncertain significance	8	58939483	58939483	Human		name
405758565	CV3347109	single nucleotide variant	NM_014729.3(TOX):c.271T>C (p.Ser91Pro)	not specified [RCV004468209]	likely benign	8	58939442	58939442	Human		name
598188562	CV3928181	single nucleotide variant	NM_014729.3(TOX):c.265G>A (p.Val89Ile)	not specified [RCV005287955]	uncertain significance	8	58939448	58939448	Human		name
156110480	CV2261620	single nucleotide variant	NM_014729.3(TOX):c.522G>A (p.Met174Ile)	not specified [RCV004125946]	uncertain significance	8	58851695	58851695	Human		name
405758568	CV3347110	single nucleotide variant	NM_014729.3(TOX):c.311G>A (p.Gly104Asp)	not specified [RCV004468210]	uncertain significance	8	58939402	58939402	Human		name
405758573	CV3347111	single nucleotide variant	NM_014729.3(TOX):c.527A>G (p.His176Arg)	not specified [RCV004468211]	uncertain significance	8	58851690	58851690	Human		name
407521080	CV3486845	single nucleotide variant	NM_014729.3(TOX):c.715C>T (p.Pro239Ser)	not specified [RCV004677169]	uncertain significance	8	58838290	58838290	Human		name
597787224	CV3611069	single nucleotide variant	NM_014729.3(TOX):c.727A>C (p.Met243Leu)	not specified [RCV004875547]	uncertain significance	8	58838278	58838278	Human		name
597787251	CV3611076	single nucleotide variant	NM_014729.3(TOX):c.609C>A (p.Asn203Lys)	not specified [RCV004875554]	uncertain significance	8	58851608	58851608	Human		name
597787259	CV3611078	single nucleotide variant	NM_014729.3(TOX):c.817C>T (p.Arg273Cys)	not specified [RCV004875556]	uncertain significance	8	58838188	58838188	Human		name
597787263	CV3611079	single nucleotide variant	NM_014729.3(TOX):c.713G>A (p.Arg238Gln)	not specified [RCV004875557]	uncertain significance	8	58838292	58838292	Human		name
598254705	CV3928183	single nucleotide variant	NM_014729.3(TOX):c.557A>G (p.Gln186Arg)	not specified [RCV005278486]	uncertain significance	8	58851660	58851660	Human		name
598188590	CV3928185	single nucleotide variant	NM_014729.3(TOX):c.574G>T (p.Gly192Cys)	not specified [RCV005287958]	uncertain significance	8	58851643	58851643	Human		name
156200198	CV2237676	single nucleotide variant	NM_014729.3(TOX):c.1553A>G (p.Gln518Arg)	not specified [RCV004106601]	uncertain significance	8	58807775	58807775	Human		name
156107366	CV2254291	single nucleotide variant	NM_014729.3(TOX):c.1027G>A (p.Val343Met)	not specified [RCV004129958]	uncertain significance	8	58815703	58815703	Human		name
156215967	CV2257621	single nucleotide variant	NM_014729.3(TOX):c.1505C>A (p.Pro502Gln)	not specified [RCV004127446]	uncertain significance	8	58808157	58808157	Human		name
156013248	CV2300413	single nucleotide variant	NM_014729.3(TOX):c.1289A>T (p.His430Leu)	not specified [RCV004153615]	uncertain significance	8	58815441	58815441	Human		name
155968403	CV2337839	single nucleotide variant	NM_014729.3(TOX):c.1100C>T (p.Ser367Leu)	not specified [RCV004183850]	uncertain significance	8	58815630	58815630	Human		name
156336338	CV2360720	single nucleotide variant	NM_014729.3(TOX):c.1207C>A (p.Gln403Lys)	not specified [RCV004213508]	uncertain significance	8	58815523	58815523	Human		name
156040462	CV2384359	single nucleotide variant	NM_014729.3(TOX):c.1284C>A (p.His428Gln)	not specified [RCV004227736]	uncertain significance	8	58815446	58815446	Human		name
155996869	CV2393244	single nucleotide variant	NM_014729.3(TOX):c.1142T>C (p.Met381Thr)	not specified [RCV004226713]	uncertain significance	8	58815588	58815588	Human		name
329384377	CV2435044	single nucleotide variant	NM_014729.3(TOX):c.1199C>T (p.Pro400Leu)	not specified [RCV004252695]	uncertain significance	8	58815531	58815531	Human		name
405758531	CV3347103	single nucleotide variant	NM_014729.3(TOX):c.1136C>T (p.Pro379Leu)	not specified [RCV004468203]	uncertain significance	8	58815594	58815594	Human		name
405758539	CV3347104	single nucleotide variant	NM_014729.3(TOX):c.1166A>G (p.His389Arg)	not specified [RCV004468204]	uncertain significance	8	58815564	58815564	Human		name
405758542	CV3347105	single nucleotide variant	NM_014729.3(TOX):c.1460C>G (p.Thr487Ser)	not specified [RCV004468205]	uncertain significance	8	58808202	58808202	Human		name
405758549	CV3347106	single nucleotide variant	NM_014729.3(TOX):c.1502C>T (p.Pro501Leu)	not specified [RCV004468206]	uncertain significance	8	58808160	58808160	Human		name
405758555	CV3347107	single nucleotide variant	NM_014729.3(TOX):c.1505C>G (p.Pro502Arg)	not specified [RCV004468207]	uncertain significance	8	58808157	58808157	Human		name
407521077	CV3486843	single nucleotide variant	NM_014729.3(TOX):c.1067C>T (p.Pro356Leu)	not specified [RCV004677168]	uncertain significance	8	58815663	58815663	Human		name
407461143	CV3486844	single nucleotide variant	NM_014729.3(TOX):c.1127A>G (p.His376Arg)	not specified [RCV004687578]	uncertain significance	8	58815603	58815603	Human		name
597787228	CV3611070	single nucleotide variant	NM_014729.3(TOX):c.1079A>G (p.His360Arg)	not specified [RCV004875548]	uncertain significance	8	58815651	58815651	Human		name
597787231	CV3611071	single nucleotide variant	NM_014729.3(TOX):c.1138G>A (p.Gly380Arg)	not specified [RCV004875549]	uncertain significance	8	58815592	58815592	Human		name
597787243	CV3611074	single nucleotide variant	NM_014729.3(TOX):c.1453G>A (p.Val485Ile)	not specified [RCV004875552]	uncertain significance	8	58808209	58808209	Human		name
597787255	CV3611077	single nucleotide variant	NM_014729.3(TOX):c.1475A>G (p.Tyr492Cys)	not specified [RCV004875555]	uncertain significance	8	58808187	58808187	Human		name
598188581	CV3928184	single nucleotide variant	NM_014729.3(TOX):c.1400C>G (p.Thr467Ser)	not specified [RCV005287957]	uncertain significance	8	58808262	58808262	Human		name
407424927	CV3410867	indel	NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)	Iron-refractory iron deficiency anemia [RCV004586511]	uncertain significance	8	58838100	58838101	Human		name
11087714	CV227797	single nucleotide variant	NC_000018.9:g.57882787C>A	amisulpride response - Toxicity/ADR [RCV000211314]\|aripiprazole response - Toxicity/ADR [RCV000211401]\|clozapine response - Toxicity/ADR [RCV000211221]\|haloperidol response - Tox ... (more) ='font-weight:700;'>Toxicity/ADR [RCV000211305]\|olanzapine response - Toxicity/ADR [RCV000211428]\|paliperidone response - Toxicity/ADR [RCV000211214]\|quetiapine response - Toxicity/ADR [RCV000211337]\|risperidone response - Toxicity/ADR [RCV000211159]\|ziprasidone response - Toxicity/ADR [RCV000211203]	drug response	18	60215554	60215554	Human	2	trait
8688957	CV136743	single nucleotide variant	NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)	Malignant hyperthermia, susceptibility to, 1 [RCV001588932]\|RYR1-related disorder [RCV003591679]\|desflurane response - Toxicity [RCV001787930]\|enflurane response - Toxicity [RCV001787931]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV001787932]\|isoflurane response - Toxicity [RCV001787933]\|methoxyflurane response - Toxicity [RCV001787934]\|not provided [RCV000119411]\|sevoflurane response - Toxicity [RCV001787935]\|succinylcholine response - Toxicity [RCV001787936]	pathogenic\|drug response\|not provided	19	38440802	38440802	Human	2	trait
8688989	CV136775	single nucleotide variant	NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)	Malignant hyperthermia of anesthesia [RCV004017405]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281939]\|desflurane response - Toxicity [RCV001787937]\|enflurane response - Toxicity [RCV001787938]\|halothane response - ... (more) Toxicity [RCV001787939]\|isoflurane response - Toxicity [RCV001787940]\|methoxyflurane response - Toxicity [RCV001787941]\|not provided [RCV000119447]\|sevoflurane response - Toxicity [RCV001787942]\|succinylcholine response - Toxicity [RCV001787943]	pathogenic\|drug response\|not provided	19	38543832	38543832	Human	3	trait
8688991	CV136777	single nucleotide variant	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	Inborn genetic diseases [RCV001266973]\|Malignant hyperthermia of anesthesia [RCV000610923]\|Malignant hyperthermia, susceptibility to, 1 [RCV001822999]\|RYR1-related disorder [RCV000802489]\|desflurane response - Toxicity [RCV003227642]\|enflurane response - Tox ... (more) tyle='font-weight:700;'>Toxicity [RCV003227643]\|halothane response - Toxicity [RCV003227644]\|isoflurane response - Toxicity [RCV003227645]\|methoxyflurane response - Toxicity [RCV003227646]\|not provided [RCV000119449]\|sevoflurane response - Toxicity [RCV003227647]\|succinylcholine response - Toxicity [RCV003227648]	pathogenic\|likely pathogenic\|drug response\|uncertain significance\|not provided	19	38451842	38451842	Human	4	trait
8689007	CV136793	single nucleotide variant	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	Central core myopathy [RCV003338417]\|Central core myopathy [RCV005025189]\|Malignant hyperthermia of anesthesia [RCV004689616]\|Malignant hyperthermia, susceptibility to, 1 [RCV001588936]\|RYR1-related disorder [RCV001238887]\|desflurane response - Toxicity [RCV0017 ... (more) 87944]\|enflurane response - Toxicity [RCV001787945]\|halothane response - Toxicity [RCV001787946]\|isoflurane response - Toxicity [RCV001787947]\|methoxyflurane response - Toxicity [RCV001787948]\|not provided [RCV000119473]\|sevoflurane response - Toxicity [RCV001787949]\|succinylcholine response - Toxicity [RCV001787950]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	19	38440829	38440829	Human	7	trait
8689034	CV136820	single nucleotide variant	NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr)	Malignant hyperthermia, susceptibility to, 1 [RCV002225084]\|desflurane response - Toxicity [RCV001787951]\|enflurane response - Toxicity [RCV001787952]\|halothane response - Toxicity [RCV0 ... (more) 01787953]\|isoflurane response - Toxicity [RCV001787954]\|methoxyflurane response - Toxicity [RCV001787955]\|not provided [RCV000119521]\|sevoflurane response - Toxicity [RCV001787956]\|succinylcholine response - Toxicity [RCV001787957]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38580114	38580114	Human	2	trait
8689036	CV136822	single nucleotide variant	NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)	Malignant hyperthermia, susceptibility to, 1 [RCV002281941]\|desflurane response - Toxicity [RCV001787958]\|enflurane response - Toxicity [RCV001787959]\|halothane response - Toxicity [RCV0 ... (more) 01787960]\|isoflurane response - Toxicity [RCV001787961]\|methoxyflurane response - Toxicity [RCV001787962]\|not provided [RCV000119523]\|sevoflurane response - Toxicity [RCV001787963]\|succinylcholine response - Toxicity [RCV001787964]	likely pathogenic\|drug response\|not provided	19	38580370	38580370	Human	2	trait
8689064	CV136849	single nucleotide variant	NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	Central core myopathy [RCV005016408]\|Malignant hyperthermia of anesthesia [RCV004700425]\|Malignant hyperthermia, susceptibility to, 1 [RCV001588943]\|RYR1-related disorder [RCV000802081]\|desflurane response - Toxicity [RCV003227649]\|enflurane response - Tox ... (more) le='font-weight:700;'>Toxicity [RCV003227650]\|halothane response - Toxicity [RCV003227651]\|isoflurane response - Toxicity [RCV003227652]\|methoxyflurane response - Toxicity [RCV003227653]\|not provided [RCV000119577]\|sevoflurane response - Toxicity [RCV003227654]\|succinylcholine response - Toxicity [RCV003227655]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38455471	38455471	Human	7	trait
8689068	CV136853	single nucleotide variant	NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	Central core myopathy [RCV003325460]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281942]\|RYR1-related disorder [RCV000536735]\|desflurane response - Toxicity [RCV001787965]\|enflurane response - Toxicity [RCV001787966] ... (more) \|halothane response - Toxicity [RCV001787967]\|isoflurane response - Toxicity [RCV001787968]\|methoxyflurane response - Toxicity [RCV001787969]\|not provided [RCV000119581]\|sevoflurane response - Toxicity [RCV001787970]\|succinylcholine response - Toxicity [RCV001787971]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38455528	38455528	Human	3	trait
8689070	CV136855	single nucleotide variant	NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	Central core myopathy [RCV002477305]\|Malignant hyperthermia, susceptibility to, 1 [RCV001705880]\|RYR1-related disorder [RCV001068141]\|desflurane response - Toxicity [RCV002222020]\|enflurane response - Toxicity [RCV002222021] ... (more) \|halothane response - Toxicity [RCV002222022]\|isoflurane response - Toxicity [RCV002222023]\|methoxyflurane response - Toxicity [RCV002222024]\|not provided [RCV000119587]\|sevoflurane response - Toxicity [RCV002222025]\|succinylcholine response - Toxicity [RCV002222026]	pathogenic\|drug response\|not provided	19	38457546	38457546	Human	8	trait
8689099	CV136884	single nucleotide variant	NM_000540.3(RYR1):c.488G>T (p.Arg163Leu)	Malignant hyperthermia, susceptibility to, 1 [RCV001588949]\|desflurane response - Toxicity [RCV003227656]\|enflurane response - Toxicity [RCV003227657]\|halothane response - Toxicity [RCV0 ... (more) 03227658]\|isoflurane response - Toxicity [RCV003227659]\|methoxyflurane response - Toxicity [RCV003227660]\|not provided [RCV000119626]\|sevoflurane response - Toxicity [RCV003227661]\|succinylcholine response - Toxicity [RCV003227662]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38444212	38444212	Human	2	trait
8689136	CV136921	single nucleotide variant	NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	Central core myopathy [RCV004698826]\|Central core myopathy [RCV005409618]\|Malignant hyperthermia of anesthesia [RCV001824615]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281943]\|RYR1-related disorder [RCV000554523]\|desflurane response - Toxicity [RCV0017 ... (more) 87972]\|enflurane response - Toxicity [RCV001787973]\|halothane response - Toxicity [RCV001787974]\|isoflurane response - Toxicity [RCV001787975]\|methoxyflurane response - Toxicity [RCV001787976]\|not provided [RCV000119673]\|sevoflurane response - Toxicity [RCV001787977]\|succinylcholine response - Toxicity [RCV001787978]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38499223	38499223	Human	4	trait
8689142	CV136927	microsatellite	NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	Congenital multicore myopathy with external ophthalmoplegia [RCV000171131]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013850]\|RYR1-related disorder [RCV001384027]\|desflurane response - Toxicity [RCV001787979]\|enflurane response - Tox ... (more) t:700;'>Toxicity [RCV001787980]\|halothane response - Toxicity [RCV001787981]\|isoflurane response - Toxicity [RCV001787982]\|methoxyflurane response - Toxicity [RCV001787983]\|not provided [RCV000119679]\|sevoflurane response - Toxicity [RCV001787984]\|succinylcholine response - Toxicity [RCV001787985]	pathogenic\|likely pathogenic\|risk factor\|drug response\|not provided	19	38499645	38499647	Human		trait
8689144	CV136929	single nucleotide variant	NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	Malignant hyperthermia, susceptibility to, 1 [RCV000148806]\|RYR1-related disorder [RCV001383434]\|desflurane response - Toxicity [RCV001787986]\|enflurane response - Toxicity [RCV001787987]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV001787988]\|isoflurane response - Toxicity [RCV001787989]\|methoxyflurane response - Toxicity [RCV001787990]\|not provided [RCV000119681]\|sevoflurane response - Toxicity [RCV001787991]\|succinylcholine response - Toxicity [RCV001787992]	pathogenic\|drug response\|not provided	19	38499655	38499655	Human	2	trait
8689145	CV136930	single nucleotide variant	NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	Central core myopathy [RCV000763425]\|Central core myopathy [RCV004813060]\|Congenital multicore myopathy with external ophthalmoplegia [RCV000578408]\|Malignant hyperthermia of anesthesia [RCV004017408]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281944]\|RYR1-related disorder [RCV000803469]\|de ... (more) sflurane response - Toxicity [RCV001787993]\|enflurane response - Toxicity [RCV001787994]\|halothane response - Toxicity [RCV001787995]\|isoflurane response - Toxicity [RCV001787996]\|methoxyflurane response - Toxicity [RCV001787997]\|not provided [RCV000119682]\|sevoflurane response - Toxicity [RCV001787998]\|succinylcholine response - Toxicity [RCV001787999]	pathogenic\|drug response\|not provided	19	38499670	38499670	Human	8	trait
8689151	CV136936	single nucleotide variant	NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala)	Malignant hyperthermia, susceptibility to, 1 [RCV002281945]\|desflurane response - Toxicity [RCV001788000]\|enflurane response - Toxicity [RCV001788001]\|halothane response - Toxicity [RCV0 ... (more) 01788002]\|isoflurane response - Toxicity [RCV001788003]\|methoxyflurane response - Toxicity [RCV001788004]\|not provided [RCV000119690]\|sevoflurane response - Toxicity [RCV001788005]\|succinylcholine response - Toxicity [RCV001788006]	pathogenic\|drug response\|not provided	19	38499731	38499731	Human	2	trait
8689155	CV136940	single nucleotide variant	NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	Central core myopathy [RCV001127651]\|Central core myopathy [RCV002492410]\|Congenital multicore myopathy with external ophthalmoplegia [RCV001127649]\|Inborn genetic diseases [RCV004019662]\|Malignant hyperthermia, susceptibility to [RCV004556734]\|Malignant hyperthermia, susceptibility to, 1 [RCV001127 ... (more) 650]\|RYR1-related disorder [RCV001236218]\|desflurane response - Toxicity [RCV001788007]\|enflurane response - Toxicity [RCV001788008]\|halothane response - Toxicity [RCV001788009]\|isoflurane response - Toxicity [RCV001788010]\|methoxyflurane response - Toxicity [RCV001788011]\|not provided [RCV000119695]\|sevoflurane response - Toxicity [RCV001788012]\|succinylcholine response - Toxicity [RCV001788013]	pathogenic\|likely pathogenic\|drug response\|uncertain significance\|not provided	19	38499975	38499975	Human	9	trait
8689164	CV136949	single nucleotide variant	NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	Congenital multicore myopathy with external ophthalmoplegia [RCV005406833]\|Malignant hyperthermia of anesthesia [RCV000601471]\|Malignant hyperthermia, susceptibility to, 1 [RCV001257496]\|RYR1-related disorder [RCV000655594]\|RYR1-related myopathy [RCV004786377]\|desflurane response - Tox ... (more) -weight:700;'>Toxicity [RCV001788014]\|enflurane response - Toxicity [RCV001788015]\|halothane response - Toxicity [RCV001788016]\|isoflurane response - Toxicity [RCV001788017]\|methoxyflurane response - Toxicity [RCV001788018]\|not provided [RCV000119709]\|sevoflurane response - Toxicity [RCV001788019]\|succinylcholine response - Toxicity [RCV001788020]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38500642	38500642	Human	5	trait
8689169	CV136954	single nucleotide variant	NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)	Malignant hyperthermia, susceptibility to, 1 [RCV001588961]\|RYR1-related disorder [RCV000528193]\|desflurane response - Toxicity [RCV001788021]\|enflurane response - Toxicity [RCV001788022]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV001788023]\|isoflurane response - Toxicity [RCV001788024]\|methoxyflurane response - Toxicity [RCV001788025]\|not provided [RCV000119719]\|sevoflurane response - Toxicity [RCV001788026]\|succinylcholine response - Toxicity [RCV001788027]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38500899	38500899	Human	2	trait
8689202	CV136985	single nucleotide variant	NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)	Malignant hyperthermia, susceptibility to, 1 [RCV002281947]\|RYR1-related disorder [RCV000691233]\|desflurane response - Toxicity [RCV001788028]\|enflurane response - Toxicity [RCV001788029]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV001788030]\|isoflurane response - Toxicity [RCV001788031]\|methoxyflurane response - Toxicity [RCV001788032]\|not provided [RCV000119768]\|sevoflurane response - Toxicity [RCV001788033]\|succinylcholine response - Toxicity [RCV001788034]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38512321	38512321	Human	2	trait
