Cdt1 Variant Search Result - Rat Genome Database

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477 records found for search term Cdt1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8659196	CV134112	single nucleotide variant	NM_030928.4(CDT1):c.*6G>C	not provided [RCV001689644]\|not specified [RCV000116635]	benign	16	88808284	88808284	Human		name
11638734	CV265801	single nucleotide variant	NM_030928.4(CDT1):c.*9G>A	not provided [RCV000724918]\|not specified [RCV000309045]	uncertain significance	16	88808287	88808287	Human		name
150441925	CV1233617	single nucleotide variant	NM_030928.4(CDT1):c.*92C>T	not provided [RCV001645305]	benign	16	88808370	88808370	Human		name
150485495	CV1274014	single nucleotide variant	NM_030928.4(CDT1):c.*43C>G	not provided [RCV001698732]	benign	16	88808321	88808321	Human		name
150472865	CV1235130	single nucleotide variant	NM_030928.4(CDT1):c.*201G>A	not provided [RCV001651499]	benign	16	88808479	88808479	Human		name
150432247	CV1236697	single nucleotide variant	NM_030928.4(CDT1):c.*302G>A	not provided [RCV001642101]	benign	16	88808580	88808580	Human		name
150482559	CV1247474	single nucleotide variant	NM_030928.4(CDT1):c.*245C>T	not provided [RCV001673300]	benign	16	88808523	88808523	Human		name
127303202	CV1125745	single nucleotide variant	NM_030928.4(CDT1):c.229-7C>G	not provided [RCV001454660]\|not specified [RCV001820146]	likely benign	16	88804538	88804538	Human		name
150535294	CV1294297	single nucleotide variant	NM_030928.4(CDT1):c.686+5G>A	not provided [RCV001758315]	uncertain significance	16	88805642	88805642	Human		name
150536837	CV1314318	duplication	NM_030928.4(CDT1):c.686+1dup	Meier-Gorlin syndrome 4 [RCV001780744]	likely pathogenic	16	88805636	88805637	Human		name
151883803	CV1338166	single nucleotide variant	NM_030928.4(CDT1):c.229-3C>T	not provided [RCV001962205]	uncertain significance	16	88804542	88804542	Human		name
8657516	CV134113	single nucleotide variant	NM_030928.4(CDT1):c.832+1G>A	Meier-Gorlin syndrome 4 [RCV000116636]\|not provided [RCV001241232]	pathogenic\|likely pathogenic	16	88805870	88805870	Human	1	name
151794682	CV1448734	single nucleotide variant	NM_030928.4(CDT1):c.686+5G>C	not provided [RCV001990397]	uncertain significance	16	88805642	88805642	Human		name
151847010	CV1483904	single nucleotide variant	NM_030928.4(CDT1):c.933+3G>A	CDT1-related disorder [RCV003956440]\|not provided [RCV001903567]	likely benign\|uncertain significance	16	88806124	88806124	Human	1	name , trait , alternate_id
156237719	CV1992416	single nucleotide variant	NM_030928.4(CDT1):c.933+6C>T	not provided [RCV002627027]	uncertain significance	16	88806127	88806127	Human		name
156055072	CV2089819	single nucleotide variant	NM_030928.4(CDT1):c.934-6C>T	not provided [RCV002867912]	likely benign	16	88806480	88806480	Human		name
156009685	CV2124496	single nucleotide variant	NM_030928.4(CDT1):c.351+8G>T	not provided [RCV002948193]	likely benign	16	88804675	88804675	Human		name
155941741	CV2129897	single nucleotide variant	NM_030928.4(CDT1):c.832+2T>G	not provided [RCV002971330]	likely pathogenic	16	88805871	88805871	Human		name
405218073	CV3048870	single nucleotide variant	NM_030928.4(CDT1):c.832+7G>C	not provided [RCV003732845]	likely benign	16	88805876	88805876	Human		name
405250925	CV3053070	single nucleotide variant	NM_030928.4(CDT1):c.833-9G>A	not provided [RCV003721698]	likely benign	16	88806012	88806012	Human		name
405208515	CV3065428	deletion	NM_030928.4(CDT1):c.351+8del	not provided [RCV003731656]	benign	16	88804672	88804672	Human		name
597759158	CV3715788	single nucleotide variant	NM_030928.4(CDT1):c.352-7C>G	Meier-Gorlin syndrome 4 [RCV005017853]	uncertain significance	16	88804755	88804755	Human	1	name