8689207	CV136990	single nucleotide variant	NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)	Malignant hyperthermia, susceptibility to, 1 [RCV001588963]\|RYR1-related disorder [RCV001854587]\|desflurane response - Toxicity [RCV003227663]\|enflurane response - Toxicity [RCV003227664]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV003227665]\|isoflurane response - Toxicity [RCV003227666]\|methoxyflurane response - Toxicity [RCV003227667]\|not provided [RCV000119775]\|sevoflurane response - Toxicity [RCV003227668]\|succinylcholine response - Toxicity [RCV003227669]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	19	38448673	38448673	Human	2	trait
8563405	CV28003	single nucleotide variant	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	Central core myopathy [RCV002496349]\|Inborn genetic diseases [RCV000624176]\|Malignant hyperthermia of anesthesia [RCV000608635]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013830]\|RYR1-related disorder [RCV000538121]\|desflurane response - Toxicity [RCV00 ... (more) 1787388]\|enflurane response - Toxicity [RCV001787389]\|halothane response - Toxicity [RCV001787390]\|isoflurane response - Toxicity [RCV001787391]\|methoxyflurane response - Toxicity [RCV001787392]\|not provided [RCV000119586]\|sevoflurane response - Toxicity [RCV001787393]\|succinylcholine response - Toxicity [RCV001787394]	pathogenic\|likely pathogenic\|risk factor\|drug response\|conflicting data from submitters\|not provided	19	38457545	38457545	Human	10	trait
8563407	CV28005	single nucleotide variant	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	Central core myopathy [RCV000013832]\|Central core myopathy [RCV005409599]\|Malignant hyperthermia of anesthesia [RCV004017238]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281705]\|RYR1-related disorder [RCV000707405]\|desflurane response - Toxicity [RCV0017 ... (more) 87395]\|enflurane response - Toxicity [RCV001787396]\|halothane response - Toxicity [RCV001787397]\|isoflurane response - Toxicity [RCV001787398]\|methoxyflurane response - Toxicity [RCV001787399]\|not provided [RCV000119699]\|sevoflurane response - Toxicity [RCV001787400]\|succinylcholine response - Toxicity [RCV001787401]	pathogenic\|drug response\|not provided	19	38499997	38499997	Human	4	trait
8563408	CV28006	single nucleotide variant	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	Central core myopathy [RCV000013834]\|Malignant hyperthermia of anesthesia [RCV004017239]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013833]\|RYR1-related disorder [RCV000806352]\|desflurane response - Toxicity [RCV001787402]\|enflurane response - Tox ... (more) le='font-weight:700;'>Toxicity [RCV001787706]\|halothane response - Toxicity [RCV001787707]\|isoflurane response - Toxicity [RCV001787708]\|methoxyflurane response - Toxicity [RCV001787709]\|not provided [RCV000119625]\|sevoflurane response - Toxicity [RCV001787710]\|succinylcholine response - Toxicity [RCV001787711]	pathogenic\|risk factor\|drug response\|not provided	19	38444211	38444211	Human	4	trait
8563409	CV28007	single nucleotide variant	NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)	Central core myopathy [RCV000013835]\|Malignant hyperthermia, susceptibility to, 1 [RCV003231102]\|RYR1-related disorder [RCV003591629]\|desflurane response - Toxicity [RCV001787712]\|enflurane response - Toxicity [RCV001787713] ... (more) \|halothane response - Toxicity [RCV001787714]\|isoflurane response - Toxicity [RCV001787715]\|methoxyflurane response - Toxicity [RCV001787716]\|not provided [RCV000119453]\|not specified [RCV004782014]\|sevoflurane response - Toxicity [RCV001787717]\|succinylcholine response - Toxicity [RCV001787718]	pathogenic\|likely pathogenic\|drug response\|uncertain significance\|not provided	19	38451850	38451850	Human	3	trait
8563411	CV28009	single nucleotide variant	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	Central core myopathy [RCV002288488]\|Central core myopathy [RCV005025050]\|Inborn genetic diseases [RCV002513026]\|Malignant hyperthermia of anesthesia [RCV000612258]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013837]\|RYR1-related disorder [RCV000551243]\|desflurane response - Tox ... (more) t-weight:700;'>Toxicity [RCV001787719]\|enflurane response - Toxicity [RCV001787720]\|halothane response - Toxicity [RCV001787721]\|isoflurane response - Toxicity [RCV001787722]\|methoxyflurane response - Toxicity [RCV001787723]\|not provided [RCV000119698]\|sevoflurane response - Toxicity [RCV001787724]\|succinylcholine response - Toxicity [RCV001787725]	pathogenic\|risk factor\|drug response\|not provided	19	38499993	38499993	Human	8	trait
8563412	CV28010	single nucleotide variant	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	Central core myopathy [RCV002490361]\|Malignant hyperthermia of anesthesia [RCV000614410]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013838]\|RYR1-related disorder [RCV000796565]\|desflurane response - Toxicity [RCV001787726]\|enflurane response - Tox ... (more) le='font-weight:700;'>Toxicity [RCV001787727]\|halothane response - Toxicity [RCV001787728]\|isoflurane response - Toxicity [RCV001787729]\|methoxyflurane response - Toxicity [RCV001787730]\|not provided [RCV000119711]\|sevoflurane response - Toxicity [RCV001787731]\|succinylcholine response - Toxicity [RCV001787732]	pathogenic\|likely pathogenic\|risk factor\|drug response\|not provided	19	38500654	38500654	Human	9	trait
8563413	CV28011	single nucleotide variant	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	Malignant hyperthermia of anesthesia [RCV004017240]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013839]\|RYR1-related disorder [RCV000793289]\|desflurane response - Toxicity [RCV001787733]\|enflurane response - Toxicity ... (more) [RCV001787734]\|halothane response - Toxicity [RCV001787735]\|isoflurane response - Toxicity [RCV001787736]\|methoxyflurane response - Toxicity [RCV001787737]\|not provided [RCV000079164]\|sevoflurane response - Toxicity [RCV001787738]\|succinylcholine response - Toxicity [RCV001787739]	pathogenic\|likely pathogenic\|risk factor\|drug response\|not provided	19	38500655	38500655	Human	3	trait
8563414	CV28012	single nucleotide variant	NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	Central core myopathy [RCV000056223]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013840]\|RYR1-related disorder [RCV001385701]\|desflurane response - Toxicity [RCV001787740]\|enflurane response - Toxicity [RCV001787741] ... (more) \|halothane response - Toxicity [RCV001787742]\|isoflurane response - Toxicity [RCV001787743]\|methoxyflurane response - Toxicity [RCV001787744]\|not provided [RCV000119653]\|sevoflurane response - Toxicity [RCV001787745]\|succinylcholine response - Toxicity [RCV001787746]	pathogenic\|risk factor\|drug response\|not provided	19	38494564	38494564	Human	3	trait
8563415	CV28013	single nucleotide variant	NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	Central core myopathy [RCV000013842]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013841]\|RYR1-related disorder [RCV001204982]\|desflurane response - Toxicity [RCV001787747]\|enflurane response - Toxicity [RCV001787748] ... (more) \|halothane response - Toxicity [RCV001787749]\|isoflurane response - Toxicity [RCV001787750]\|methoxyflurane response - Toxicity [RCV001787751]\|not provided [RCV000119654]\|sevoflurane response - Toxicity [RCV001787752]\|succinylcholine response - Toxicity [RCV001787753]	pathogenic\|likely pathogenic\|risk factor\|drug response\|not provided	19	38494565	38494565	Human	3	trait
8563416	CV28014	single nucleotide variant	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	Central core myopathy [RCV000013843]\|Central core myopathy [RCV000763430]\|Congenital myopathy [RCV004586003]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013844]\|RYR1-related disorder [RCV000535754]\|RYR1-related myopathy [RCV004737150]\|desflurane response - Tox ... (more) /span>icity [RCV001787754]\|enflurane response - Toxicity [RCV001787755]\|halothane response - Toxicity [RCV001787756]\|isoflurane response - Toxicity [RCV001787757]\|methoxyflurane response - Toxicity [RCV001787758]\|not provided [RCV000119552]\|sevoflurane response - Toxicity [RCV001787759]\|succinylcholine response - Toxicity [RCV001787760]	pathogenic\|likely pathogenic\|risk factor\|drug response\|uncertain significance\|not provided	19	38584989	38584989	Human	8	trait
8563417	CV28015	single nucleotide variant	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	Central core myopathy [RCV001729347]\|Congenital multicore myopathy with external ophthalmoplegia [RCV000578323]\|Malignant hyperthermia of anesthesia [RCV003398498]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013845]\|RYR1-related disorder [RCV000557804]\|desflurane response - Tox ... (more) -weight:700;'>Toxicity [RCV001787761]\|enflurane response - Toxicity [RCV001787762]\|halothane response - Toxicity [RCV001787763]\|isoflurane response - Toxicity [RCV001787764]\|methoxyflurane response - Toxicity [RCV001787765]\|not provided [RCV000119656]\|sevoflurane response - Toxicity [RCV001787766]\|succinylcholine response - Toxicity [RCV001787767]	pathogenic\|risk factor\|drug response\|not provided	19	38494579	38494579	Human	6	trait
8563419	CV28017	single nucleotide variant	NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	Malignant hyperthermia, susceptibility to, 1 [RCV000013847]\|RYR1-related disorder [RCV003591630]\|desflurane response - Toxicity [RCV001787768]\|enflurane response - Toxicity [RCV001787769]\|halothane response - Tox ... (more) nt-weight:700;'>Toxicity [RCV001787770]\|isoflurane response - Toxicity [RCV001787771]\|methoxyflurane response - Toxicity [RCV001787772]\|not provided [RCV000119520]\|sevoflurane response - Toxicity [RCV001787773]\|succinylcholine response - Toxicity [RCV001787774]	pathogenic\|risk factor\|drug response\|not provided	19	38580094	38580094	Human	2	trait
8563420	CV28018	single nucleotide variant	NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	Central core myopathy [RCV000013848]\|Malignant hyperthermia, susceptibility to, 1 [RCV000013849]\|RYR1-related disorder [RCV001060960]\|desflurane response - Toxicity [RCV001787775]\|enflurane response - Toxicity [RCV001787776] ... (more) \|halothane response - Toxicity [RCV001787777]\|isoflurane response - Toxicity [RCV001787778]\|methoxyflurane response - Toxicity [RCV001787779]\|not provided [RCV000119509]\|sevoflurane response - Toxicity [RCV001787780]\|succinylcholine response - Toxicity [RCV001787781]	pathogenic\|risk factor\|drug response\|uncertain significance\|not provided	19	38580004	38580004	Human	3	trait
8563423	CV28021	single nucleotide variant	NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	Central core myopathy [RCV000013852]\|Malignant hyperthermia of anesthesia [RCV004017241]\|Malignant hyperthermia, susceptibility to, 1 [RCV000851296]\|RYR1-related disorder [RCV000534187]\|RYR1-related myopathy [RCV004991972]\|desflurane response - Toxicity [RCV0017 ... (more) 87782]\|enflurane response - Toxicity [RCV001787783]\|halothane response - Toxicity [RCV001787784]\|isoflurane response - Toxicity [RCV001787785]\|methoxyflurane response - Toxicity [RCV001787786]\|not provided [RCV000119533]\|sevoflurane response - Toxicity [RCV001787787]\|succinylcholine response - Toxicity [RCV001787788]	pathogenic\|drug response\|uncertain significance\|not provided	19	38580440	38580440	Human	4	trait
8563425	CV28023	single nucleotide variant	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	Centronuclear myopathy [RCV004586004]\|Congenital multicore myopathy with external ophthalmoplegia [RCV000013856]\|Inborn genetic diseases [RCV004658962]\|Malignant hyperthermia of anesthesia [RCV004017242]\|Malignant hyperthermia, susceptibility to, 1 [RCV000990211]\|RYR1-related disorder [RCV001060435] ... (more) \|RYR1-related myopathy [RCV004786258]\|desflurane response - Toxicity [RCV001787789]\|enflurane response - Toxicity [RCV001787790]\|halothane response - Toxicity [RCV001787791]\|isoflurane response - Toxicity [RCV001787792]\|methoxyflurane response - Toxicity [RCV001787793]\|not provided [RCV000119527]\|sevoflurane response - Toxicity [RCV001787794]\|succinylcholine response - Toxicity [RCV001787795]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38580403	38580403	Human	8	trait
8563433	CV28032	single nucleotide variant	NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	Malignant hyperthermia, susceptibility to, 1 [RCV000013865]\|desflurane response - Toxicity [RCV001787796]\|enflurane response - Toxicity [RCV001787797]\|halothane response - Toxicity [RCV0 ... (more) 01787798]\|isoflurane response - Toxicity [RCV001787799]\|methoxyflurane response - Toxicity [RCV001787800]\|not provided [RCV000119574]\|sevoflurane response - Toxicity [RCV001787801]\|succinylcholine response - Toxicity [RCV001787802]	pathogenic\|risk factor\|drug response\|not provided	19	38455359	38455359	Human	2	trait
8566324	CV32665	single nucleotide variant	NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)	Hypokalemic periodic paralysis, type 1 [RCV001851936]\|Malignant hyperthermia, susceptibility to, 5 [RCV000019193]\|desflurane response - Toxicity [RCV003227606]\|enflurane response - Toxicity [RCV001787808]\|halothane response ... (more) - Toxicity [RCV001787809]\|isoflurane response - Toxicity [RCV001787810]\|methoxyflurane response - Toxicity [RCV001787811]\|not provided [RCV001753422]\|sevoflurane response - Toxicity [RCV001787812]\|succinylcholine response - Toxicity [RCV001787813]	pathogenic\|risk factor\|drug response	1	201060815	201060815	Human	3	trait
9688413	CV40587	single nucleotide variant	NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)	Gilbert syndrome [RCV000999565]\|Rotor syndrome [RCV000311457]\|SLCO1B1-related disorder [RCV003982852]\|atorvastatin response - Metabolism/PK [RCV001787819]\|atorvastatin response - Toxicity [RCV001787820]\|fluvastatin response - Metabolism/PK [RCV003227613]\|fluvast ... (more) atin response - Toxicity [RCV003227614]\|hmg coa reductase inhibitors response - Toxicity [RCV001787333]\|lovastatin acid response - Metabolism/PK [RCV003227615]\|lovastatin response - Metabolism/PK [RCV003227616]\|lovastatin response - Toxicity [RCV003227617]\|not provided [RCV000325818]\|not specified [RCV001705611]\|pitavastatin response - Metabolism/PK [RCV003227618]\|pravastatin response - Toxicity [RCV003227619]\|rosuvastatin response - Metabolism/PK [RCV001787324]\|rosuvastatin response - Toxicity [RCV003227620]\|simvastatin acid response - Metabolism/PK [RCV000660832]\|simvastatin response - Metabolism/PK [RCV003227621]\|simvastatin response - Toxicity [RCV001787325]	pathogenic\|benign\|likely benign\|drug response\|other\|not provided	12	21178615	21178615	Human	156	trait
13801887	CV557106	single nucleotide variant	NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	Hypokalemic periodic paralysis, type 1 [RCV000698038]\|Hypokalemic periodic paralysis, type 1 [RCV005010706]\|Malignant hyperthermia of anesthesia [RCV004017719]\|Malignant hyperthermia, susceptibility to, 5 [RCV002468602]\|desflurane response - Toxicity [RCV0017883 ... (more) 30]\|enflurane response - Toxicity [RCV001788331]\|halothane response - Toxicity [RCV001788332]\|isoflurane response - Toxicity [RCV001788333]\|methoxyflurane response - Toxicity [RCV001788334]\|not provided [RCV001093102]\|not specified [RCV002249414]\|sevoflurane response - Toxicity [RCV001788335]\|succinylcholine response - Toxicity [RCV001788336]	pathogenic\|likely pathogenic\|drug response\|uncertain significance	1	201091993	201091993	Human	6	trait , alternate_id
8573509	CV76887	single nucleotide variant	NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	Central core myopathy [RCV000056226]\|King Denborough syndrome [RCV001729374]\|Malignant hyperthermia, susceptibility to, 1 [RCV002281899]\|RYR1-related disorder [RCV000527240]\|RYR1-related myopathy [RCV002221195]\|desflurane response - Toxicity [RCV001787847]\|enflu ... (more) rane response - Toxicity [RCV001787848]\|halothane response - Toxicity [RCV001787849]\|isoflurane response - Toxicity [RCV001787850]\|methoxyflurane response - Toxicity [RCV001787851]\|not provided [RCV000119706]\|sevoflurane response - Toxicity [RCV001787852]\|succinylcholine response - Toxicity [RCV001787853]	pathogenic\|likely pathogenic\|drug response\|not provided	19	38500636	38500636	Human	4	trait
8573510	CV76888	single nucleotide variant	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	Central core myopathy [RCV000056227]\|Central core myopathy [RCV005016355]\|Malignant hyperthermia of anesthesia [RCV004700357]\|Malignant hyperthermia, susceptibility to, 1 [RCV000709760]\|RYR1-related disorder [RCV000699835]\|desflurane response - Toxicity [RCV0017 ... (more) 87854]\|enflurane response - Toxicity [RCV001787855]\|halothane response - Toxicity [RCV001787856]\|isoflurane response - Toxicity [RCV001787857]\|methoxyflurane response - Toxicity [RCV001787858]\|not provided [RCV000119710]\|sevoflurane response - Toxicity [RCV001787859]\|succinylcholine response - Toxicity [RCV001787860]	pathogenic\|drug response\|not provided	19	38500643	38500643	Human	7	trait
8554992	CV24667	single nucleotide variant	NC_012920.1(MT-ND1):m.1555A>G	Aminoglycoside induced ototoxicity [RCV004554597]\|Aminoglycoside-induced deafness [RCV000010254]\|Aminoglycoside-induced deafness [RCV000505667]\|Gentamicin response [RCV000722074]\|Hearing loss, sensorineural, autosomal-mitochondrial type [RCV003445067]\|Mitochondr ... (more) ial disease [RCV003153300]\|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010255]\|Rare genetic deafness [RCV000844677]\|Restrictive cardiomyopathy [RCV000010256]\|amikacin response - Toxicity [RCV001787375]\|aminoglycoside antibacterials response - Toxicity [RCV001787321]\|gentamicin response - Toxicity [RCV001787374]\|kanamycin response - Toxicity [RCV001787376]\|not provided [RCV000224935]\|streptomycin response - Toxicity [RCV001787377]\|tobramycin response - Toxicity [RCV001787378]	pathogenic\|likely pathogenic\|drug response	MT	1555	1555	Human	6	trait , alternate_id
8554995	CV24671	single nucleotide variant	NC_012920.1(MT-ND1):m.1494C>T	Aminoglycoside Ototoxicity [RCV004554598]\|Aminoglycoside-induced deafness [RCV000010262]\|Gentamicin response [RCV000722075]\|Mitochondrial disease [RCV002291211]\|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010263]\|Rare genetic deafness [RCV00144 ... (more) 9811]\|aminoglycoside antibacterials response - Toxicity [RCV001787322]\|gentamicin response - Toxicity [RCV001787383]\|kanamycin response - Toxicity [RCV001787384]\|streptomycin response - Toxicity [RCV001787385]\|tobramycin response - Toxicity [RCV001787386]	pathogenic\|likely pathogenic\|risk factor\|drug response	MT	1494	1494	Human	3	trait , alternate_id
8554994	CV24670	single nucleotide variant	NC_012920.1(MT-CYB):m.1095T>C	Aminoglycoside-induced deafness [RCV000010259]\|Auditory neuropathy [RCV000010261]\|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010260]\|aminoglycoside antibacterials response - Toxicity [RCV001787380]\|gentamicin response - Tox ... (more) t:700;'>Toxicity [RCV001787379]\|kanamycin response - Toxicity [RCV001787381]\|not provided [RCV004696633]\|not specified [RCV000035031]\|streptomycin response - Toxicity [RCV001787382]	pathogenic\|likely pathogenic\|drug response\|uncertain significance	MT	1095	1095	Human	3	trait , alternate_id
8555629	CV15471	single nucleotide variant	NM_000110.4(DPYD):c.1905+1G>A	DPYD-related disorder [RCV005222656]\|Dihydropyrimidine dehydrogenase deficiency [RCV000000460]\|Fluorouracil response [RCV000030868]\|Hirschsprung disease, susceptibility to, 1 [RCV000201291]\|Inborn genetic diseases [RCV004018525]\|capecitabine response - Toxicity ... (more) [RCV001787360]\|fluorouracil response - Other [RCV001787359]\|fluorouracil response - Toxicity [RCV001787337]\|not provided [RCV000086468]\|tegafur response - Toxicity [RCV001787361]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	1	97450058	97450058	Human	5	trait , alternate_id
8646473	CV94529	single nucleotide variant	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD-related disorder [RCV005222738]\|Dihydropyrimidine dehydrogenase deficiency [RCV000410600]\|Fluorouracil response [RCV000500980]\|Inborn genetic diseases [RCV000623094]\|capecitabine response - Toxicity [RCV001787864]\|fluorouracil response - Other [RCV001787863 ... (more) ]\|fluorouracil response - Toxicity [RCV001787336]\|not provided [RCV000086452]\|tegafur response - Toxicity [RCV001787865]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|no classifications from unflagged records\|other\|not provided	1	97082391	97082391	Human	3	trait , alternate_id