597937180	CV3759542	single nucleotide variant	NM_030928.4(CDT1):c.687-6C>G	not provided [RCV005076662]	likely benign	16	88805718	88805718	Human		name
597863988	CV3823083	single nucleotide variant	NM_030928.4(CDT1):c.832+3G>A	not provided [RCV005175433]	uncertain significance	16	88805872	88805872	Human		name
13216209	CV429861	single nucleotide variant	NM_030928.4(CDT1):c.686+9C>T	not provided [RCV005091087]\|not specified [RCV000503485]	likely benign\|uncertain significance	16	88805646	88805646	Human		name
15164323	CV744943	deletion	NM_030928.4(CDT1):c.352-6del	not provided [RCV000903977]	benign	16	88804752	88804752	Human		name
150489121	CV1265362	single nucleotide variant	NM_030928.4(CDT1):c.488+65G>A	not provided [RCV001687398]	benign	16	88804963	88804963	Human		name
150451715	CV1276631	single nucleotide variant	NM_030928.4(CDT1):c.934-58T>C	not provided [RCV001708420]	benign	16	88806428	88806428	Human	1	name
150451715	CV1276631	single nucleotide variant	NM_030928.4(CDT1):c.934-58T>C	not provided [RCV001708420]	benign	16	88806428	88806429	Human	1	name
150543808	CV1295710	single nucleotide variant	NM_030928.4(CDT1):c.1478-1G>A	not provided [RCV001770940]	uncertain significance	16	88808114	88808114	Human		name
152110015	CV1551053	single nucleotide variant	NM_030928.4(CDT1):c.687-16C>T	not provided [RCV002152926]	likely benign	16	88805708	88805708	Human		name
152084087	CV1554837	single nucleotide variant	NM_030928.4(CDT1):c.833-19G>C	not provided [RCV002211806]	benign	16	88806002	88806002	Human		name
152171846	CV1598851	single nucleotide variant	NM_030928.4(CDT1):c.489-15C>T	not provided [RCV002143574]	likely benign	16	88805425	88805425	Human		name
152066601	CV1620213	single nucleotide variant	NM_030928.4(CDT1):c.229-13T>A	not provided [RCV002209430]	benign	16	88804532	88804532	Human		name
152122336	CV1631851	deletion	NM_030928.4(CDT1):c.488+16del	not provided [RCV002118006]	benign	16	88804912	88804912	Human		name
152129116	CV1639109	single nucleotide variant	NM_030928.4(CDT1):c.228+10G>A	not provided [RCV002155284]	likely benign	16	88804069	88804069	Human		name
152067921	CV1660177	single nucleotide variant	NM_030928.4(CDT1):c.933+20G>A	not provided [RCV002147682]	likely benign	16	88806141	88806141	Human		name
156293265	CV1926163	single nucleotide variant	NM_030928.4(CDT1):c.1477+5G>A	not provided [RCV002647288]	uncertain significance	16	88807487	88807487	Human		name
156443845	CV1941220	single nucleotide variant	NM_030928.4(CDT1):c.229-20C>T	not provided [RCV003114754]	likely benign	16	88804525	88804525	Human		name
156298873	CV1955461	single nucleotide variant	NM_030928.4(CDT1):c.488+17C>T	not provided [RCV002578139]	likely benign	16	88804915	88804915	Human		name
156125423	CV1962724	single nucleotide variant	NM_030928.4(CDT1):c.833-20G>A	not provided [RCV002572025]	likely benign	16	88806001	88806001	Human		name
156350846	CV1965411	single nucleotide variant	NM_030928.4(CDT1):c.352-13G>T	not provided [RCV002581050]	likely benign	16	88804749	88804749	Human		name
156324138	CV1972561	single nucleotide variant	NM_030928.4(CDT1):c.1275+8G>A	not provided [RCV002600422]	likely benign	16	88807211	88807211	Human		name
156399700	CV1982161	single nucleotide variant	NM_030928.4(CDT1):c.933+11C>T	not provided [RCV002635851]	likely benign	16	88806132	88806132	Human		name
155943883	CV2002948	single nucleotide variant	NM_030928.4(CDT1):c.228+20T>A	not provided [RCV002685633]	likely benign	16	88804079	88804079	Human		name
156175375	CV2038173	single nucleotide variant	NM_030928.4(CDT1):c.832+15C>T	not provided [RCV002741993]	likely benign	16	88805884	88805884	Human		name