8646495	CV94530	single nucleotide variant	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	Dihydropyrimidine dehydrogenase deficiency [RCV000410952]\|Inborn genetic diseases [RCV004619197]\|capecitabine response - Toxicity [RCV001787867]\|fluorouracil response - Other [RCV001787866]\|fluorouracil response - Toxicity [ ... (more) RCV001787326]\|not provided [RCV000086474]\|tegafur response - Toxicity [RCV001787868]	pathogenic\|likely pathogenic\|drug response\|not provided	1	97515787	97515787	Human	3	trait
8583480	CV118042	single nucleotide variant	NM_001303523.1(TOX4):c.6+4451A>G	Lung cancer [RCV000098562]	uncertain significance	14	21481735	21481735	Human		name
8584893	CV119470	single nucleotide variant	NM_001146188.1(TOX3):c.75+5866A>T	Lung cancer [RCV000099990]	uncertain significance	16	52513540	52513540	Human		name
8584892	CV119469	single nucleotide variant	NM_001146188.1(TOX3):c.76-20579A>T	Lung cancer [RCV000099989]	uncertain significance	16	52489153	52489153	Human		name
8586478	CV121081	single nucleotide variant	NM_001098796.1(TOX2):c.-28+4685C>T	Lung cancer [RCV000101601]	uncertain significance	20	43920893	43920893	Human		name
8584894	CV119471	single nucleotide variant	NM_001146188.1(TOX3):c.-100+11611A>T	Lung cancer [RCV000099991]	uncertain significance	16	52536103	52536103	Human		name
8646483	CV105957	single nucleotide variant	NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)	DPYD-related disorder [RCV003891585]\|Dihydropyrimidine dehydrogenase deficiency [RCV000407597]\|capecitabine response - Toxicity [RCV001787903]\|fluorouracil response - Other [RCV001787902]\|fluorouracil response - Toxicity [RC ... (more) V001787904]\|not provided [RCV000086462]\|not specified [RCV000249656]	benign\|likely benign\|drug response\|not provided	1	97305364	97305364	Human	2	trait
8646491	CV105965	single nucleotide variant	NM_000110.4(DPYD):c.1896T>C (p.Phe632=)	Dihydropyrimidine dehydrogenase deficiency [RCV000270743]\|capecitabine response - Toxicity [RCV001787905]\|fluorouracil response - Toxicity [RCV001787906]\|not provided [RCV000086470]\|not specified [RCV000244711]	benign\|likely benign\|drug response\|not provided	1	97450068	97450068	Human	2	trait
8646496	CV105969	single nucleotide variant	NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)	DPYD-related disorder [RCV003891586]\|Dihydropyrimidine dehydrogenase deficiency [RCV000389596]\|capecitabine response - Toxicity [RCV001787907]\|fluorouracil response - Toxicity [RCV001787908]\|not provided [RCV000086475]\|not s ... (more) pecified [RCV000174446]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97515839	97515839	Human	2	trait
8646498	CV105971	single nucleotide variant	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD-related disorder [RCV003891587]\|Dihydropyrimidine dehydrogenase deficiency [RCV000603277]\|capecitabine response - Toxicity [RCV001787909]\|fluorouracil response - Toxicity [RCV001787910]\|not provided [RCV000086477]\|not s ... (more) pecified [RCV000249334]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	1	97515865	97515865	Human	2	trait
8646504	CV105977	single nucleotide variant	NM_000110.4(DPYD):c.1236G>A (p.Glu412=)	Dihydropyrimidine dehydrogenase deficiency [RCV001102326]\|capecitabine response - Toxicity [RCV001787911]\|fluorouracil response - Toxicity [RCV001787912]\|not provided [RCV000086483]\|not specified [RCV000252397]	benign\|likely benign\|drug response\|not provided	1	97573863	97573863	Human	2	trait
8646520	CV105993	single nucleotide variant	NM_000110.4(DPYD):c.496A>G (p.Met166Val)	DPYD-related disorder [RCV003891588]\|Dihydropyrimidine dehydrogenase deficiency [RCV000276917]\|capecitabine response - Toxicity [RCV001787915]\|fluorouracil response - Toxicity [RCV001787916]\|not provided [RCV000086499]\|not s ... (more) pecified [RCV000245015]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97699535	97699535	Human	2	trait
8594982	CV15474	single nucleotide variant	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV000000464]\|capecitabine response - Toxicity [RCV001787362]\|fluorouracil response - Toxicity [RCV001787363]\|not provided [RCV000711510]\|not specified [RCV002247229]	pathogenic\|benign\|drug response	1	97883329	97883329	Human	5	trait
8594982	CV15474	single nucleotide variant	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	Dihydropyrimidine dehydrogenase deficiency [RCV000000464]\|capecitabine response - Toxicity [RCV001787362]\|fluorouracil response - Toxicity [RCV001787363]\|not provided [RCV000711510]\|not specified [RCV002247229]	pathogenic\|benign\|drug response	1	97883329	97883330	Human	5	trait
8556698	CV17250	single nucleotide variant	NM_024006.4(VKORC1):c.-1639G>A	See cases [RCV003993732]\|Thrombus [RCV003996074]\|VKORC1-related disorder [RCV003952337]\|Venous thromboembolism [RCV003150805]\|Warfarin response [RCV000002295]\|acenocoumarol response - Dosage [RCV003227594]\|not provided [RCV000377657]\|not specified [RCV000603173]\|phenprocoumon response - Dosage [RCV0 ... (more) 01787364]\|phenprocoumon response - Toxicity [RCV001787365]\|warfarin response - Dosage [RCV003227593]\|warfarin response - Efficacy [RCV003227595]\|warfarin response - Toxicity [RCV001787366]	pathogenic\|benign\|likely benign\|drug response\|protective\|uncertain significance\|other	16	31096368	31096368	Human	11	trait
11087690	CV227779	single nucleotide variant	NC_000015.9:g.45620985C>T	hmg coa reductase inhibitors response - Toxicity/ADR [RCV000211134]\|simvastatin response - Toxicity/ADR [RCV000211259]	drug response	15	45328787	45328787	Human	1	trait
11087690	CV227779	single nucleotide variant	NC_000015.9:g.45620985C>T	hmg coa reductase inhibitors response - Toxicity/ADR [RCV000211134]\|simvastatin response - Toxicity/ADR [RCV000211259]	drug response	15	45328787	45328788	Human	1	trait
11087735	CV227780	single nucleotide variant	NM_001321015.2(GATM):c.-394-272A>G	hmg coa reductase inhibitors response - Toxicity/ADR [RCV000211394]\|simvastatin response - Toxicity/ADR [RCV000211216]	drug response	15	45380831	45380831	Human		trait
11087736	CV227832	single nucleotide variant	NC_000011.9:g.103418158A>G	Platinum compounds response - Toxicity/ADR [RCV000211343]\|etoposide response - Toxicity/ADR [RCV000211218]	drug response	11	103547430	103547430	Human	5	trait
11087736	CV227832	single nucleotide variant	NC_000011.9:g.103418158A>G	Platinum compounds response - Toxicity/ADR [RCV000211343]\|etoposide response - Toxicity/ADR [RCV000211218]	drug response	11	103547430	103547431	Human	5	trait
11087697	CV227835	microsatellite	NC_000002.11:g.234668881_234668882TA[5][6][7][8]	SN-38 response - Other [RCV000211306]\|atazanavir and ritonavir response - Toxicity/ADR [RCV000211183]\|irinotecan response - Toxicity/ADR [RCV000211397]	drug response	2	233760235	233760236	Human		trait
14696472	CV623100	single nucleotide variant	NM_000110.4(DPYD):c.1129-5923C>G	DPYD-related disorder [RCV003975320]\|capecitabine response - Toxicity [RCV001788348]\|fluorouracil response - Other [RCV001788347]\|fluorouracil response - Toxicity [RCV001788349]\|not provided [RCV003411727]	pathogenic\|benign\|likely benign\|drug response	1	97579893	97579893	Human	1	trait
8596140	CV18559	single nucleotide variant	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	Gastrointestinal stromal tumor [RCV000144921]\|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001030751]\|MTHFR THERMOLABILE POLYMORPHISM [RCV000003697]\|Neural tube defects, folate-sensitive [RCV000259890]\|See cases [RCV004584309]\|Thrombophilia due to thrombin defect [RCV005 ... (more) 419857]\|methotrexate response - Toxicity [RCV001847567]\|not provided [RCV000153516]\|not specified [RCV000428048]	pathogenic\|risk factor\|association\|benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|other\|not provided	1	11796321	11796321	Human	36	trait , alternate_id
8603164	CV15472	single nucleotide variant	NM_000110.4(DPYD):c.2921A>T (p.Asp974Val)	Fluorouracil response [RCV000030869]	pathogenic	1	97079133	97079133	Human	1	alternate_id
126729053	CV1015940	single nucleotide variant	NM_014362.4(HIBCH):c.529G>C (p.Asp177His)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001333044]	uncertain significance	2	190252296	190252296	Human	2	alternate_id
126739025	CV1019517	single nucleotide variant	NM_014362.4(HIBCH):c.856C>T (p.Gln286Ter)	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001335656]	pathogenic	2	190244922	190244922	Human	1	alternate_id
126739020	CV1019518	single nucleotide variant	NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001335655]	uncertain significance	2	190246200	190246200	Human	2	alternate_id
127251295	CV1055171	single nucleotide variant	NM_014362.4(HIBCH):c.439-2A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001378527]	likely pathogenic\|conflicting interpretations of pathogenicity	2	190261236	190261236	Human	2	alternate_id
150535904	CV1312093	single nucleotide variant	NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001868830]\|Inborn genetic diseases [RCV003163921]\|not provided [RCV001779905]	uncertain significance	2	190208889	190208889	Human	3	alternate_id
150544441	CV1313344	single nucleotide variant	NM_014362.4(HIBCH):c.937C>T (p.Gln313Ter)	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001783421]	pathogenic	2	190213030	190213030	Human	1	alternate_id
150542460	CV1314801	single nucleotide variant	NM_014362.4(HIBCH):c.439-1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001782252]	likely pathogenic	2	190261235	190261235	Human	2	alternate_id
151351389	CV1323538	single nucleotide variant	NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001806394]	likely pathogenic	2	190246186	190246186	Human	2	alternate_id
151350511	CV1324744	single nucleotide variant	NM_014362.4(HIBCH):c.386-1G>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001809189]	pathogenic\|likely pathogenic	2	190287639	190287639	Human	2	alternate_id
151813054	CV1341081	deletion	NC_000002.12:g.190246209_190246214del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001946420]	uncertain significance	2	190246207	190246212	Human	2	alternate_id
151786601	CV1367825	single nucleotide variant	NM_014362.4(HIBCH):c.196C>A (p.Arg66=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001894096]	likely benign\|uncertain significance	2	190296836	190296836	Human	2	alternate_id
151720286	CV1369554	single nucleotide variant	NM_014362.4(HIBCH):c.385+2T>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002036141]	likely pathogenic	2	190290403	190290403	Human	2	alternate_id
151718942	CV1382911	single nucleotide variant	NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002031650]	uncertain significance	2	190205175	190205175	Human	2	alternate_id
151793559	CV1399375	single nucleotide variant	NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001908616]	uncertain significance	2	190212993	190212993	Human	2	alternate_id
151722459	CV1401795	single nucleotide variant	NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002042720]	uncertain significance	2	190294566	190294566	Human	2	alternate_id
151811783	CV1403421	single nucleotide variant	NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001943646]	uncertain significance	2	190319747	190319747	Human	2	alternate_id
151814639	CV1406203	single nucleotide variant	NM_014362.4(HIBCH):c.153A>G (p.Leu51=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001949656]	likely benign	2	190296879	190296879	Human	2	alternate_id
151785344	CV1425107	single nucleotide variant	NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001891450]	uncertain significance	2	190319740	190319740	Human	2	alternate_id
151829337	CV1446497	single nucleotide variant	NM_014362.4(HIBCH):c.891+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001980827]	likely pathogenic	2	190244886	190244886	Human	2	alternate_id
151824025	CV1462187	deletion	NM_014362.4(HIBCH):c.1128del (p.Phe376fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001970494]	uncertain significance	2	190205150	190205150	Human	2	alternate_id
151797023	CV1482931	single nucleotide variant	NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001914882]\|See cases [RCV003156142]	pathogenic\|likely pathogenic	2	190208913	190208913	Human	2	alternate_id
151800280	CV1496343	single nucleotide variant	NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001921938]	uncertain significance	2	190296887	190296887	Human	2	alternate_id
151713102	CV1508560	single nucleotide variant	NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002010036]	uncertain significance	2	190208891	190208891	Human	2	alternate_id
152159217	CV1522015	single nucleotide variant	NM_014362.4(HIBCH):c.798C>T (p.Asp266=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002180626]	likely benign	2	190246165	190246165	Human	2	alternate_id
152042543	CV1522195	single nucleotide variant	NM_014362.4(HIBCH):c.809+19C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002088152]	likely benign	2	190246135	190246135	Human	2	alternate_id
152050771	CV1533292	single nucleotide variant	NM_014362.4(HIBCH):c.219+16A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002166850]	likely benign	2	190296797	190296797	Human	2	alternate_id
152072309	CV1551621	single nucleotide variant	NM_014362.4(HIBCH):c.892-18A>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002075271]	likely benign	2	190213093	190213093	Human	2	alternate_id
152076779	CV1564568	single nucleotide variant	NM_014362.4(HIBCH):c.897T>C (p.Ile299=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002192514]	likely benign	2	190213070	190213070	Human	2	alternate_id
152129515	CV1607786	deletion	NM_014362.4(HIBCH):c.1011+20del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002176612]	benign	2	190212936	190212936	Human	2	alternate_id
8555999	CV16183	single nucleotide variant	NM_014362.4(HIBCH):c.220-9T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001203]	pathogenic	2	190294639	190294639	Human	2	alternate_id
8556000	CV16184	single nucleotide variant	NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001204]\|Inborn genetic diseases [RCV000623332]\|not provided [RCV000224374]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	190290425	190290425	Human	3	alternate_id
8556001	CV16185	single nucleotide variant	NM_014362.4(HIBCH):c.79-3C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001205]	pathogenic	2	190296956	190296956	Human	2	alternate_id
152043415	CV1621868	single nucleotide variant	NM_014362.4(HIBCH):c.550T>C (p.Leu184=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002108046]	likely benign	2	190252275	190252275	Human	2	alternate_id
152139659	CV1625011	single nucleotide variant	NM_014362.4(HIBCH):c.891+18T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002219205]	likely benign	2	190244869	190244869	Human	2	alternate_id
152164737	CV1625548	single nucleotide variant	NM_014362.4(HIBCH):c.312G>A (p.Ser104=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002160308]	likely benign	2	190290478	190290478	Human	2	alternate_id
152048721	CV1656022	single nucleotide variant	NM_014362.4(HIBCH):c.783T>G (p.Leu261=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002207242]	likely benign	2	190246180	190246180	Human	2	alternate_id
155715442	CV1774115	single nucleotide variant	NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002296396]	uncertain significance	2	190249674	190249674	Human	2	alternate_id
10041634	CV185756	single nucleotide variant	NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000167584]	pathogenic\|likely pathogenic\|not provided	2	190213017	190213017	Human	2	alternate_id
156163916	CV1860014	single nucleotide variant	NM_014362.4(HIBCH):c.810-4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002573583]\|See cases [RCV003233005]	likely benign\|uncertain significance	2	190244972	190244972	Human	2	alternate_id
329954582	CV1860017	single nucleotide variant	NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003233008]	uncertain significance	X	130136723	130136723	Human	2	alternate_id
329954675	CV1860018	single nucleotide variant	NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003233009]	uncertain significance	2	190213009	190213009	Human	2	alternate_id
155798174	CV1861894	single nucleotide variant	NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002471297]	likely pathogenic	2	190244918	190244918	Human	2	alternate_id
156213745	CV1869141	deletion	NM_014362.4(HIBCH):c.1010_1011+3del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003058633]\|not provided [RCV003329457]	pathogenic\|likely pathogenic	2	190212953	190212957	Human	2	alternate_id
155946765	CV1872217	single nucleotide variant	NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003073896]\|Inborn genetic diseases [RCV004070242]	uncertain significance	2	190213022	190213022	Human	3	alternate_id
156160412	CV1872266	single nucleotide variant	NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003056878]	uncertain significance	2	190244946	190244946	Human	2	alternate_id
10044818	CV188107	single nucleotide variant	NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000170481]	pathogenic\|likely pathogenic\|uncertain significance	2	190296836	190296836	Human	2	alternate_id
156026421	CV1883328	single nucleotide variant	NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003077894]\|not provided [RCV004695299]	likely benign\|uncertain significance	2	190208890	190208890	Human	2	alternate_id
156254216	CV1884155	single nucleotide variant	NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003086217]	uncertain significance	2	190208897	190208897	Human	2	alternate_id
156369414	CV1887880	single nucleotide variant	NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003092300]	uncertain significance	2	190319716	190319716	Human	2	alternate_id
156127329	CV1889142	single nucleotide variant	NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003081690]\|Inborn genetic diseases [RCV004985162]	likely benign\|uncertain significance	2	190296907	190296907	Human	3	alternate_id
156354686	CV1894684	single nucleotide variant	NM_014362.4(HIBCH):c.1012-16C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003091252]	likely benign	2	190208929	190208929	Human	2	alternate_id
156416734	CV1898054	single nucleotide variant	NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002610334]	uncertain significance	2	190213042	190213042	Human	2	alternate_id
156365802	CV1906264	single nucleotide variant	NM_014362.4(HIBCH):c.751-4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003092045]	uncertain significance	2	190246216	190246216	Human	2	alternate_id
156161784	CV1906960	single nucleotide variant	NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003082922]\|Inborn genetic diseases [RCV004985193]	uncertain significance	2	190244915	190244915	Human	3	alternate_id
156101890	CV1907158	single nucleotide variant	NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003080632]	uncertain significance	2	190290466	190290466	Human	2	alternate_id
156418501	CV1922245	single nucleotide variant	NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002611698]	uncertain significance	2	190212963	190212963	Human	2	alternate_id
156298727	CV1924275	single nucleotide variant	NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002629138]	uncertain significance	2	190296857	190296857	Human	2	alternate_id
156305408	CV1931303	single nucleotide variant	NM_014362.4(HIBCH):c.518-12A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002647861]	likely benign	2	190252319	190252319	Human	2	alternate_id
156162047	CV1933259	single nucleotide variant	NM_014362.4(HIBCH):c.288C>T (p.Ala96=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002624407]	uncertain significance	2	190294562	190294562	Human	2	alternate_id
156444159	CV1937683	single nucleotide variant	NM_014362.4(HIBCH):c.951G>T (p.Gly317=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003115080]	likely benign	2	190213016	190213016	Human	2	alternate_id
156336343	CV1963958	deletion	NM_014362.4(HIBCH):c.751-5_751-2del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002580267]	uncertain significance	2	190246214	190246217	Human	2	alternate_id
156139930	CV1973554	single nucleotide variant	NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002593795]	uncertain significance	2	190205194	190205194	Human	2	alternate_id
156265316	CV1993893	single nucleotide variant	NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002646354]\|not provided [RCV003108126]	pathogenic	2	190261204	190261204	Human	2	alternate_id
155947675	CV1996455	single nucleotide variant	NM_014362.4(HIBCH):c.305-5C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002685838]	likely benign	2	190290490	190290490	Human	2	alternate_id
156101431	CV2009797	single nucleotide variant	NM_014362.4(HIBCH):c.222G>A (p.Lys74=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002706683]	uncertain significance	2	190294628	190294628	Human	2	alternate_id
156009409	CV2011367	single nucleotide variant	NM_014362.4(HIBCH):c.79-4A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002690433]	likely benign	2	190296957	190296957	Human	2	alternate_id
156396122	CV2012311	single nucleotide variant	NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002725562]	uncertain significance	2	190249678	190249678	Human	2	alternate_id
156359489	CV2016522	single nucleotide variant	NM_014362.4(HIBCH):c.891+16T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002720762]	likely benign	2	190244871	190244871	Human	2	alternate_id
155935907	CV2024033	single nucleotide variant	NM_014362.4(HIBCH):c.517+16T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002774865]	likely benign	2	190261140	190261140	Human	2	alternate_id
156224956	CV2037887	single nucleotide variant	NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002790776]\|Inborn genetic diseases [RCV002790777]	uncertain significance	2	190249698	190249698	Human	3	alternate_id
155941588	CV2038302	single nucleotide variant	NM_014362.4(HIBCH):c.594A>T (p.Thr198=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002775229]	uncertain significance	2	190252231	190252231	Human	2	alternate_id
156111531	CV2046998	single nucleotide variant	NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002761714]\|Inborn genetic diseases [RCV004632072]	uncertain significance	2	190213035	190213035	Human	3	alternate_id
10401362	CV205049	duplication	NM_014362.4(HIBCH):c.129dup (p.Gly44fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000190537]\|not provided [RCV001657966]	pathogenic\|likely pathogenic	2	190296902	190296903	Human	2	alternate_id
10401363	CV205050	single nucleotide variant	NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000190538]	pathogenic	2	190208892	190208892	Human	2	alternate_id
156378999	CV2050743	single nucleotide variant	NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002814938]	uncertain significance	2	190252209	190252209	Human	2	alternate_id
155997684	CV2057243	single nucleotide variant	NM_014362.4(HIBCH):c.438+4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002819500]	uncertain significance	2	190287582	190287582	Human	2	alternate_id
155932307	CV2067382	single nucleotide variant	NM_014362.4(HIBCH):c.79-9T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002838833]	likely benign	2	190296962	190296962	Human	2	alternate_id
155911207	CV2069489	single nucleotide variant	NM_014362.4(HIBCH):c.304+9T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002837730]	likely benign	2	190294537	190294537	Human	2	alternate_id
155999480	CV2074532	single nucleotide variant	NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002843338]	uncertain significance	2	190208880	190208880	Human	2	alternate_id
156226843	CV2081144	single nucleotide variant	NM_014362.4(HIBCH):c.663+14T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002853421]	likely benign	2	190252148	190252148	Human	2	alternate_id
156009550	CV2083278	single nucleotide variant	NM_014362.4(HIBCH):c.1012-19A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002866029]	likely benign	2	190208932	190208932	Human	2	alternate_id
155935607	CV2114123	single nucleotide variant	NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002904110]	uncertain significance	2	190208901	190208901	Human	2	alternate_id
156351543	CV2122426	duplication	NM_014362.4(HIBCH):c.1011+10dup	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002966335]	likely benign	2	190212945	190212946	Human	2	alternate_id
10408131	CV213970	duplication	NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000201262]\|not provided [RCV002510816]	pathogenic\|likely pathogenic	2	190205149	190205150	Human	2	alternate_id
155999731	CV2149259	single nucleotide variant	NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002996960]	uncertain significance	2	190294597	190294597	Human	2	alternate_id
155990045	CV2151217	single nucleotide variant	NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003016784]	uncertain significance	2	190205139	190205139	Human	2	alternate_id
155969000	CV2152407	single nucleotide variant	NM_014362.4(HIBCH):c.219G>A (p.Lys73=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003015841]	uncertain significance	2	190296813	190296813	Human	2	alternate_id
156060918	CV2155095	single nucleotide variant	NM_014362.4(HIBCH):c.664-2A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003000200]	likely pathogenic	2	190249728	190249728	Human	2	alternate_id
155997133	CV2168769	single nucleotide variant	NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003017104]	uncertain significance	2	190310776	190310776	Human	2	alternate_id
156284487	CV2172138	single nucleotide variant	NM_014362.4(HIBCH):c.831G>A (p.Val277=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003027435]	likely benign	2	190244947	190244947	Human	2	alternate_id
156356867	CV2188947	single nucleotide variant	NM_014362.4(HIBCH):c.60T>C (p.Asn20=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003048748]	likely benign	2	190310772	190310772	Human	2	alternate_id
156376815	CV2189053	single nucleotide variant	NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003050171]	uncertain significance	2	190310764	190310764	Human	2	alternate_id
11350849	CV237274	single nucleotide variant	NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001079577]\|HIBCH-related disorder [RCV004755816]\|not provided [RCV000224515]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	190246167	190246167	Human	2	alternate_id
243052929	CV2407704	single nucleotide variant	NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003131129]	uncertain significance	2	190290479	190290479	Human	2	alternate_id
243057344	CV2415080	single nucleotide variant	NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003146022]	likely pathogenic	2	190252269	190252269	Human	2	alternate_id
12912407	CV243978	single nucleotide variant	NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000491605]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	190287614	190287614	Human	2	alternate_id
404977846	CV2851654	indel	NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003486321]	likely pathogenic	2	190246202	190246203	Human		alternate_id
402510023	CV2854880	single nucleotide variant	NM_014362.4(HIBCH):c.664-18T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495540]	likely benign	2	190249744	190249744	Human	2	alternate_id
402515260	CV2911558	single nucleotide variant	NM_014362.4(HIBCH):c.78+17G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003496015]	likely benign	2	190310737	190310737	Human	2	alternate_id
402511881	CV2919442	single nucleotide variant	NM_014362.4(HIBCH):c.963C>G (p.Thr321=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495707]	likely benign	2	190213004	190213004	Human	2	alternate_id
405035275	CV2995292	single nucleotide variant	NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003602137]	likely benign	2	190205129	190205129	Human	2	alternate_id
405037450	CV3011892	deletion	NM_014362.4(HIBCH):c.664-16del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003602335]	benign	2	190249742	190249742	Human	2	alternate_id
405048667	CV3137910	single nucleotide variant	NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003831948]	pathogenic	2	190212967	190212967	Human	2	alternate_id
405208349	CV3145608	single nucleotide variant	NM_014362.4(HIBCH):c.663+13A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003845338]	likely benign	2	190252149	190252149	Human	2	alternate_id
405200448	CV3147210	single nucleotide variant	NM_014362.4(HIBCH):c.150A>G (p.Thr50=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003844370]	likely benign	2	190296882	190296882	Human	2	alternate_id
405002821	CV3184705	variation	HIBCH, CYS163PHE	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV003882763]	pathogenic				Human		alternate_id
405003227	CV3184706	deletion	HIBCH, 1-BP DEL, 852A	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV003882764]	pathogenic				Human	1	alternate_id
405866699	CV3401105	single nucleotide variant	NM_014362.4(HIBCH):c.644A>G (p.His215Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV004577221]	uncertain significance	2	190252181	190252181	Human	2	alternate_id
12835008	CV366235	single nucleotide variant	NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000956017]\|HIBCH-related disorder [RCV003912679]\|not provided [RCV004708855]\|not specified [RCV000420934]	pathogenic\|benign	2	190261185	190261185	Human	2	alternate_id
12838337	CV366237	single nucleotide variant	NM_014362.4(HIBCH):c.36-13A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002062749]\|not specified [RCV000426774]	likely benign	2	190310809	190310809	Human	2	alternate_id
12846342	CV366274	single nucleotide variant	NM_014362.4(HIBCH):c.1038T>A (p.Val346=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000966838]\|HIBCH-related disorder [RCV003902530]\|not provided [RCV004711064]\|not specified [RCV000441458]	benign\|likely benign	2	190208887	190208887	Human	2	alternate_id
12846036	CV366276	single nucleotide variant	NM_014362.4(HIBCH):c.438+9A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000970431]\|HIBCH-related disorder [RCV004755913]\|not provided [RCV001720266]	benign\|likely benign	2	190287577	190287577	Human	2	alternate_id
12834805	CV366277	single nucleotide variant	NM_014362.4(HIBCH):c.214C>T (p.Leu72=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000953184]\|not provided [RCV001200441]	benign\|likely benign	2	190296818	190296818	Human	2	alternate_id
12836210	CV366282	single nucleotide variant	NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001517776]\|not provided [RCV000676751]\|not specified [RCV000423009]	benign	2	190296896	190296896	Human	2	alternate_id
12837880	CV366800	single nucleotide variant	NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000946654]\|not provided [RCV004708851]\|not specified [RCV000425938]	benign	2	190249655	190249655	Human	2	alternate_id
12842046	CV366801	single nucleotide variant	NM_014362.4(HIBCH):c.663+19G>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002064922]\|not specified [RCV000433697]	benign\|likely benign	2	190252143	190252143	Human	2	alternate_id
12836606	CV366803	single nucleotide variant	NM_014362.4(HIBCH):c.517+15T>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001512151]\|not provided [RCV004708820]\|not specified [RCV000423700]	benign	2	190261141	190261141	Human	2	alternate_id
12845667	CV366807	single nucleotide variant	NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001509616]\|not provided [RCV000676752]\|not specified [RCV000440239]	benign	2	190319749	190319749	Human	3	alternate_id
12845667	CV366807	single nucleotide variant	NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001509616]\|not provided [RCV000676752]\|not specified [RCV000440239]	benign	2	190319749	190319750	Human	3	alternate_id
597888277	CV3739239	single nucleotide variant	NM_014362.4(HIBCH):c.850T>C (p.Leu284=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005070786]	likely benign	2	190244928	190244928	Human	2	alternate_id
597901313	CV3741342	single nucleotide variant	NM_014362.4(HIBCH):c.517+12G>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005072313]	likely benign	2	190261144	190261144	Human	2	alternate_id
597841060	CV3752737	single nucleotide variant	NM_014362.4(HIBCH):c.1090C>T (p.Leu364=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005086466]	likely benign	2	190205188	190205188	Human	2	alternate_id
597958074	CV3755245	single nucleotide variant	NM_014362.4(HIBCH):c.138G>A (p.Thr46=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005080915]	likely benign	2	190296894	190296894	Human	2	alternate_id
597961726	CV3756692	single nucleotide variant	NM_014362.4(HIBCH):c.312G>C (p.Ser104=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005081814]	likely benign	2	190290478	190290478	Human	2	alternate_id
597920281	CV3765097	single nucleotide variant	NM_014362.4(HIBCH):c.420T>A (p.His140Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005115114]	uncertain significance	2	190287604	190287604	Human	2	alternate_id
597876557	CV3766657	single nucleotide variant	NM_014362.4(HIBCH):c.664-7C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005108597]	likely benign	2	190249733	190249733	Human	2	alternate_id
597959348	CV3797543	single nucleotide variant	NM_014362.4(HIBCH):c.809+12G>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005138230]	likely benign	2	190246142	190246142	Human	2	alternate_id
597970562	CV3802001	single nucleotide variant	NM_014362.4(HIBCH):c.405T>C (p.Tyr135=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005141793]	likely benign	2	190287619	190287619	Human	2	alternate_id
597869992	CV3803559	single nucleotide variant	NM_014362.4(HIBCH):c.921A>G (p.Leu307=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005148157]	likely benign	2	190213046	190213046	Human	2	alternate_id
597953545	CV3808874	single nucleotide variant	NM_014362.4(HIBCH):c.1070C>A (p.Pro357Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005161792]	uncertain significance	2	190205208	190205208	Human	2	alternate_id
597920800	CV3842798	single nucleotide variant	NM_014362.4(HIBCH):c.1046-15A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005184283]	likely benign	2	190205247	190205247	Human	2	alternate_id
597938690	CV3852886	single nucleotide variant	NM_014362.4(HIBCH):c.891+9G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005187287]	likely benign	2	190244878	190244878	Human	2	alternate_id
598202138	CV3892922	deletion	NM_014362.4(HIBCH):c.12_35del (p.Glu5_Arg12del)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255248]	likely pathogenic	2	190319716	190319739	Human	2	alternate_id
598202132	CV3892923	single nucleotide variant	NM_014362.4(HIBCH):c.536G>A (p.Gly179Asp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255249]	likely pathogenic	2	190252289	190252289	Human	2	alternate_id
598202000	CV3892943	single nucleotide variant	NM_014362.4(HIBCH):c.488G>A (p.Cys163Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255269]	likely pathogenic	2	190261185	190261185	Human	2	alternate_id
598198719	CV4007217	single nucleotide variant	NM_014362.4(HIBCH):c.10C>T (p.Arg4Cys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005398045]	likely benign	2	190319741	190319741	Human	2	alternate_id
598198726	CV4007218	deletion	NM_014362.4(HIBCH):c.494_495del (p.Phe165fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005398046]	likely pathogenic	2	190261178	190261179	Human	2	alternate_id
12893945	CV405524	single nucleotide variant	NM_014362.4(HIBCH):c.809+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000607054]\|not provided [RCV000480908]	pathogenic\|likely pathogenic	2	190246153	190246153	Human	2	alternate_id
12900664	CV405525	microsatellite	NM_014362.4(HIBCH):c.35+8AG[2]	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495135]\|not specified [RCV000482897]	benign\|likely benign	2	190319703	190319704	Human		alternate_id
12913300	CV421351	deletion	NM_014362.4(HIBCH):c.852del (p.Leu284fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001195536]\|not provided [RCV000493651]	pathogenic\|likely pathogenic	2	190244926	190244926	Human	2	alternate_id
12912901	CV421352	single nucleotide variant	NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003114621]\|not provided [RCV000493154]	pathogenic\|likely pathogenic	2	190261185	190261185	Human	2	alternate_id
13508756	CV481398	single nucleotide variant	NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000578248]\|Inborn genetic diseases [RCV002530365]	likely pathogenic\|uncertain significance	2	190244948	190244948	Human	3	alternate_id
13508778	CV481399	single nucleotide variant	NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000578336]	likely pathogenic	2	190296820	190296820	Human	2	alternate_id
13526190	CV499462	deletion	NM_014362.4(HIBCH):c.385+11del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001519360]\|not specified [RCV000603794]	benign	2	190290394	190290394	Human	2	alternate_id
13529601	CV499680	single nucleotide variant	NM_014362.4(HIBCH):c.957A>G (p.Ser319=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000884219]\|not specified [RCV000600369]	benign\|likely benign	2	190213010	190213010	Human	2	alternate_id
13541502	CV499689	single nucleotide variant	NM_014362.4(HIBCH):c.438+19C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002529671]\|not specified [RCV000616245]	likely benign	2	190287567	190287567	Human	2	alternate_id
13533796	CV499696	single nucleotide variant	NM_014362.4(HIBCH):c.243T>G (p.Thr81=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000969163]\|not provided [RCV003432651]\|not specified [RCV000601765]	benign\|likely benign	2	190294607	190294607	Human	2	alternate_id
13529606	CV499852	single nucleotide variant	NM_014362.4(HIBCH):c.1012-10T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002528803]\|not specified [RCV000605801]	likely benign\|uncertain significance	2	190208923	190208923	Human	2	alternate_id
13537711	CV499864	single nucleotide variant	NM_014362.4(HIBCH):c.438+11T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002532804]\|not specified [RCV000610780]	likely benign	2	190287575	190287575	Human	2	alternate_id
14741599	CV629237	single nucleotide variant	NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000822310]	uncertain significance	2	190205225	190205225	Human	2	alternate_id
14718793	CV629238	single nucleotide variant	NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000795907]\|Inborn genetic diseases [RCV002537013]	uncertain significance	2	190246169	190246169	Human	3	alternate_id
14709007	CV629239	deletion	NM_014362.4(HIBCH):c.609del (p.Gly204fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000810904]\|HIBCH-related disorder [RCV003413630]	pathogenic\|likely pathogenic	2	190252216	190252216	Human	2	alternate_id
14716872	CV629240	single nucleotide variant	NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000795254]\|Inborn genetic diseases [RCV004629328]	uncertain significance	2	190294612	190294612	Human	3	alternate_id
14709267	CV658745	single nucleotide variant	NM_014362.4(HIBCH):c.1011+11A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002062211]\|not provided [RCV000827387]	benign\|likely benign	2	190212945	190212945	Human	2	alternate_id
14978474	CV677411	single nucleotide variant	NM_014362.4(HIBCH):c.517+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000850559]	pathogenic	2	190261155	190261155	Human	2	alternate_id
15148598	CV730094	single nucleotide variant	NM_014362.4(HIBCH):c.79-7T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000878992]\|not provided [RCV003438549]	likely benign	2	190296960	190296960	Human	2	alternate_id
15135112	CV733029	single nucleotide variant	NM_014362.4(HIBCH):c.885A>G (p.Gln295=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002065654]\|HIBCH-related disorder [RCV003950512]	likely benign	2	190244893	190244893	Human	2	alternate_id
15116521	CV743857	single nucleotide variant	NM_014362.4(HIBCH):c.35+10A>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000895216]	likely benign	2	190319706	190319706	Human	2	alternate_id
15120331	CV781100	single nucleotide variant	NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001479198]	likely benign	2	190205230	190205230	Human	2	alternate_id
15173923	CV789112	single nucleotide variant	NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000984514]	uncertain significance	2	190296850	190296850	Human	2	alternate_id
38494046	CV952868	single nucleotide variant	NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001241076]	conflicting interpretations of pathogenicity\|uncertain significance	2	190294624	190294624	Human	2	alternate_id
38463610	CV961231	single nucleotide variant	NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001249211]	pathogenic	2	190244943	190244943	Human	2	alternate_id
38463605	CV961232	single nucleotide variant	NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001249210]\|not provided [RCV004727047]	likely pathogenic	2	190261216	190261216	Human	2	alternate_id