156180272	CV2062388	single nucleotide variant	NM_030928.4(CDT1):c.934-11C>T	not provided [RCV002828280]	likely benign	16	88806475	88806475	Human		name
156308448	CV2076109	single nucleotide variant	NM_030928.4(CDT1):c.1275+7C>T	not provided [RCV002857525]	likely benign	16	88807210	88807210	Human		name
156261874	CV2191067	single nucleotide variant	NM_030928.4(CDT1):c.832+12G>T	not provided [RCV003044147]	likely benign	16	88805881	88805881	Human		name
11552485	CV255947	single nucleotide variant	NM_030928.4(CDT1):c.933+13C>T	not provided [RCV001683119]\|not specified [RCV000254443]	benign	16	88806134	88806134	Human		name
402519245	CV2856899	single nucleotide variant	NM_030928.4(CDT1):c.832+14G>T	not provided [RCV003575596]	likely benign	16	88805883	88805883	Human		name
402469092	CV2930687	single nucleotide variant	NM_030928.4(CDT1):c.228+17G>T	not provided [RCV003569958]	likely benign	16	88804076	88804076	Human		name
405148202	CV2960097	single nucleotide variant	NM_030928.4(CDT1):c.686+13G>A	not provided [RCV003669808]	likely benign	16	88805650	88805650	Human		name
405124413	CV2961548	single nucleotide variant	NM_030928.4(CDT1):c.687-18G>A	not provided [RCV003667725]	likely benign	16	88805706	88805706	Human		name
405216503	CV2977950	single nucleotide variant	NM_030928.4(CDT1):c.686+15G>A	not provided [RCV003709318]	likely benign	16	88805652	88805652	Human		name
405180736	CV3060469	single nucleotide variant	NM_030928.4(CDT1):c.687-10C>T	not provided [RCV003728645]	likely benign	16	88805714	88805714	Human		name
405136561	CV3115705	single nucleotide variant	NM_030928.4(CDT1):c.687-20C>T	not provided [RCV003816362]	likely benign	16	88805704	88805704	Human		name
405104076	CV3116367	single nucleotide variant	NM_030928.4(CDT1):c.1478-5C>T	not provided [RCV003812083]	likely benign	16	88808110	88808110	Human		name
405211266	CV3117717	single nucleotide variant	NM_030928.4(CDT1):c.686+11G>A	not provided [RCV003823316]	likely benign	16	88805648	88805648	Human		name
404997150	CV3123759	deletion	NM_030928.4(CDT1):c.352-14del	not provided [RCV003827665]	likely benign	16	88804748	88804748	Human		name
405214411	CV3128330	single nucleotide variant	NM_030928.4(CDT1):c.687-19C>T	not provided [RCV003823754]	likely benign	16	88805705	88805705	Human		name
405208328	CV3145606	single nucleotide variant	NM_030928.4(CDT1):c.833-17C>T	not provided [RCV003845336]	likely benign	16	88806004	88806004	Human		name
405287411	CV3210669	single nucleotide variant	NM_030928.4(CDT1):c.1276-7G>T	CDT1-related disorder [RCV003924433]	likely benign	16	88807274	88807274	Human		name , trait , alternate_id
597905902	CV3738673	single nucleotide variant	NM_030928.4(CDT1):c.229-15G>C	not provided [RCV005072907]	likely benign	16	88804530	88804530	Human		name
597898678	CV3740852	single nucleotide variant	NM_030928.4(CDT1):c.833-12C>T	not provided [RCV005072015]	likely benign	16	88806009	88806009	Human		name
597886777	CV3741798	single nucleotide variant	NM_030928.4(CDT1):c.229-17G>C	not provided [RCV005070517]	likely benign	16	88804528	88804528	Human		name
597870951	CV3749881	single nucleotide variant	NM_030928.4(CDT1):c.229-18T>C	not provided [RCV005068562]	likely benign	16	88804527	88804527	Human		name
597856551	CV3758810	single nucleotide variant	NM_030928.4(CDT1):c.833-20G>C	not provided [RCV005088770]	likely benign	16	88806001	88806001	Human		name
597962567	CV3809205	deletion	NM_030928.4(CDT1):c.686+15del	not provided [RCV005164107]	benign	16	88805648	88805648	Human		name
597959883	CV3811520	single nucleotide variant	NM_030928.4(CDT1):c.833-19G>A	not provided [RCV005163367]	likely benign	16	88806002	88806002	Human		name
597855126	CV3821763	single nucleotide variant	NM_030928.4(CDT1):c.352-12A>T	not provided [RCV005174241]	likely benign	16	88804750	88804750	Human		name