38465608	CV961752	single nucleotide variant	NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250100]	uncertain significance	2	190246173	190246173	Human	2	alternate_id
38465326	CV961753	single nucleotide variant	NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250109]	pathogenic	2	190246200	190246200	Human	2	alternate_id
38465333	CV961754	single nucleotide variant	NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250111]	likely benign	2	190252193	190252193	Human	2	alternate_id
38465331	CV961755	single nucleotide variant	NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250110]	likely benign	2	190287596	190287596	Human	2	alternate_id
38465287	CV961756	single nucleotide variant	NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250091]	conflicting interpretations of pathogenicity\|uncertain significance	2	190290437	190290437	Human	2	alternate_id
40889812	CV975017	single nucleotide variant	NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005094281]\|not provided [RCV001268287]	pathogenic\|likely pathogenic	2	190213054	190213054	Human	2	alternate_id
598254752	CV3928203	single nucleotide variant	NM_014828.4(TOX4):c.8T>G (p.Phe3Cys)	not specified [RCV005278492]	uncertain significance	14	21477497	21477497	Human		name
401886293	CV2771722	single nucleotide variant	NM_014828.4(TOX4):c.55C>G (p.Pro19Ala)	not specified [RCV004350507]	uncertain significance	14	21477544	21477544	Human		name
155923776	CV2280378	single nucleotide variant	NM_014828.4(TOX4):c.122C>A (p.Pro41His)	not specified [RCV004140564]	uncertain significance	14	21487497	21487497	Human		name
156395820	CV2325943	single nucleotide variant	NM_014828.4(TOX4):c.214A>C (p.Ser72Arg)	not specified [RCV004174114]	uncertain significance	14	21487589	21487589	Human		name
597787331	CV3611097	single nucleotide variant	NM_014828.4(TOX4):c.109T>C (p.Phe37Leu)	not specified [RCV004875575]	uncertain significance	14	21487484	21487484	Human		name
155956286	CV2281904	single nucleotide variant	NM_014828.4(TOX4):c.865G>A (p.Ala289Thr)	not specified [RCV004138682]	uncertain significance	14	21492350	21492350	Human		name
156273991	CV2293731	single nucleotide variant	NM_014828.4(TOX4):c.601G>A (p.Val201Ile)	not specified [RCV004155018]	uncertain significance	14	21489194	21489194	Human		name
156267456	CV2305045	single nucleotide variant	NM_014828.4(TOX4):c.655G>A (p.Asp219Asn)	not specified [RCV004168931]	uncertain significance	14	21489248	21489248	Human		name
156068674	CV2341062	single nucleotide variant	NM_014828.4(TOX4):c.994A>G (p.Ile332Val)	not specified [RCV004181545]	uncertain significance	14	21492610	21492610	Human		name
156079364	CV2341250	single nucleotide variant	NM_001098797.2(TOX2):c.19C>T (p.Pro7Ser)	not specified [RCV004186663]	uncertain significance	20	43914910	43914910	Human		name
401768599	CV2675477	single nucleotide variant	NM_014828.4(TOX4):c.515G>C (p.Arg172Pro)	not specified [RCV004292269]	uncertain significance	14	21488786	21488786	Human		name
401768136	CV2727393	single nucleotide variant	NM_014828.4(TOX4):c.524C>A (p.Thr175Asn)	not specified [RCV004327490]	uncertain significance	14	21488795	21488795	Human		name
401872617	CV2779825	single nucleotide variant	NM_001080430.4(TOX3):c.17A>G (p.Tyr6Cys)	not specified [RCV004353451]	uncertain significance	16	52546707	52546707	Human		name
401891759	CV2780735	single nucleotide variant	NM_014828.4(TOX4):c.334A>G (p.Ile112Val)	not specified [RCV004352068]	uncertain significance	14	21488605	21488605	Human		name
401888303	CV2788286	single nucleotide variant	NM_014828.4(TOX4):c.946C>T (p.Pro316Ser)	not specified [RCV004352875]	uncertain significance	14	21492562	21492562	Human		name
405758608	CV3347118	single nucleotide variant	NM_001098797.2(TOX2):c.25G>T (p.Ala9Ser)	not specified [RCV004468218]	uncertain significance	20	43914916	43914916	Human		name
405758644	CV3347124	single nucleotide variant	NM_001080430.4(TOX3):c.12G>C (p.Arg4Ser)	not specified [RCV004468224]	uncertain significance	16	52546712	52546712	Human		name
405758726	CV3347137	single nucleotide variant	NM_014828.4(TOX4):c.335T>C (p.Ile112Thr)	not specified [RCV004468237]	uncertain significance	14	21488606	21488606	Human		name
405758732	CV3347138	single nucleotide variant	NM_014828.4(TOX4):c.476G>C (p.Gly159Ala)	not specified [RCV004468238]	uncertain significance	14	21488747	21488747	Human		name
407521114	CV3486858	single nucleotide variant	NM_014828.4(TOX4):c.575G>T (p.Arg192Leu)	not specified [RCV004677181]	uncertain significance	14	21488846	21488846	Human		name
407521118	CV3486860	single nucleotide variant	NM_014828.4(TOX4):c.595A>C (p.Lys199Gln)	not specified [RCV004677183]	uncertain significance	14	21489188	21489188	Human		name
597787323	CV3611095	single nucleotide variant	NM_014828.4(TOX4):c.368C>A (p.Thr123Lys)	not specified [RCV004875573]	uncertain significance	14	21488639	21488639	Human		name
597787329	CV3611096	single nucleotide variant	NM_014828.4(TOX4):c.370A>G (p.Ile124Val)	not specified [RCV004875574]	uncertain significance	14	21488641	21488641	Human		name
598188668	CV3928199	single nucleotide variant	NM_014828.4(TOX4):c.515G>A (p.Arg172His)	not specified [RCV005287969]	uncertain significance	14	21488786	21488786	Human		name
155979708	CV2222911	single nucleotide variant	NM_014828.4(TOX4):c.1633G>A (p.Val545Ile)	not specified [RCV004101725]	uncertain significance	14	21493249	21493249	Human		name
155984318	CV2273175	single nucleotide variant	NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser)	not specified [RCV004137806]	uncertain significance	14	21495368	21495368	Human		name
156254979	CV2280936	single nucleotide variant	NM_001080430.4(TOX3):c.44G>T (p.Ser15Ile)	not specified [RCV004145176]	uncertain significance	16	52546680	52546680	Human		name
155997992	CV2287096	single nucleotide variant	NM_014828.4(TOX4):c.1325G>A (p.Arg442Gln)	not specified [RCV004144970]	uncertain significance	14	21492941	21492941	Human		name
156004384	CV2290157	single nucleotide variant	NM_014828.4(TOX4):c.1424C>T (p.Pro475Leu)	not specified [RCV004152820]	uncertain significance	14	21493040	21493040	Human		name
155955035	CV2302329	single nucleotide variant	NM_014828.4(TOX4):c.1286C>T (p.Ala429Val)	not specified [RCV004161088]	uncertain significance	14	21492902	21492902	Human		name
156303281	CV2331815	single nucleotide variant	NM_014828.4(TOX4):c.1141A>G (p.Met381Val)	not specified [RCV004184430]	uncertain significance	14	21492757	21492757	Human		name
156171477	CV2337515	single nucleotide variant	NM_014828.4(TOX4):c.1541G>A (p.Ser514Asn)	not specified [RCV004187945]	uncertain significance	14	21493157	21493157	Human		name
155984234	CV2344394	single nucleotide variant	NM_014828.4(TOX4):c.1051G>A (p.Val351Met)	not specified [RCV004195145]	uncertain significance	14	21492667	21492667	Human		name
155910756	CV2366628	single nucleotide variant	NM_014828.4(TOX4):c.1315C>G (p.Pro439Ala)	not specified [RCV004210641]	uncertain significance	14	21492931	21492931	Human		name
155999363	CV2378577	single nucleotide variant	NM_014828.4(TOX4):c.1553G>A (p.Arg518Gln)	not specified [RCV004229012]	likely benign	14	21493169	21493169	Human		name
156041078	CV2384410	single nucleotide variant	NM_014828.4(TOX4):c.1547C>G (p.Pro516Arg)	not specified [RCV004229828]	uncertain significance	14	21493163	21493163	Human		name
329374486	CV2443681	single nucleotide variant	NM_014828.4(TOX4):c.1558A>G (p.Met520Val)	not specified [RCV004255983]	likely benign	14	21493174	21493174	Human		name
401734720	CV2688600	single nucleotide variant	NM_014828.4(TOX4):c.1610T>C (p.Ile537Thr)	not specified [RCV004301556]	uncertain significance	14	21493226	21493226	Human		name
401756908	CV2696645	single nucleotide variant	NM_001080430.4(TOX3):c.43A>G (p.Ser15Gly)	not specified [RCV004312662]	likely benign	16	52546681	52546681	Human		name
401780527	CV2716818	single nucleotide variant	NM_014828.4(TOX4):c.1091A>G (p.Asn364Ser)	not specified [RCV004329634]	uncertain significance	14	21492707	21492707	Human		name
405758685	CV3347130	single nucleotide variant	NM_014828.4(TOX4):c.1242A>C (p.Gln414His)	not specified [RCV004468230]	uncertain significance	14	21492858	21492858	Human		name
405758697	CV3347132	single nucleotide variant	NM_014828.4(TOX4):c.1552C>G (p.Arg518Gly)	not specified [RCV004468232]	uncertain significance	14	21493168	21493168	Human		name
405758704	CV3347133	single nucleotide variant	NM_014828.4(TOX4):c.1580A>G (p.His527Arg)	not specified [RCV004468233]	uncertain significance	14	21493196	21493196	Human		name
405758710	CV3347134	single nucleotide variant	NM_014828.4(TOX4):c.1655C>T (p.Ser552Phe)	not specified [RCV004468234]	uncertain significance	14	21495242	21495242	Human		name
405758721	CV3347136	single nucleotide variant	NM_014828.4(TOX4):c.1712G>A (p.Arg571Gln)	not specified [RCV004468236]	uncertain significance	14	21495299	21495299	Human		name
407521108	CV3486856	single nucleotide variant	NM_014828.4(TOX4):c.1442G>T (p.Arg481Leu)	not specified [RCV004677179]	uncertain significance	14	21493058	21493058	Human		name
407521111	CV3486857	single nucleotide variant	NM_014828.4(TOX4):c.1449T>G (p.Asn483Lys)	not specified [RCV004677180]	uncertain significance	14	21493065	21493065	Human		name
407521117	CV3486859	single nucleotide variant	NM_014828.4(TOX4):c.1315C>T (p.Pro439Ser)	not specified [RCV004677182]	uncertain significance	14	21492931	21492931	Human		name
597787267	CV3611080	single nucleotide variant	NM_001098797.2(TOX2):c.94G>A (p.Gly32Ser)	not specified [RCV004875558]	uncertain significance	20	43914985	43914985	Human		name
597787321	CV3611094	single nucleotide variant	NM_014828.4(TOX4):c.1262G>A (p.Arg421Gln)	not specified [RCV004875572]	uncertain significance	14	21492878	21492878	Human		name
597787335	CV3611098	single nucleotide variant	NM_014828.4(TOX4):c.1514C>G (p.Thr505Ser)	not specified [RCV004875576]	uncertain significance	14	21493130	21493130	Human		name
597787340	CV3611099	single nucleotide variant	NM_014828.4(TOX4):c.1825G>A (p.Val609Ile)	not specified [RCV004875577]	uncertain significance	14	21496565	21496565	Human		name
598188661	CV3928197	single nucleotide variant	NM_014828.4(TOX4):c.1637C>A (p.Pro546His)	not specified [RCV005287968]	uncertain significance	14	21493253	21493253	Human		name
598254730	CV3928198	single nucleotide variant	NM_014828.4(TOX4):c.1382C>G (p.Thr461Ser)	not specified [RCV005278489]	uncertain significance	14	21492998	21492998	Human		name
598254736	CV3928200	single nucleotide variant	NM_014828.4(TOX4):c.1145C>A (p.Ser382Tyr)	not specified [RCV005278490]	uncertain significance	14	21492761	21492761	Human		name
598254744	CV3928202	single nucleotide variant	NM_014828.4(TOX4):c.1739C>T (p.Pro580Leu)	not specified [RCV005278491]	uncertain significance	14	21495326	21495326	Human		name
8637319	CV92545	single nucleotide variant	NM_001098798.1(TOX2):c.43C>T (p.Arg15Cys)	Malignant melanoma [RCV000072643]	not provided	20	43945955	43945955	Human		name
156135887	CV2213520	single nucleotide variant	NM_001080430.4(TOX3):c.229C>T (p.Pro77Ser)	not specified [RCV004087484]	uncertain significance	16	52464113	52464113	Human		name
155923545	CV2217664	single nucleotide variant	NM_001098797.2(TOX2):c.233C>T (p.Pro78Leu)	not specified [RCV004090173]	uncertain significance	20	44006614	44006614	Human		name
156028015	CV2238189	single nucleotide variant	NM_001098797.2(TOX2):c.101T>C (p.Phe34Ser)	not specified [RCV004111494]	uncertain significance	20	43973368	43973368	Human		name
156287674	CV2370544	single nucleotide variant	NM_001098797.2(TOX2):c.112A>G (p.Ser38Gly)	not specified [RCV004215878]	uncertain significance	20	43973379	43973379	Human		name
329359953	CV2462202	single nucleotide variant	NM_001080430.4(TOX3):c.293A>G (p.Gln98Arg)	not specified [RCV004266210]	uncertain significance	16	52464049	52464049	Human		name
405758603	CV3347117	single nucleotide variant	NM_001098797.2(TOX2):c.157A>G (p.Thr53Ala)	not specified [RCV004468217]	uncertain significance	20	43973424	43973424	Human		name
407521093	CV3486851	single nucleotide variant	NM_001080430.4(TOX3):c.249T>A (p.Asp83Glu)	not specified [RCV004677174]	uncertain significance	16	52464093	52464093	Human		name
597787275	CV3611082	single nucleotide variant	NM_001098797.2(TOX2):c.143C>T (p.Pro48Leu)	not specified [RCV004875560]	uncertain significance	20	43973410	43973410	Human		name
597787290	CV3611086	single nucleotide variant	NM_001080430.4(TOX3):c.125C>T (p.Ala42Val)	not specified [RCV004875564]	uncertain significance	16	52468537	52468537	Human		name
598127170	CV3888051	single nucleotide variant	NM_001098797.2(TOX2):c.1107C>G (p.Ser369=)	not provided [RCV005242737]	likely benign	20	44065858	44065858	Human		name
598127172	CV3888052	single nucleotide variant	NM_001098797.2(TOX2):c.1125G>C (p.Arg375=)	not provided [RCV005242738]	likely benign	20	44065876	44065876	Human		name
598188602	CV3928187	single nucleotide variant	NM_001098797.2(TOX2):c.212C>T (p.Pro71Leu)	not specified [RCV005287960]	uncertain significance	20	44006593	44006593	Human		name
15200730	CV703734	single nucleotide variant	NM_001080430.4(TOX3):c.1149C>T (p.Ile383=)	not provided [RCV000957414]	benign	16	52439807	52439807	Human		name
156401614	CV2207470	single nucleotide variant	NM_001098797.2(TOX2):c.409A>G (p.Thr137Ala)	not specified [RCV004089952]	uncertain significance	20	44006790	44006790	Human		name
156262193	CV2216537	single nucleotide variant	NM_001098797.2(TOX2):c.540G>A (p.Met180Ile)	not specified [RCV004097325]	uncertain significance	20	44051434	44051434	Human		name
155926166	CV2258702	single nucleotide variant	NM_001080430.4(TOX3):c.697G>C (p.Ala233Pro)	not specified [RCV004117943]	uncertain significance	16	52446203	52446203	Human		name
156146005	CV2265091	single nucleotide variant	NM_001098797.2(TOX2):c.544A>G (p.Ile182Val)	not specified [RCV004126236]	uncertain significance	20	44051438	44051438	Human		name
156154999	CV2266113	single nucleotide variant	NM_001098797.2(TOX2):c.386A>G (p.His129Arg)	not specified [RCV004128706]	uncertain significance	20	44006767	44006767	Human		name
156059890	CV2284367	single nucleotide variant	NM_001098797.2(TOX2):c.710A>G (p.Lys237Arg)	not specified [RCV004146709]	uncertain significance	20	44054357	44054357	Human		name
156053050	CV2329064	single nucleotide variant	NM_001080430.4(TOX3):c.919A>G (p.Lys307Glu)	not specified [RCV004180338]	uncertain significance	16	52444344	52444344	Human		name
156083629	CV2330711	single nucleotide variant	NM_001080430.4(TOX3):c.464G>A (p.Arg155Gln)	not specified [RCV004185780]	uncertain significance	16	52450491	52450491	Human		name
156043375	CV2381544	single nucleotide variant	NM_001098797.2(TOX2):c.670C>T (p.Pro224Ser)	not specified [RCV004230016]	uncertain significance	20	44054317	44054317	Human		name
329391403	CV2452310	single nucleotide variant	NM_001098797.2(TOX2):c.547C>T (p.Arg183Trp)	not specified [RCV004278987]	uncertain significance	20	44051441	44051441	Human		name
329368132	CV2457074	single nucleotide variant	NM_001098797.2(TOX2):c.826G>A (p.Val276Met)	not specified [RCV004264858]	uncertain significance	20	44054473	44054473	Human		name
401757521	CV2675352	single nucleotide variant	NM_001098797.2(TOX2):c.307G>A (p.Gly103Ser)	not specified [RCV004292160]	uncertain significance	20	44006688	44006688	Human		name
401755658	CV2682545	single nucleotide variant	NM_001080430.4(TOX3):c.836A>T (p.Asn279Ile)	not specified [RCV004290557]	uncertain significance	16	52446064	52446064	Human		name
401772512	CV2687717	single nucleotide variant	NM_001080430.4(TOX3):c.443A>G (p.Gln148Arg)	not specified [RCV004302706]	uncertain significance	16	52450512	52450512	Human		name
405758613	CV3347119	single nucleotide variant	NM_001098797.2(TOX2):c.529A>T (p.Ile177Phe)	not specified [RCV004468219]	uncertain significance	20	44051423	44051423	Human		name
405758619	CV3347120	single nucleotide variant	NM_001098797.2(TOX2):c.548G>A (p.Arg183Gln)	not specified [RCV004468220]	uncertain significance	20	44051442	44051442	Human		name
405758624	CV3347121	single nucleotide variant	NM_001098797.2(TOX2):c.656C>T (p.Ser219Leu)	not specified [RCV004468221]	uncertain significance	20	44054303	44054303	Human		name
405758668	CV3347128	single nucleotide variant	NM_001080430.4(TOX3):c.494G>A (p.Arg165His)	not specified [RCV004468228]	uncertain significance	16	52450461	52450461	Human		name
407521083	CV3486847	single nucleotide variant	NM_001098797.2(TOX2):c.635C>T (p.Ser212Leu)	not specified [RCV004677170]	uncertain significance	20	44051529	44051529	Human		name
407521089	CV3486849	single nucleotide variant	NM_001080430.4(TOX3):c.874A>G (p.Met292Val)	not specified [RCV004677172]	uncertain significance	16	52446026	52446026	Human		name
407521102	CV3486854	single nucleotide variant	NM_001080430.4(TOX3):c.584T>C (p.Met195Thr)	not specified [RCV004677177]	uncertain significance	16	52450371	52450371	Human		name
597787271	CV3611081	single nucleotide variant	NM_001098797.2(TOX2):c.463G>A (p.Gly155Arg)	not specified [RCV004875559]	uncertain significance	20	44051357	44051357	Human		name
597787282	CV3611084	single nucleotide variant	NM_001098797.2(TOX2):c.568T>C (p.Ser190Pro)	not specified [RCV004875562]	uncertain significance	20	44051462	44051462	Human		name
597787286	CV3611085	single nucleotide variant	NM_001098797.2(TOX2):c.665A>C (p.Lys222Thr)	not specified [RCV004875563]	uncertain significance	20	44054312	44054312	Human		name
597787302	CV3611089	single nucleotide variant	NM_001080430.4(TOX3):c.404A>G (p.His135Arg)	not specified [RCV004875567]	uncertain significance	16	52463938	52463938	Human		name
597787306	CV3611090	single nucleotide variant	NM_001080430.4(TOX3):c.905A>G (p.Gln302Arg)	not specified [RCV004875568]	uncertain significance	16	52445995	52445995	Human		name
597787312	CV3611092	single nucleotide variant	NM_001080430.4(TOX3):c.836A>G (p.Asn279Ser)	not specified [RCV004875570]	uncertain significance	16	52446064	52446064	Human		name
597787316	CV3611093	single nucleotide variant	NM_001080430.4(TOX3):c.664G>T (p.Asp222Tyr)	not specified [RCV004875571]	uncertain significance	16	52450291	52450291	Human		name
598188609	CV3928188	single nucleotide variant	NM_001098797.2(TOX2):c.446A>G (p.Tyr149Cys)	not specified [RCV005287961]	uncertain significance	20	44051340	44051340	Human		name
598188616	CV3928189	single nucleotide variant	NM_001098797.2(TOX2):c.665A>G (p.Lys222Arg)	not specified [RCV005287962]	uncertain significance	20	44054312	44054312	Human		name
598254715	CV3928190	single nucleotide variant	NM_001098797.2(TOX2):c.596C>A (p.Ala199Glu)	not specified [RCV005278487]	uncertain significance	20	44051490	44051490	Human		name
598188647	CV3928195	single nucleotide variant	NM_001080430.4(TOX3):c.308C>T (p.Thr103Ile)	not specified [RCV005287966]	uncertain significance	16	52464034	52464034	Human		name
13798473	CV551335	single nucleotide variant	NM_001098797.2(TOX2):c.666G>T (p.Lys222Asn)	not provided [RCV000678388]	uncertain significance	20	44054313	44054313	Human		name
15165052	CV705498	single nucleotide variant	NM_001098797.2(TOX2):c.421A>G (p.Met141Val)	not provided [RCV000948496]	likely benign	20	44051315	44051315	Human		name
15197941	CV726676	single nucleotide variant	NM_001080430.4(TOX3):c.550G>A (p.Ala184Thr)	not provided [RCV000890211]	benign	16	52450405	52450405	Human		name
8635837	CV91060	single nucleotide variant	NM_001146188.1(TOX3):c.344G>A (p.Arg115Lys)	Malignant melanoma [RCV000071158]	not provided	16	52463983	52463983	Human		name
156313778	CV2196551	single nucleotide variant	NM_001080430.4(TOX3):c.1286C>T (p.Ser429Phe)	not specified [RCV004073836]	uncertain significance	16	52439670	52439670	Human		name
156072906	CV2201370	single nucleotide variant	NM_001098797.2(TOX2):c.1175C>T (p.Pro392Leu)	not specified [RCV004077493]	uncertain significance	20	44065926	44065926	Human		name
156069040	CV2237095	single nucleotide variant	NM_001098797.2(TOX2):c.1429A>C (p.Ser477Arg)	not specified [RCV004114852]	uncertain significance	20	44066802	44066802	Human		name
155989172	CV2259665	single nucleotide variant	NM_001080430.4(TOX3):c.1710A>T (p.Leu570Phe)	not specified [RCV004116698]	uncertain significance	16	52439246	52439246	Human		name
156100651	CV2260273	single nucleotide variant	NM_001098797.2(TOX2):c.1255C>A (p.Pro419Thr)	not specified [RCV004129376]	uncertain significance	20	44066006	44066006	Human		name
155905740	CV2303171	single nucleotide variant	NM_001080430.4(TOX3):c.1058C>T (p.Thr353Ile)	not specified [RCV004156936]	uncertain significance	16	52439898	52439898	Human		name
156359668	CV2328264	single nucleotide variant	NM_001098797.2(TOX2):c.1046T>C (p.Met349Thr)	not specified [RCV004173348]	uncertain significance	20	44065797	44065797	Human		name
156003538	CV2357468	single nucleotide variant	NM_001098797.2(TOX2):c.1228C>T (p.Pro410Ser)	not specified [RCV004202756]	uncertain significance	20	44065979	44065979	Human		name
156307149	CV2369607	single nucleotide variant	NM_001080430.4(TOX3):c.1213G>A (p.Ala405Thr)	not specified [RCV004215019]	uncertain significance	16	52439743	52439743	Human		name
155927361	CV2396124	single nucleotide variant	NM_001098797.2(TOX2):c.1427G>T (p.Ser476Ile)	not specified [RCV004237655]	uncertain significance	20	44066800	44066800	Human		name
329400284	CV2437571	single nucleotide variant	NM_001080430.4(TOX3):c.1622C>G (p.Thr541Arg)	not specified [RCV004258854]	uncertain significance	16	52439334	52439334	Human		name
329377738	CV2450010	single nucleotide variant	NM_001080430.4(TOX3):c.1452C>A (p.His484Gln)	not specified [RCV004269068]	uncertain significance	16	52439504	52439504	Human		name
401721074	CV2673591	single nucleotide variant	NM_001080430.4(TOX3):c.1624T>A (p.Ser542Thr)	not specified [RCV004282329]	uncertain significance	16	52439332	52439332	Human		name
401745967	CV2678741	single nucleotide variant	NM_001098797.2(TOX2):c.1045A>C (p.Met349Leu)	not specified [RCV004292737]	uncertain significance	20	44065796	44065796	Human		name
401754887	CV2682326	single nucleotide variant	NM_001080430.4(TOX3):c.1217A>G (p.Asn406Ser)	not specified [RCV004290364]	uncertain significance	16	52439739	52439739	Human		name
401743202	CV2684041	single nucleotide variant	NM_001080430.4(TOX3):c.1526A>T (p.Gln509Leu)	not specified [RCV004295645]	uncertain significance	16	52439430	52439430	Human		name
401771003	CV2686136	single nucleotide variant	NM_001080430.4(TOX3):c.1676C>T (p.Ser559Leu)	not specified [RCV004297142]	uncertain significance	16	52439280	52439280	Human		name
401770457	CV2707223	single nucleotide variant	NM_001098797.2(TOX2):c.1190C>T (p.Pro397Leu)	not specified [RCV004310852]	uncertain significance	20	44065941	44065941	Human		name
401768669	CV2716691	single nucleotide variant	NM_001080430.4(TOX3):c.1523A>T (p.Gln508Leu)	not specified [RCV004327742]	uncertain significance	16	52439433	52439433	Human		name
401867864	CV2767099	single nucleotide variant	NM_001098797.2(TOX2):c.1123C>T (p.Arg375Trp)	not specified [RCV004347500]	uncertain significance	20	44065874	44065874	Human		name
401891828	CV2779483	single nucleotide variant	NM_001080430.4(TOX3):c.1226C>T (p.Ser409Leu)	not specified [RCV004351112]	uncertain significance	16	52439730	52439730	Human		name
405758592	CV3347115	single nucleotide variant	NM_001098797.2(TOX2):c.1073C>T (p.Pro358Leu)	not specified [RCV004468215]	uncertain significance	20	44065824	44065824	Human		name
405758597	CV3347116	single nucleotide variant	NM_001098797.2(TOX2):c.1139A>T (p.Lys380Met)	not specified [RCV004468216]	uncertain significance	20	44065890	44065890	Human		name
405758633	CV3347122	single nucleotide variant	NM_001080430.4(TOX3):c.1185C>A (p.Asn395Lys)	not specified [RCV004468222]	uncertain significance	16	52439771	52439771	Human		name
405758638	CV3347123	single nucleotide variant	NM_001080430.4(TOX3):c.1238C>A (p.Ala413Asp)	not specified [RCV004468223]	uncertain significance	16	52439718	52439718	Human		name
405758651	CV3347125	single nucleotide variant	NM_001080430.4(TOX3):c.1368G>C (p.Met456Ile)	not specified [RCV004468225]	uncertain significance	16	52439588	52439588	Human		name
405758654	CV3347126	single nucleotide variant	NM_001080430.4(TOX3):c.1538G>A (p.Arg513His)	not specified [RCV004468226]	likely benign	16	52439418	52439418	Human		name
405758662	CV3347127	single nucleotide variant	NM_001080430.4(TOX3):c.1658C>T (p.Ala553Val)	not specified [RCV004468227]	uncertain significance	16	52439298	52439298	Human		name
407461147	CV3486846	single nucleotide variant	NM_001098797.2(TOX2):c.1465T>C (p.Cys489Arg)	not specified [RCV004687579]	uncertain significance	20	44066838	44066838	Human		name
407521086	CV3486848	single nucleotide variant	NM_001098797.2(TOX2):c.1336C>T (p.Pro446Ser)	not specified [RCV004677171]	uncertain significance	20	44066087	44066087	Human		name
407521092	CV3486850	single nucleotide variant	NM_001080430.4(TOX3):c.1499A>G (p.Gln500Arg)	not specified [RCV004677173]	uncertain significance	16	52439457	52439457	Human		name
407521096	CV3486852	single nucleotide variant	NM_001080430.4(TOX3):c.1661C>G (p.Ser554Cys)	not specified [RCV004677175]	uncertain significance	16	52439295	52439295	Human		name
407521105	CV3486855	single nucleotide variant	NM_001080430.4(TOX3):c.1094A>G (p.His365Arg)	not specified [RCV004677178]	uncertain significance	16	52439862	52439862	Human		name
597787294	CV3611087	single nucleotide variant	NM_001080430.4(TOX3):c.1022G>A (p.Arg341His)	not specified [RCV004875565]	uncertain significance	16	52439934	52439934	Human		name
597787298	CV3611088	single nucleotide variant	NM_001080430.4(TOX3):c.1642G>A (p.Gly548Arg)	not specified [RCV004875566]	uncertain significance	16	52439314	52439314	Human		name
597787309	CV3611091	single nucleotide variant	NM_001080430.4(TOX3):c.1093C>T (p.His365Tyr)	not specified [RCV004875569]	uncertain significance	16	52439863	52439863	Human		name
598188594	CV3928186	single nucleotide variant	NM_001098797.2(TOX2):c.1163C>T (p.Ala388Val)	not specified [RCV005287959]	uncertain significance	20	44065914	44065914	Human		name
598254720	CV3928191	single nucleotide variant	NM_001080430.4(TOX3):c.1052A>G (p.Asn351Ser)	not specified [RCV005278488]	uncertain significance	16	52439904	52439904	Human		name
598188630	CV3928193	single nucleotide variant	NM_001080430.4(TOX3):c.1262C>T (p.Thr421Met)	not specified [RCV005287964]	uncertain significance	16	52439694	52439694	Human		name
598188639	CV3928194	single nucleotide variant	NM_001080430.4(TOX3):c.1237G>C (p.Ala413Pro)	not specified [RCV005287965]	uncertain significance	16	52439719	52439719	Human		name
598188653	CV3928196	single nucleotide variant	NM_001080430.4(TOX3):c.1237G>A (p.Ala413Thr)	not specified [RCV005287967]	uncertain significance	16	52439719	52439719	Human		name
15182246	CV714965	single nucleotide variant	NM_001080430.4(TOX3):c.1537C>T (p.Arg513Cys)	not provided [RCV000974585]	benign	16	52439419	52439419	Human		name
150422000	CV1194884	deletion	NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)	Familial gestational hyperthyroidism [RCV002476874]\|Hypothyroidism due to TSH receptor mutations [RCV002274197]\|not provided [RCV001570778]	pathogenic\|likely pathogenic	14	81144020	81144021	Human	4	alternate_id
150446252	CV1274345	single nucleotide variant	NM_000369.5(TSHR):c.692+163A>G	Familial gestational hyperthyroidism [RCV001840831]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001840829]\|Hypothyroidism due to TSH receptor mutations [RCV001840830]\|not provided [RCV001713681]\|not specified [RCV001698749]	benign	14	81108615	81108615	Human	4	alternate_id
150545488	CV1293825	single nucleotide variant	NM_000369.5(TSHR):c.170T>C (p.Leu57Pro)	Familial gestational hyperthyroidism [RCV002496076]\|not provided [RCV001763006]	uncertain significance	14	80955850	80955850	Human	1	alternate_id
151750475	CV1334493	single nucleotide variant	NM_000369.5(TSHR):c.692+48T>A	Familial gestational hyperthyroidism [RCV001840959]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001840957]\|Hypothyroidism due to TSH receptor mutations [RCV001840958]\|not provided [RCV004706258]	benign\|likely benign	14	81108500	81108500	Human	4	alternate_id
8688587	CV139131	single nucleotide variant	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	Familial gestational hyperthyroidism [RCV001839916]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001118138]\|Hypothyroidism due to TSH receptor mutations [RCV000319857]\|not provided [RCV001657769]\|not specified [RCV000122244]	benign\|likely benign\|not provided	14	80955834	80955834	Human	4	alternate_id
8688589	CV139133	single nucleotide variant	NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119885]\|Hypothyroidism due to TSH receptor mutations [RCV001119886]\|TSHR-related disorder [RCV004530041]\|not provided [RCV000864226]\|not specified [RCV000122247]	benign\|likely benign\|uncertain significance\|not provided	14	81143658	81143658	Human	3	alternate_id
8688591	CV139135	single nucleotide variant	NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000359860]\|Hypothyroidism due to TSH receptor mutations [RCV000267968]\|TSHR-related disorder [RCV004530042]\|not provided [RCV000870818]\|not specified [RCV000122249]	benign\|likely benign\|not provided	14	81144290	81144290	Human	3	alternate_id
8688593	CV139137	single nucleotide variant	NM_000369.5(TSHR):c.1270G>A (p.Val424Ile)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115203]\|Hypothyroidism due to TSH receptor mutations [RCV001115204]\|not specified [RCV000122252]	uncertain significance\|not provided	14	81143328	81143328	Human	3	alternate_id
8688594	CV139138	single nucleotide variant	NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000299331]\|Hypothyroidism due to TSH receptor mutations [RCV000356472]\|not provided [RCV000873340]\|not specified [RCV000122253]	benign\|uncertain significance\|not provided	14	81144219	81144219	Human	3	alternate_id
8688595	CV139139	single nucleotide variant	NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	Familial gestational hyperthyroidism [RCV001839917]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV000392451]\|Hypothyroidism due to TSH receptor mutations [RCV000302729]\|not provided [RCV001541679]\|not specified [RCV000122254]	benign\|likely benign\|not provided	14	81144239	81144239	Human	4	alternate_id
8688596	CV139140	single nucleotide variant	NM_000369.5(TSHR):c.929G>A (p.Arg310His)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121767]\|Hypothyroidism due to TSH receptor mutations [RCV001121768]\|TSHR-related disorder [RCV004530043]\|not provided [RCV000954542]\|not specified [RCV000122255]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	14	81142987	81142987	Human	3	alternate_id
8688598	CV139142	single nucleotide variant	NM_000369.5(TSHR):c.692+209C>A	Familial gestational hyperthyroidism [RCV001839920]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001839918]\|Hypothyroidism due to TSH receptor mutations [RCV001839919]\|not provided [RCV001610431]\|not specified [RCV000122257]	benign\|not provided	14	81108661	81108661	Human	4	alternate_id
156048650	CV1867602	single nucleotide variant	NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)	Familial gestational hyperthyroidism [RCV005008602]\|not provided [RCV002510074]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	81143283	81143283	Human	1	alternate_id
8597116	CV21469	single nucleotide variant	NM_000369.5(TSHR):c.106G>C (p.Asp36His)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000259846]\|Graves disease, susceptibility to, 1 [RCV004991966]\|Hypothyroidism due to TSH receptor mutations [RCV000373195]\|not provided [RCV000870612]\|not specified [RCV000122245]	benign\|likely benign\|not provided	14	80955786	80955786	Human	4	alternate_id
8597119	CV21472	single nucleotide variant	NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006802]\|Thyroid adenoma, hyperfunctioning, somatic [RCV000006803]	pathogenic\|other	14	81143949	81143949	Human	2	alternate_id
8597121	CV21474	single nucleotide variant	NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)	Familial gestational hyperthyroidism [RCV002490329]\|Familial gestational hyperthyroidism [RCV003466821]\|Hypothyroidism due to TSH receptor mutations [RCV000006805]\|not provided [RCV001815162]	pathogenic\|likely pathogenic	14	81092547	81092547	Human	4	alternate_id
8597122	CV21475	single nucleotide variant	NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006806]	pathogenic\|likely pathogenic	14	81143416	81143416	Human	1	alternate_id
8597124	CV21477	single nucleotide variant	NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)	Familial gestational hyperthyroidism [RCV005007829]\|Hypothyroidism due to TSH receptor mutations [RCV000006808]\|not provided [RCV003555948]	pathogenic\|likely pathogenic	14	81087962	81087962	Human	4	alternate_id
8597125	CV21478	single nucleotide variant	NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)	Familial gestational hyperthyroidism [RCV005007830]\|Hypothyroidism due to TSH receptor mutations [RCV000006809]\|Inborn genetic diseases [RCV002512852]\|TSHR-related disorder [RCV004528087]\|not provided [RCV000333686]	pathogenic\|likely pathogenic\|benign	14	81143695	81143695	Human	5	alternate_id
8597128	CV21481	single nucleotide variant	NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	Epilepsy [RCV000415318]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001197388]\|Hypothyroidism due to TSH receptor mutations [RCV000006812]\|not provided [RCV005003341]\|not specified [RCV004700195]	pathogenic\|likely pathogenic\|uncertain significance	14	80955802	80955802	Human	7	alternate_id
8597130	CV21483	single nucleotide variant	NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)	Familial gestational hyperthyroidism [RCV002490330]\|Hypothyroidism due to TSH receptor mutations [RCV000006814]	pathogenic\|likely pathogenic	14	81143228	81143228	Human	4	alternate_id
8597131	CV21484	single nucleotide variant	NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	Familial gestational hyperthyroidism [RCV004566686]\|Familial gestational hyperthyroidism [RCV005007831]\|Hypothyroidism due to TSH receptor mutations [RCV000006815]\|Inborn genetic diseases [RCV002512853]\|TSHR-related disorder [RCV004532302]\|not provided [RCV003764533]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	14	81143715	81143715	Human	6	alternate_id
8597131	CV21484	single nucleotide variant	NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	Familial gestational hyperthyroidism [RCV004566686]\|Familial gestational hyperthyroidism [RCV005007831]\|Hypothyroidism due to TSH receptor mutations [RCV000006815]\|Inborn genetic diseases [RCV002512853]\|TSHR-related disorder [RCV004532302]\|not provided [RCV003764533]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	14	81143715	81143716	Human	6	alternate_id
8597133	CV21487	single nucleotide variant	NM_000369.5(TSHR):c.1526T>C (p.Val509Ala)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006818]	pathogenic	14	81143584	81143584	Human	1	alternate_id
8597134	CV21488	single nucleotide variant	NM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006819]	pathogenic	14	81144073	81144073	Human	1	alternate_id
8597135	CV21489	single nucleotide variant	NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006820]\|not provided [RCV002468962]	pathogenic\|likely pathogenic	14	81143572	81143572	Human	1	alternate_id
8597136	CV21490	single nucleotide variant	NM_000369.5(TSHR):c.1887G>T (p.Leu629Phe)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006821]\|Thyroid adenoma, hyperfunctioning, somatic [RCV000006822]	pathogenic\|other	14	81143945	81143945	Human	2	alternate_id
8597137	CV21491	single nucleotide variant	NM_000369.5(TSHR):c.842G>A (p.Ser281Asn)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006823]	pathogenic	14	81139828	81139828	Human	1	alternate_id
8597139	CV21493	single nucleotide variant	NM_000369.5(TSHR):c.1915C>T (p.Pro639Ser)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006825]	pathogenic	14	81143973	81143973	Human	1	alternate_id
8597142	CV21496	single nucleotide variant	NM_000369.5(TSHR):c.1291G>A (p.Gly431Ser)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000006828]	pathogenic	14	81143349	81143349	Human	1	alternate_id
10449662	CV215485	single nucleotide variant	NM_000369.5(TSHR):c.881+3A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000321154]\|Hypothyroidism due to TSH receptor mutations [RCV000378172]\|TSHR-related disorder [RCV004530210]\|not provided [RCV000864415]\|not specified [RCV000202706]	benign\|likely benign\|uncertain significance	14	81139870	81139870	Human	3	alternate_id
12907333	CV227361	single nucleotide variant	NM_000369.5(TSHR):c.733G>A (p.Gly245Ser)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118245]\|Hypothyroidism due to TSH receptor mutations [RCV000490322]\|not provided [RCV001753637]	benign\|uncertain significance	14	81139719	81139719	Human	3	alternate_id
11578089	CV227362	single nucleotide variant	NM_000369.5(TSHR):c.1349G>A (p.Arg450His)	Congenital hypothyroidism [RCV000826152]\|Familial gestational hyperthyroidism [RCV003225722]\|Familial gestational hyperthyroidism [RCV005008151]\|Hypothyroidism due to TSH receptor mutations [RCV000490528]\|Ovarian cancer [RCV003153491]\|not provided [RCV000273881]	pathogenic\|likely pathogenic\|benign	14	81143407	81143407	Human	10	alternate_id
11544331	CV255092	single nucleotide variant	NM_000369.5(TSHR):c.545+13A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000400761]\|Hypothyroidism due to TSH receptor mutations [RCV000347168]\|not provided [RCV001658165]\|not specified [RCV000243644]	benign\|likely benign	14	81092621	81092621	Human	3	alternate_id
11547920	CV255093	single nucleotide variant	NM_000369.5(TSHR):c.561T>C (p.Asn187=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000312123]\|Hypothyroidism due to TSH receptor mutations [RCV000371329]\|not provided [RCV001698502]\|not specified [RCV000248392]	benign\|likely benign	14	81096654	81096654	Human	3	alternate_id
11544591	CV255095	single nucleotide variant	NM_000369.5(TSHR):c.1377G>A (p.Ala459=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000346528]\|Hypothyroidism due to TSH receptor mutations [RCV000384951]\|not provided [RCV001574623]\|not specified [RCV000243995]	benign\|likely benign	14	81143435	81143435	Human	3	alternate_id
401721358	CV2737535	single nucleotide variant	NM_000369.5(TSHR):c.1891T>G (p.Phe631Val)	Familial hyperthyroidism due to mutations in TSH receptor [RCV003314474]	likely pathogenic	14	81143949	81143949	Human	1	alternate_id
401901628	CV2797903	single nucleotide variant	NM_000369.5(TSHR):c.2234C>G (p.Ser745Cys)	Familial gestational hyperthyroidism [RCV005399378]\|TSHR-related disorder [RCV004534360]	uncertain significance	14	81144292	81144292	Human	4	alternate_id
401905095	CV2831384	single nucleotide variant	NM_000369.5(TSHR):c.1966G>A (p.Val656Ile)	Familial hyperthyroidism due to mutations in TSH receptor [RCV003444185]	likely pathogenic	14	81144024	81144024	Human	1	alternate_id
8564520	CV29948	variation	HLA-B*15:02	Stevens-Johnson syndrome, susceptibility to [RCV004576901]\|Susceptibility to severe cutaneous adverse reaction [RCV000016039]\|Toxic epidermal necrolysis [RCV000016041]	risk factor				Human		trait , alternate_id
8564522	CV29950	variation	HLA–B*58:01	Allopurinol response [RCV000031851]\|Stevens-Johnson syndrome, susceptibility to [RCV004576902]\|Susceptibility to severe cutaneous adverse reaction [RCV000016044]\|Toxic epidermal necrolysis [RCV000016046]	risk factor\|not provided				Human		trait , alternate_id
405203694	CV3165161	single nucleotide variant	NM_000369.5(TSHR):c.881+1G>T	Familial gestational hyperthyroidism [RCV005013256]\|not provided [RCV003861022]	pathogenic\|likely pathogenic	14	81139868	81139868	Human	1	alternate_id
402483549	CV3171179	deletion	NM_000369.5(TSHR):c.801_810del (p.Leu267fs)	Familial gestational hyperthyroidism [RCV005013268]\|not provided [RCV003876206]	pathogenic\|likely pathogenic	14	81139780	81139789	Human	1	alternate_id
11602217	CV321627	single nucleotide variant	NM_000369.5(TSHR):c.1290G>A (p.Leu430=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000289210]\|Hypothyroidism due to TSH receptor mutations [RCV000381332]\|not provided [RCV000909751]	benign\|likely benign\|uncertain significance	14	81143348	81143348	Human	3	alternate_id
11605905	CV321628	single nucleotide variant	NM_000369.5(TSHR):c.*18C>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000363808]\|Hypothyroidism due to TSH receptor mutations [RCV000325352]	benign\|likely benign	14	81144371	81144371	Human	3	alternate_id
11652572	CV321633	single nucleotide variant	NM_000369.5(TSHR):c.*319G>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000362971]\|Hypothyroidism due to TSH receptor mutations [RCV000305925]	uncertain significance	14	81144672	81144672	Human	3	alternate_id
11657941	CV321634	duplication	NM_000369.5(TSHR):c.*1154dup	Congenital hypothyroidism [RCV000400446]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV000345465]	likely benign	14	81145506	81145507	Human	3	alternate_id
11645879	CV321635	single nucleotide variant	NM_000369.5(TSHR):c.*1620C>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000267613]\|Hypothyroidism due to TSH receptor mutations [RCV000378468]	uncertain significance	14	81145973	81145973	Human	3	alternate_id
11649924	CV321636	single nucleotide variant	NM_000369.5(TSHR):c.*1742G>T	Congenital hypothyroidism [RCV000290258]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV000347614]	uncertain significance	14	81146095	81146095	Human	3	alternate_id
11614542	CV330890	single nucleotide variant	NM_000369.5(TSHR):c.-60G>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000332604]\|Hypothyroidism due to TSH receptor mutations [RCV000277558]	benign\|uncertain significance	14	80955621	80955621	Human	3	alternate_id
11620665	CV330891	single nucleotide variant	NM_000369.5(TSHR):c.171-11T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000339754]\|Hypothyroidism due to TSH receptor mutations [RCV000380414]\|not provided [RCV003736711]	benign\|uncertain significance	14	81062137	81062137	Human	3	alternate_id
11644501	CV330894	single nucleotide variant	NM_000369.5(TSHR):c.615-6C>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000260249]\|Hypothyroidism due to TSH receptor mutations [RCV000299176]	uncertain significance	14	81108369	81108369	Human	3	alternate_id
11612922	CV330904	single nucleotide variant	NM_000369.5(TSHR):c.692+3G>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000356284]\|Hypothyroidism due to TSH receptor mutations [RCV000263643]\|not provided [RCV003105866]\|not specified [RCV003488529]	benign\|likely benign\|uncertain significance	14	81108455	81108455	Human	3	alternate_id
11615659	CV330906	single nucleotide variant	NM_000369.5(TSHR):c.*1152T>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000288117]\|Hypothyroidism due to TSH receptor mutations [RCV000396098]\|not provided [RCV004714877]	benign\|likely benign	14	81145505	81145505	Human	3	alternate_id
11618065	CV330908	single nucleotide variant	NM_000369.5(TSHR):c.*1222G>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000349021]\|Hypothyroidism due to TSH receptor mutations [RCV000310384]\|not provided [RCV004714878]	benign\|likely benign	14	81145575	81145575	Human	3	alternate_id
11618466	CV330912	single nucleotide variant	NM_000369.5(TSHR):c.*1289A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000399743]\|Hypothyroidism due to TSH receptor mutations [RCV000314042]\|not provided [RCV004703672]	benign\|likely benign	14	81145642	81145642	Human	3	alternate_id
11615441	CV337547	single nucleotide variant	NM_000369.5(TSHR):c.357T>A (p.Pro119=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000345712]\|Hypothyroidism due to TSH receptor mutations [RCV000286041]\|not provided [RCV000871206]\|not specified [RCV000500628]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	81087993	81087993	Human	3	alternate_id
11617870	CV337553	single nucleotide variant	NM_000369.5(TSHR):c.394G>C (p.Gly132Arg)	Familial gestational hyperthyroidism [RCV004567857]\|Familial gestational hyperthyroidism [RCV005010273]\|Ovarian cancer [RCV003153557]\|TSHR-related disorder [RCV003335304]\|not provided [RCV000489665]	likely pathogenic\|benign\|uncertain significance\|no classifications from unflagged records	14	81091070	81091070	Human	6	alternate_id
11620232	CV337556	single nucleotide variant	NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000334617]\|Hypothyroidism due to TSH receptor mutations [RCV000401092]\|Inborn genetic diseases [RCV005286062]\|not specified [RCV003401322]	likely benign\|uncertain significance	14	81144178	81144178	Human	4	alternate_id
11613771	CV337563	single nucleotide variant	NM_000369.5(TSHR):c.*116G>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000328706]\|Hypothyroidism due to TSH receptor mutations [RCV000271572]	uncertain significance	14	81144469	81144469	Human	3	alternate_id
11614814	CV337564	single nucleotide variant	NM_000369.5(TSHR):c.*172C>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000279898]\|Hypothyroidism due to TSH receptor mutations [RCV000337203]\|not provided [RCV004715870]	benign\|likely benign	14	81144525	81144525	Human	3	alternate_id
11615211	CV337565	single nucleotide variant	NM_000369.5(TSHR):c.*182G>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000283517]\|Hypothyroidism due to TSH receptor mutations [RCV000398056]	benign\|likely benign\|uncertain significance	14	81144535	81144535	Human	3	alternate_id
11617875	CV337571	single nucleotide variant	NM_000369.5(TSHR):c.*400T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000308761]\|Hypothyroidism due to TSH receptor mutations [RCV000390075]	uncertain significance	14	81144753	81144753	Human	3	alternate_id
11619900	CV337572	single nucleotide variant	NM_000369.5(TSHR):c.*474G>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000330876]\|Hypothyroidism due to TSH receptor mutations [RCV000369106]	benign\|likely benign	14	81144827	81144827	Human	3	alternate_id
11614423	CV337585	single nucleotide variant	NM_000369.5(TSHR):c.*728A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000276943]\|Hypothyroidism due to TSH receptor mutations [RCV000316669]	benign\|likely benign\|uncertain significance	14	81145081	81145081	Human	3	alternate_id
11614995	CV337591	single nucleotide variant	NM_000369.5(TSHR):c.*909C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000281480]\|Hypothyroidism due to TSH receptor mutations [RCV000373593]\|not provided [RCV004714876]	benign\|likely benign	14	81145262	81145262	Human	6	alternate_id
11614995	CV337591	single nucleotide variant	NM_000369.5(TSHR):c.*909C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000281480]\|Hypothyroidism due to TSH receptor mutations [RCV000373593]\|not provided [RCV004714876]	benign\|likely benign	14	81145262	81145263	Human	6	alternate_id
11619380	CV337607	single nucleotide variant	NM_000369.5(TSHR):c.*1695T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000382307]\|Hypothyroidism due to TSH receptor mutations [RCV000324982]	benign\|uncertain significance	14	81146048	81146048	Human	3	alternate_id
11616372	CV337609	single nucleotide variant	NM_000369.5(TSHR):c.*1813T>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000293889]\|Hypothyroidism due to TSH receptor mutations [RCV000385843]	benign\|likely benign	14	81146166	81146166	Human	3	alternate_id
11616758	CV337613	single nucleotide variant	NM_000369.5(TSHR):c.*1946C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000336110]\|Hypothyroidism due to TSH receptor mutations [RCV000297348]	benign\|uncertain significance	14	81146299	81146299	Human	3	alternate_id
11648946	CV339633	single nucleotide variant	NM_000369.5(TSHR):c.157A>C (p.Ser53Arg)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000374577]\|Hypothyroidism due to TSH receptor mutations [RCV000284776]	uncertain significance	14	80955837	80955837	Human	3	alternate_id
11613305	CV339636	single nucleotide variant	NM_000369.5(TSHR):c.1191G>T (p.Val397=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000267339]\|Hypothyroidism due to TSH receptor mutations [RCV000324461]	uncertain significance	14	81143249	81143249	Human	3	alternate_id
11650611	CV339638	single nucleotide variant	NM_000369.5(TSHR):c.*125A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000293788]\|Hypothyroidism due to TSH receptor mutations [RCV000385595]	uncertain significance	14	81144478	81144478	Human	3	alternate_id
11656285	CV339642	deletion	NM_000369.5(TSHR):c.*137del	Congenital hypothyroidism [RCV000332370]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV000372124]	uncertain significance	14	81144487	81144487	Human	3	alternate_id
11620754	CV339647	single nucleotide variant	NM_000369.5(TSHR):c.*245C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000340818]\|Hypothyroidism due to TSH receptor mutations [RCV000398726]\|not provided [RCV001636893]	benign\|likely benign	14	81144598	81144598	Human	3	alternate_id
11613978	CV339648	single nucleotide variant	NM_000369.5(TSHR):c.*431T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000273443]\|Hypothyroidism due to TSH receptor mutations [RCV000365744]\|not provided [RCV004714875]	benign\|likely benign	14	81144784	81144784	Human	3	alternate_id
11618984	CV339655	single nucleotide variant	NM_000369.5(TSHR):c.*960T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000320210]\|Hypothyroidism due to TSH receptor mutations [RCV000376939]	benign\|likely benign\|uncertain significance	14	81145313	81145313	Human	3	alternate_id
11615384	CV339657	single nucleotide variant	NM_000369.5(TSHR):c.*1106G>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV000342322]\|Hypothyroidism due to TSH receptor mutations [RCV000285030]	benign\|likely benign\|uncertain significance	14	81145459	81145459	Human	3	alternate_id
11644533	CV339660	single nucleotide variant	NM_000369.5(TSHR):c.*1317C>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV000371095]\|Hypothyroidism due to TSH receptor mutations [RCV000260629]	uncertain significance	14	81145670	81145670	Human	3	alternate_id
11616952	CV339661	single nucleotide variant	NM_000369.5(TSHR):c.*1417T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV000299426]\|Hypothyroidism due to TSH receptor mutations [RCV000356567]\|not provided [RCV004714879]	benign\|likely benign	14	81145770	81145770	Human	3	alternate_id
11612945	CV339664	single nucleotide variant	NM_000369.5(TSHR):c.*1580A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000321498]\|Hypothyroidism due to TSH receptor mutations [RCV000264128]	benign\|likely benign\|uncertain significance	14	81145933	81145933	Human	3	alternate_id
11658678	CV339665	single nucleotide variant	NM_000369.5(TSHR):c.*1898A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV000396484]\|Hypothyroidism due to TSH receptor mutations [RCV000351094]	uncertain significance	14	81146251	81146251	Human	3	alternate_id
405869992	CV3399649	single nucleotide variant	NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)	Familial gestational hyperthyroidism [RCV004573794]\|Familial gestational hyperthyroidism [RCV005392822]	likely pathogenic\|uncertain significance	14	81143250	81143250	Human	1	alternate_id
407475866	CV3494717	single nucleotide variant	NM_000369.5(TSHR):c.755T>C (p.Leu252Pro)	Familial hyperthyroidism due to mutations in TSH receptor [RCV004690616]	likely pathogenic	14	81139741	81139741	Human	1	alternate_id
597707028	CV3711055	single nucleotide variant	NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)	Familial gestational hyperthyroidism [RCV005009337]	likely pathogenic	14	81092548	81092548	Human	1	alternate_id
597707037	CV3711056	single nucleotide variant	NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)	Familial gestational hyperthyroidism [RCV005009338]\|not provided [RCV005061861]	pathogenic\|likely pathogenic	14	81143523	81143523	Human	1	alternate_id
597707046	CV3711057	single nucleotide variant	NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)	Familial gestational hyperthyroidism [RCV005009339]	likely pathogenic	14	81143640	81143640	Human	1	alternate_id
597707054	CV3711058	single nucleotide variant	NM_000369.5(TSHR):c.1918A>G (p.Ile640Val)	Familial gestational hyperthyroidism [RCV005009340]	uncertain significance	14	81143976	81143976	Human	1	alternate_id
597707065	CV3711059	single nucleotide variant	NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)	Familial gestational hyperthyroidism [RCV005009341]	likely pathogenic	14	81144124	81144124	Human	1	alternate_id
12896518	CV390132	single nucleotide variant	NM_000369.5(TSHR):c.692+49T>C	Familial gestational hyperthyroidism [RCV001840570]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001840568]\|Hypothyroidism due to TSH receptor mutations [RCV001840569]\|not provided [RCV004703997]\|not specified [RCV000455456]	benign\|likely benign	14	81108501	81108501	Human	4	alternate_id
598188804	CV4008631	single nucleotide variant	NM_000369.5(TSHR):c.2104C>G (p.Gln702Glu)	Familial gestational hyperthyroidism [RCV005396130]	uncertain significance	14	81144162	81144162	Human	1	alternate_id
12894599	CV409157	indel	NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)	Familial gestational hyperthyroidism [RCV005010391]\|TSHR-related disorder [RCV004541520]\|not provided [RCV000483426]	likely pathogenic	14	81068278	81068281	Human		alternate_id
12907009	CV415406	deletion	NM_000369.5(TSHR):c.418del (p.Met140fs)	Familial gestational hyperthyroidism [RCV002481552]\|not provided [RCV000489917]	pathogenic\|likely pathogenic	14	81091091	81091091	Human	1	alternate_id
13216774	CV429594	single nucleotide variant	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	Familial gestational hyperthyroidism [RCV004568640]\|Familial gestational hyperthyroidism [RCV005010439]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV000989248]\|Hypothyroidism due to TSH receptor mutations [RCV000504179]\|Inborn genetic diseases [RCV002524319]\|Malignant tumor of breas ... (more) t [RCV001005031]\|TSHR-related disorder [RCV004735578]\|not provided [RCV001223345]	pathogenic\|likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	81062179	81062179	Human	7	alternate_id
15138321	CV693609	single nucleotide variant	NM_000369.5(TSHR):c.735C>G (p.Gly245=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118246]\|Hypothyroidism due to TSH receptor mutations [RCV001118247]\|not provided [RCV000877140]	benign\|likely benign\|uncertain significance	14	81139721	81139721	Human	3	alternate_id
15149900	CV739359	single nucleotide variant	NM_000369.5(TSHR):c.765A>G (p.Arg255=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119784]\|Hypothyroidism due to TSH receptor mutations [RCV001119785]\|not provided [RCV000901034]	likely benign\|uncertain significance	14	81139751	81139751	Human	3	alternate_id
15139942	CV754183	single nucleotide variant	NM_000369.5(TSHR):c.1206C>T (p.Ser402=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121770]\|Hypothyroidism due to TSH receptor mutations [RCV001121769]\|TSHR-related disorder [RCV004543458]\|not provided [RCV000921598]	likely benign\|uncertain significance	14	81143264	81143264	Human	3	alternate_id
21072606	CV791425	single nucleotide variant	NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)	Familial hyperthyroidism due to mutations in TSH receptor [RCV000989249]	benign	14	81143487	81143487	Human	1	alternate_id
28877803	CV872794	single nucleotide variant	NM_000369.2(TSHR):c.-102C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001116691]\|Hypothyroidism due to TSH receptor mutations [RCV001116692]	uncertain significance	14	80955579	80955579	Human	3	alternate_id
28882451	CV872795	single nucleotide variant	NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118137]\|Hypothyroidism due to TSH receptor mutations [RCV001118136]\|Inborn genetic diseases [RCV002556512]\|not provided [RCV001593281]\|not specified [RCV002249730]	benign\|uncertain significance	14	80955780	80955780	Human	4	alternate_id
28887610	CV872796	single nucleotide variant	NM_000369.5(TSHR):c.190C>T (p.Leu64=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119680]\|Hypothyroidism due to TSH receptor mutations [RCV001119679]	uncertain significance	14	81062167	81062167	Human	3	alternate_id
28887616	CV872797	single nucleotide variant	NM_000369.5(TSHR):c.197C>A (p.Thr66Asn)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119681]\|Hypothyroidism due to TSH receptor mutations [RCV001119682]	uncertain significance	14	81062174	81062174	Human	3	alternate_id
28893359	CV872798	single nucleotide variant	NM_000369.5(TSHR):c.406A>G (p.Thr136Ala)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121665]\|Hypothyroidism due to TSH receptor mutations [RCV001121666]	uncertain significance	14	81091082	81091082	Human	3	alternate_id
28893367	CV872799	single nucleotide variant	NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121667]\|Hypothyroidism due to TSH receptor mutations [RCV001121668]\|not provided [RCV001354991]\|not specified [RCV005236619]	likely benign\|uncertain significance	14	81091139	81091139	Human	3	alternate_id
28878111	CV872800	single nucleotide variant	NM_000369.5(TSHR):c.611C>T (p.Ala204Val)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001116791]\|Hypothyroidism due to TSH receptor mutations [RCV001116792]\|not specified [RCV004689996]	benign\|uncertain significance	14	81096704	81096704	Human	3	alternate_id
28882809	CV872801	single nucleotide variant	NM_000369.5(TSHR):c.756G>C (p.Leu252=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118248]\|Hypothyroidism due to TSH receptor mutations [RCV001118249]	uncertain significance	14	81139742	81139742	Human	3	alternate_id
28882814	CV872802	single nucleotide variant	NM_000369.5(TSHR):c.758T>C (p.Ile253Thr)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119783]\|Hypothyroidism due to TSH receptor mutations [RCV001118250]	uncertain significance	14	81139744	81139744	Human	3	alternate_id
28887948	CV872803	single nucleotide variant	NM_000369.5(TSHR):c.891G>A (p.Glu297=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119786]\|Hypothyroidism due to TSH receptor mutations [RCV001119787]\|TSHR-related disorder [RCV004538346]\|not provided [RCV003769174]	benign\|likely benign\|uncertain significance	14	81142949	81142949	Human	3	alternate_id
28887955	CV872804	single nucleotide variant	NM_000369.5(TSHR):c.915T>A (p.Ser305Arg)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119788]\|Hypothyroidism due to TSH receptor mutations [RCV001121766]\|not provided [RCV002556560]	benign\|uncertain significance	14	81142973	81142973	Human	3	alternate_id
28873846	CV872805	single nucleotide variant	NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115202]\|Hypothyroidism due to TSH receptor mutations [RCV001121771]\|not provided [RCV001760082]	uncertain significance	14	81143280	81143280	Human	3	alternate_id
28873850	CV872806	single nucleotide variant	NM_000369.5(TSHR):c.1341C>T (p.Asn447=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115205]\|Hypothyroidism due to TSH receptor mutations [RCV001115206]\|not provided [RCV003727868]	benign\|likely benign\|uncertain significance	14	81143399	81143399	Human	3	alternate_id
28883125	CV872807	single nucleotide variant	NM_000369.5(TSHR):c.1479G>A (p.Gly493=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118349]\|Hypothyroidism due to TSH receptor mutations [RCV001118348]\|not provided [RCV005093532]	likely benign\|uncertain significance	14	81143537	81143537	Human	3	alternate_id
28883129	CV872808	single nucleotide variant	NM_000369.5(TSHR):c.1556G>A (p.Arg519His)	Familial gestational hyperthyroidism [RCV005012572]\|Hypothyroidism due to TSH receptor mutations [RCV001118351]\|not provided [RCV002245863]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	81143614	81143614	Human	4	alternate_id
28888253	CV872809	single nucleotide variant	NM_000369.5(TSHR):c.1583G>A (p.Arg528His)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119884]\|Hypothyroidism due to TSH receptor mutations [RCV001119883]	uncertain significance	14	81143641	81143641	Human	3	alternate_id
28888262	CV872810	single nucleotide variant	NM_000369.5(TSHR):c.1621A>G (p.Ile541Val)	Familial gestational hyperthyroidism [RCV005394750]\|Familial hyperthyroidism due to mutations in TSH receptor [RCV001119887]\|Hypothyroidism due to TSH receptor mutations [RCV001119888]	benign\|uncertain significance	14	81143679	81143679	Human	4	alternate_id
28888268	CV872811	single nucleotide variant	NM_000369.5(TSHR):c.1656C>T (p.Leu552=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119889]\|Hypothyroidism due to TSH receptor mutations [RCV001121874]\|not provided [RCV003769176]	benign\|likely benign\|uncertain significance	14	81143714	81143714	Human	3	alternate_id
28893889	CV872812	single nucleotide variant	NM_000369.5(TSHR):c.1971C>T (p.Ser657=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121876]\|Hypothyroidism due to TSH receptor mutations [RCV001121875]\|not provided [RCV003727874]	benign\|uncertain significance	14	81144029	81144029	Human	4	alternate_id
28893889	CV872812	single nucleotide variant	NM_000369.5(TSHR):c.1971C>T (p.Ser657=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121876]\|Hypothyroidism due to TSH receptor mutations [RCV001121875]\|not provided [RCV003727874]	benign\|uncertain significance	14	81144029	81144030	Human	4	alternate_id
28893894	CV872813	single nucleotide variant	NM_000369.5(TSHR):c.2034T>C (p.Tyr678=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001121877]\|Hypothyroidism due to TSH receptor mutations [RCV001121878]\|not provided [RCV003736987]	benign\|likely benign\|uncertain significance	14	81144092	81144092	Human	3	alternate_id
28874089	CV872814	single nucleotide variant	NM_000369.5(TSHR):c.2154T>C (p.Asp718=)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115302]\|Hypothyroidism due to TSH receptor mutations [RCV001115303]\|not provided [RCV003558677]	likely benign\|uncertain significance	14	81144212	81144212	Human	3	alternate_id
28883493	CV872815	single nucleotide variant	NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser)	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118461]\|Hypothyroidism due to TSH receptor mutations [RCV001118460]	uncertain significance	14	81144315	81144315	Human	3	alternate_id
28888577	CV872816	single nucleotide variant	NM_000369.5(TSHR):c.*242C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001119978]\|Hypothyroidism due to TSH receptor mutations [RCV001119977]	uncertain significance	14	81144595	81144595	Human	3	alternate_id
28889494	CV872817	single nucleotide variant	NM_000369.5(TSHR):c.*249A>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV001120276]\|Hypothyroidism due to TSH receptor mutations [RCV001120277]	benign\|uncertain significance	14	81144602	81144602	Human	3	alternate_id
28874283	CV872818	single nucleotide variant	NM_000369.5(TSHR):c.*458G>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115390]\|Hypothyroidism due to TSH receptor mutations [RCV001115389]	uncertain significance	14	81144811	81144811	Human	3	alternate_id
28883767	CV872819	single nucleotide variant	NM_000369.5(TSHR):c.*1053T>C	Familial hyperthyroidism due to mutations in TSH receptor [RCV001118542]\|Hypothyroidism due to TSH receptor mutations [RCV001118541]	uncertain significance	14	81145406	81145406	Human	3	alternate_id
28888888	CV872820	single nucleotide variant	NM_000369.5(TSHR):c.*1262C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001120069]\|Hypothyroidism due to TSH receptor mutations [RCV001120068]	uncertain significance	14	81145615	81145615	Human	3	alternate_id
28889806	CV872821	single nucleotide variant	NM_000369.5(TSHR):c.*1486C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001120378]\|Hypothyroidism due to TSH receptor mutations [RCV001120379]	uncertain significance	14	81145839	81145839	Human	3	alternate_id
28874484	CV872822	single nucleotide variant	NM_000369.5(TSHR):c.*1496A>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115483]\|Hypothyroidism due to TSH receptor mutations [RCV001115482]	uncertain significance	14	81145849	81145849	Human	3	alternate_id
28874488	CV872823	single nucleotide variant	NM_000369.5(TSHR):c.*1559C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001115484]\|Hypothyroidism due to TSH receptor mutations [RCV001115485]	uncertain significance	14	81145912	81145912	Human	3	alternate_id
28878423	CV872824	single nucleotide variant	NM_000369.5(TSHR):c.*1807T>A	Familial hyperthyroidism due to mutations in TSH receptor [RCV001116900]\|Hypothyroidism due to TSH receptor mutations [RCV001116901]	benign\|uncertain significance	14	81146160	81146160	Human	3	alternate_id
28878430	CV872825	single nucleotide variant	NM_000369.5(TSHR):c.*1845T>G	Familial hyperthyroidism due to mutations in TSH receptor [RCV001116903]\|Hypothyroidism due to TSH receptor mutations [RCV001116902]	uncertain significance	14	81146198	81146198	Human	3	alternate_id
28877797	CV876459	single nucleotide variant	NM_000369.2(TSHR):c.-166C>T	Familial hyperthyroidism due to mutations in TSH receptor [RCV001116689]\|Hypothyroidism due to TSH receptor mutations [RCV001116690]	uncertain significance	14	80955515	80955515	Human	3	alternate_id
11087746	CV227754	single nucleotide variant	NM_145867.1(LTC4S):c.-444A>C	aspirin response - Toxicity/ADR [RCV000211358]	drug response	5	179793637	179793637	Human		trait
11087713	CV227781	single nucleotide variant	NM_024006.5(VKORC1):c.-1639G>T	warfarin response - Toxicity/ADR [RCV000211327]	drug response	16	31096368	31096368	Human		trait
11087733	CV227811	single nucleotide variant	NM_000675.6(ADORA2A):c.-275+1797C>T	caffeine response - Toxicity/ADR [RCV000660765]	drug response	22	24429543	24429543	Human		trait
12791665	CV362511	single nucleotide variant	NM_000675.5(ADORA2A):c.-275+1797C>A	caffeine response - Toxicity/ADR [RCV000417154]	drug response	22	24429543	24429543	Human		trait
13704364	CV538599	single nucleotide variant	NM_001320586.2(ACYP2):c.404+29374G>A	cisplatin response - Toxicity/ADR [RCV000660790]	drug response	2	54168122	54168122	Human		trait
13704365	CV538604	deletion	NM_004119.3(FLT3):c.680del (p.Thr227fs)	sunitinib response - Toxicity/ADR [RCV000660791]	drug response	13	28050157	28050157	Human		trait
11087687	CV227762	single nucleotide variant	NM_006379.5(SEMA3C):c.103+13883A>G	irinotecan response - Toxicity/ADR [RCV000211136]	drug response	7	80902796	80902796	Human		trait
11087720	CV227767	single nucleotide variant	NM_052958.4(C8orf34):c.736+8162C>G	irinotecan response - Toxicity/ADR [RCV000211148]	drug response	8	68476982	68476982	Human		trait
11087826	CV227833	single nucleotide variant	NM_001105564.2(CCHCR1):c.1581-597T>C	nevirapine response - Toxicity/ADR [RCV000211168]	drug response	6	31146405	31146405	Human		trait
13704369	CV538600	single nucleotide variant	NR_103444.1(LOC100996325):n.366+1469G>A	vincristine response - Toxicity/ADR [RCV000660860]	drug response	5	609978	609978	Human	5	trait
13704369	CV538600	single nucleotide variant	NR_103444.1(LOC100996325):n.366+1469G>A	vincristine response - Toxicity/ADR [RCV000660860]	drug response	5	609978	609979	Human	5	trait
11087834	CV227816	single nucleotide variant	NM_033394.3(TANC1):c.-125-6169A>C	radiotherapy response - Toxicity/ADR [RCV000211412]	drug response	2	158994911	158994911	Human		trait
11087836	CV227822	single nucleotide variant	NM_033394.3(TANC1):c.61+13908C>A	radiotherapy response - Toxicity/ADR [RCV000211429]	drug response	2	159079879	159079879	Human		trait
11087828	CV227823	single nucleotide variant	NM_033394.3(TANC1):c.62-3284C>G	radiotherapy response - Toxicity/ADR [RCV000211211]	drug response	2	159094353	159094353	Human		trait
11087832	CV227824	single nucleotide variant	NM_033394.3(TANC1):c.61+6948A>G	radiotherapy response - Toxicity/ADR [RCV000211335]	drug response	2	159072919	159072919	Human		trait
11087829	CV227831	single nucleotide variant	NM_033394.3(TANC1):c.-15-22495C>T	radiotherapy response - Toxicity/ADR [RCV000211233]	drug response	2	159043401	159043401	Human		trait
11087835	CV227834	single nucleotide variant	NM_033394.3(TANC1):c.-15-22919G>T	radiotherapy response - Toxicity/ADR [RCV000211418]	drug response	2	159042977	159042977	Human	2	trait
11087835	CV227834	single nucleotide variant	NM_033394.3(TANC1):c.-15-22919G>T	radiotherapy response - Toxicity/ADR [RCV000211418]	drug response	2	159042977	159042978	Human	2	trait
12791677	CV362505	single nucleotide variant	NM_006446.5(SLCO1B1):c.1865+4846T>C	methotrexate response - Toxicity/ADR [RCV000417177]	drug response	12	21229685	21229685	Human	3	trait
12791677	CV362505	single nucleotide variant	NM_006446.5(SLCO1B1):c.1865+4846T>C	methotrexate response - Toxicity/ADR [RCV000417177]	drug response	12	21229685	21229686	Human	3	trait
11087745	CV227765	single nucleotide variant	NM_130797.4(DPP6):c.244-71279T>C	antipsychotics response - Toxicity/ADR [RCV000211349]	drug response	7	154374935	154374935	Human		trait
11087732	CV227796	single nucleotide variant	NC_000018.9:g.57851097T>C	antipsychotics response - Toxicity/ADR [RCV000211281]	drug response	18	60183864	60183864	Human	7	trait
11087732	CV227796	single nucleotide variant	NC_000018.9:g.57851097T>C	antipsychotics response - Toxicity/ADR [RCV000211281]	drug response	18	60183864	60183865	Human	7	trait
151662541	CV1330420	deletion	NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs)	Pulmonary arterial hypertension [RCV001823957]	not provided	2	202556119	202556126	Human		alternate_id
151662565	CV1330434	single nucleotide variant	NM_001204.7(BMPR2):c.419-1G>T	Primary pulmonary hypertension [RCV002542751]\|Pulmonary arterial hypertension [RCV001823971]	likely pathogenic\|not provided	2	202513718	202513718	Human	3	alternate_id
12791670	CV362494	single nucleotide variant	NM_000748.3(CHRNB2):c.*472G>A	nicotine response - Efficacy, Toxicity/ADR [RCV000417150]	drug response	1	154576404	154576404	Human		trait
8591057	CV125779	single nucleotide variant	NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)	CYP2B6-related disorder [RCV003974998]\|Efavirenz response [RCV000106294]\|not provided [RCV004716941]	pathogenic\|benign\|likely benign\|drug response	19	41009358	41009358	Human	7	alternate_id
8591057	CV125779	single nucleotide variant	NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)	CYP2B6-related disorder [RCV003974998]\|Efavirenz response [RCV000106294]\|not provided [RCV004716941]	pathogenic\|benign\|likely benign\|drug response	19	41009358	41009359	Human	7	alternate_id
8591058	CV125780	single nucleotide variant	NM_000767.5(CYP2B6):c.329G>T (p.Gly110Val)	Efavirenz response [RCV000106295]	pathogenic\|drug response	19	41004158	41004158	Human	1	alternate_id
8591059	CV125781	single nucleotide variant	NM_000767.5(CYP2B6):c.341T>C (p.Ile114Thr)	Efavirenz response [RCV000106296]	pathogenic\|drug response	19	41004303	41004303	Human	1	alternate_id
8591060	CV125782	single nucleotide variant	NM_000767.5(CYP2B6):c.548T>G (p.Val183Gly)	Efavirenz response [RCV000106297]	pathogenic\|drug response	19	41006968	41006968	Human	1	alternate_id
8591061	CV125783	single nucleotide variant	NM_000767.5(CYP2B6):c.637T>C (p.Phe213Leu)	Efavirenz response [RCV000106298]	pathogenic\|drug response	19	41007057	41007057	Human	1	alternate_id
9481023	CV153633	single nucleotide variant	NM_000767.5(CYP2B6):c.186T>A (p.Tyr62Ter)	Efavirenz response [RCV000133445]	drug response	19	41004015	41004015	Human	1	alternate_id
9481024	CV153634	single nucleotide variant	NM_000767.5(CYP2B6):c.1132C>T (p.Arg378Ter)	Efavirenz response [RCV000133446]	drug response	19	41012465	41012465	Human	1	alternate_id
9481025	CV153635	single nucleotide variant	NM_000767.5(CYP2B6):c.593T>C (p.Met198Thr)	Efavirenz response [RCV000133447]	drug response	19	41007013	41007013	Human	1	alternate_id
11087755	CV227749	single nucleotide variant	NM_025221.5(KCNIP4):c.62-506862C>T	Ace Inhibitors, Plain response - Toxicity/ADR [RCV000211329]	drug response	4	21389571	21389571	Human		trait
8567845	CV38626	single nucleotide variant	NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)	CYP2B6-related disorder [RCV003974851]\|Efavirenz response [RCV000022520]\|efavirenz response - Metabolism/PK [RCV001787330]\|efavirenz response - Toxicity [RCV001787331]\|nevirapine response - Metabolism/PK [RCV001787332]	pathogenic\|risk factor\|likely benign\|drug response\|conflicting data from submitters	19	41006936	41006936	Human	1	trait , alternate_id
12791676	CV362506	single nucleotide variant	NM_000743.5(CHRNA3):c.*546C>T	nicotine response - Toxicity/ADR, Metabolism/PK [RCV000417128]	drug response	15	78596058	78596058	Human		trait
11087684	CV227789	single nucleotide variant	NM_001199280.2(HAS3):c.279A>G (p.Ala93=)	anthracyclines and related substances response - Toxicity/ADR [RCV000211138]	drug response	16	69109674	69109674	Human		trait
11087715	CV227809	single nucleotide variant	NM_001236.4(CBR3):c.730G>A (p.Val244Met)	anthracyclines and related substances response - Toxicity/ADR [RCV000211217]	drug response	21	36146408	36146408	Human		trait
12791678	CV362501	single nucleotide variant	NM_001199633.2(SLC28A3):c.862-360C>T	anthracyclines and related substances response - Toxicity/ADR [RCV000417185]	drug response	9	84294635	84294635	Human		trait
21403825	CV798981	single nucleotide variant	NC_000002.12:g.233757136G>A	Gilbert syndrome [RCV000999558]\|irinotecan response - Toxicity [RCV001788391]	likely benign\|drug response	2	233757136	233757136	Human	7	trait
21403825	CV798981	single nucleotide variant	NC_000002.12:g.233757136G>A	Gilbert syndrome [RCV000999558]\|irinotecan response - Toxicity [RCV001788391]	likely benign\|drug response	2	233757136	233757137	Human	7	trait
11087724	CV227805	single nucleotide variant	NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr)	CYP2B6-related disorder [RCV003927895]\|nevirapine response - Toxicity [RCV001787338]	benign\|drug response	19	41012316	41012316	Human		trait
8600343	CV31848	single nucleotide variant	NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)	Benzene toxicity, susceptibility to [RCV000018300]\|NQO1-related disorder [RCV003974839]	pathogenic\|risk factor\|benign\|drug response\|uncertain significance\|not provided	16	69711242	69711242	Human	3	trait
126736579	CV1019440	single nucleotide variant	NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)	Dihydropyrimidine dehydrogenase deficiency [RCV001335114]\|fluorouracil response - Other [RCV001788460]\|fluorouracil response - Toxicity [RCV001788461]	pathogenic\|drug response	1	97573943	97573943	Human	2	trait
8646517	CV105990	single nucleotide variant	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD-related disorder [RCV003964961]\|Dihydropyrimidine dehydrogenase deficiency [RCV000671354]\|fluorouracil response - Other [RCV001787913]\|fluorouracil response - Toxicity [RCV001787914]\|not provided [RCV000086496]\|not specified [RCV002222386]	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|not provided	1	97699474	97699474	Human	2	trait
8595084	CV15681	single nucleotide variant	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	Budd-Chiari syndrome, susceptibility to [RCV000000676]\|Congenital factor V deficiency [RCV003764502]\|Factor V deficiency [RCV000205002]\|Factor V deficiency [RCV001095681]\|Inborn genetic diseases [RCV002399305]\|Ischemic stroke [RCV000000675]\|Ischemic stroke [RCV005049305]\|Pregnancy loss, recurrent, s ... (more) usceptibility to, 1 [RCV000023935]\|Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process [RCV001806997]\|Thrombophilia due to activated protein C resistance [RCV000454249]\|hormonal contraceptives for systemic use response - Toxicity [RCV003227589]\|not provided [RCV003493407]\|not specified [RCV000616414]	pathogenic\|risk factor\|benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|low penetrance\|not provided	1	169549811	169549811	Human	43	trait
8595084	CV15681	single nucleotide variant	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	Budd-Chiari syndrome, susceptibility to [RCV000000676]\|Congenital factor V deficiency [RCV003764502]\|Factor V deficiency [RCV000205002]\|Factor V deficiency [RCV001095681]\|Inborn genetic diseases [RCV002399305]\|Ischemic stroke [RCV000000675]\|Ischemic stroke [RCV005049305]\|Pregnancy loss, recurrent, s ... (more) usceptibility to, 1 [RCV000023935]\|Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process [RCV001806997]\|Thrombophilia due to activated protein C resistance [RCV000454249]\|hormonal contraceptives for systemic use response - Toxicity [RCV003227589]\|not provided [RCV003493407]\|not specified [RCV000616414]	pathogenic\|risk factor\|benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|low penetrance\|not provided	1	169549811	169549812	Human	43	trait
11075138	CV227129	single nucleotide variant	NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)	NUDT15-related disorder [RCV003982953]\|Thiopurines, poor metabolism of, 2 [RCV000210853]\|azathioprine response - Toxicity [RCV001787328]\|mercaptopurine response - Dosage [RCV001788069]	likely benign\|drug response	13	48045719	48045719	Human	3	trait
11087709	CV227770	single nucleotide variant	NM_000769.4(CYP2C19):c.-806C>A	citalopram response - Metabolism/PK [RCV000211253]\|clopidogrel response - Dosage, Efficacy, Toxicity/ADR [RCV000211201]\|escitalopram response - Metabolism/PK [RCV000211375]	drug response	10	94761900	94761900	Human		trait
11087689	CV227799	single nucleotide variant	NM_000767.4(CYP2B6):c.516G>A (p.Gln172=)	efavirenz response - Dosage [RCV000211215]\|efavirenz response - Toxicity/ADR [RCV000211341]\|methadone response - Dosage [RCV000211243]\|nevirapine response - Other [RCV000211158]	drug response	19	41006936	41006936	Human		trait
11637130	CV267156	single nucleotide variant	NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)	Dihydropyrimidine dehydrogenase deficiency [RCV001004163]\|fluorouracil response - Other [RCV001788185]\|fluorouracil response - Toxicity [RCV001788186]\|not provided [RCV000280781]\|not specified [RCV002282099]	likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	1	97450190	97450190	Human	2	trait
11591529	CV287200	single nucleotide variant	NM_001430.5(EPAS1):c.1035-7C>G	EPAS1-related disorder [RCV003972423]\|Erythrocytosis, familial, 4 [RCV000329925]\|not provided [RCV001613097]\|sorafenib response - Toxicity [RCV003227743]	benign\|drug response	2	46376532	46376532	Human	1	trait
8564441	CV29785	single nucleotide variant	NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	Inosine triphosphatase deficiency [RCV000015867]\|not provided [RCV001711071]\|not specified [RCV001804735]\|peginterferon alfa-2b and ribavirin response - Toxicity [RCV001787323]	pathogenic\|affects\|benign\|likely benign\|drug response	20	3213196	3213196	Human	12	trait
8564441	CV29785	single nucleotide variant	NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	Inosine triphosphatase deficiency [RCV000015867]\|not provided [RCV001711071]\|not specified [RCV001804735]\|peginterferon alfa-2b and ribavirin response - Toxicity [RCV001787323]	pathogenic\|affects\|benign\|likely benign\|drug response	20	3213196	3213197	Human	12	trait
8564442	CV29786	single nucleotide variant	NM_033453.4(ITPA):c.124+21A>C	Developmental and epileptic encephalopathy, 35 [RCV001730474]\|Inosine triphosphatase deficiency [RCV000015868]\|not provided [RCV001675581]\|peginterferon alfa-2b and ribavirin response - Toxicity [RCV001787329]	pathogenic\|affects\|benign\|drug response	20	3213247	3213247	Human	5	trait
8564442	CV29786	single nucleotide variant	NM_033453.4(ITPA):c.124+21A>C	Developmental and epileptic encephalopathy, 35 [RCV001730474]\|Inosine triphosphatase deficiency [RCV000015868]\|not provided [RCV001675581]\|peginterferon alfa-2b and ribavirin response - Toxicity [RCV001787329]	pathogenic\|affects\|benign\|drug response	20	3213247	3213248	Human	5	trait
8600597	CV32536	single nucleotide variant	NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)	Lung cancer susceptibility 2 [RCV000019049]\|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 [RCV000033213]\|Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein [RCV003234914]\|nicotine response - Toxicity [RCV001 ... (more) 787807]	risk factor\|drug response\|uncertain significance	15	78590583	78590583	Human	17	trait
8600597	CV32536	single nucleotide variant	NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)	Lung cancer susceptibility 2 [RCV000019049]\|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 [RCV000033213]\|Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein [RCV003234914]\|nicotine response - Toxicity [RCV001 ... (more) 787807]	risk factor\|drug response\|uncertain significance	15	78590583	78590584	Human	17	trait
8600981	CV33429	single nucleotide variant	NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys)	ALDH2-related disorder [RCV005357155]\|AMED syndrome, digenic [RCV001290000]\|Alcohol dependence [RCV000020059]\|Alcohol sensitivity, acute [RCV000020058]\|ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO [RCV000020062]\|SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO [RCV000020061]\|Sus ... (more) ceptibility to hangover [RCV000020060]\|ethanol response - Toxicity [RCV001787815]	pathogenic\|risk factor\|drug response\|protective\|uncertain significance	12	111803962	111803962	Human	101	trait
8566899	CV34164	single nucleotide variant	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	Association with valproate-induced liver toxicity [RCV000999632]\|Fanconi anemia [RCV000386578]\|Hereditary spastic paraplegia [RCV001847611]\|Inborn genetic diseases [RCV002311518]\|Mitochondrial disease [RCV000020476]\|POLG-Related Spectrum Disorders [RCV001119316] ... (more) \|Progressive sclerosing poliodystrophy [RCV000469563]\|Progressive sclerosing poliodystrophy [RCV000755650]\|not provided [RCV000676317]\|not specified [RCV000118018]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided	15	89318595	89318595	Human	13	trait

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