597840258	CV3825288	single nucleotide variant	NM_030928.4(CDT1):c.229-18T>G	not provided [RCV005171971]	likely benign	16	88804527	88804527	Human		name
597909962	CV3830119	single nucleotide variant	NM_030928.4(CDT1):c.933+14G>A	not provided [RCV005182689]	likely benign	16	88806135	88806135	Human		name
15169996	CV731116	single nucleotide variant	NM_030928.4(CDT1):c.686+10C>T	not provided [RCV000883387]	likely benign	16	88805647	88805647	Human		name
15097995	CV731117	single nucleotide variant	NM_030928.4(CDT1):c.687-10C>G	not provided [RCV000891634]	likely benign	16	88805714	88805714	Human		name
15134998	CV760494	single nucleotide variant	NM_030928.4(CDT1):c.1478-9C>T	not provided [RCV000920779]	likely benign	16	88808106	88808106	Human		name
15201637	CV760501	single nucleotide variant	NM_030928.4(CDT1):c.1123-5C>T	not provided [RCV000913197]	likely benign	16	88807046	88807046	Human		name
15111266	CV776594	single nucleotide variant	NM_030928.4(CDT1):c.1123-4G>A	CDT1-related disorder [RCV003913178]\|not provided [RCV000938716]	benign	16	88807047	88807047	Human	1	name , trait , alternate_id
127232648	CV1082543	single nucleotide variant	NM_030928.4(CDT1):c.1123-10C>T	not provided [RCV001413552]	likely benign	16	88807041	88807041	Human		name
127296177	CV1162252	single nucleotide variant	NM_030928.4(CDT1):c.1276-24A>G	Meier-Gorlin syndrome 4 [RCV001527362]	pathogenic	16	88807257	88807257	Human	1	name
150501766	CV1224280	single nucleotide variant	NM_030928.4(CDT1):c.1477+52G>A	not provided [RCV001620921]	benign	16	88807534	88807534	Human		name
150515844	CV1227686	single nucleotide variant	NM_030928.4(CDT1):c.933+102G>A	not provided [RCV001638961]	benign	16	88806223	88806223	Human		name
150476934	CV1251939	single nucleotide variant	NM_030928.4(CDT1):c.1276-22C>T	not provided [RCV001672138]	benign	16	88807259	88807259	Human		name
150441632	CV1265588	single nucleotide variant	NM_030928.4(CDT1):c.1123-45C>A	not provided [RCV001679292]	benign	16	88807006	88807006	Human		name
152123922	CV1562929	single nucleotide variant	NM_030928.4(CDT1):c.1477+13C>T	not provided [RCV002118195]	likely benign	16	88807495	88807495	Human		name
152029875	CV1565837	single nucleotide variant	NM_030928.4(CDT1):c.1276-20G>C	not provided [RCV002085953]	likely benign	16	88807261	88807261	Human		name
152131315	CV1598060	single nucleotide variant	NM_030928.4(CDT1):c.1275+19T>C	not provided [RCV002176837]	likely benign	16	88807222	88807222	Human		name
152032596	CV1643127	single nucleotide variant	NM_030928.4(CDT1):c.1122+11G>A	not provided [RCV002205004]	benign	16	88806685	88806685	Human		name
156156835	CV1967680	single nucleotide variant	NM_030928.4(CDT1):c.1276-15C>T	not provided [RCV002594327]	likely benign	16	88807266	88807266	Human		name
156405607	CV1994488	single nucleotide variant	NM_030928.4(CDT1):c.1477+18T>C	not provided [RCV002658349]	likely benign	16	88807500	88807500	Human		name
156184456	CV2020614	single nucleotide variant	NM_030928.4(CDT1):c.1276-13G>C	not provided [RCV002710885]	likely benign	16	88807268	88807268	Human		name
156262435	CV2059457	single nucleotide variant	NM_030928.4(CDT1):c.1275+11C>T	not provided [RCV002806373]	likely benign	16	88807214	88807214	Human		name
405045809	CV3150327	single nucleotide variant	NM_030928.4(CDT1):c.1123-11C>T	not provided [RCV003849121]	likely benign	16	88807040	88807040	Human		name
597885243	CV3799724	single nucleotide variant	NM_030928.4(CDT1):c.1477+12G>A	not provided [RCV005150391]	likely benign	16	88807494	88807494	Human		name
597976424	CV3829607	single nucleotide variant	NM_030928.4(CDT1):c.1123-13G>A	not provided [RCV005169874]	likely benign	16	88807038	88807038	Human		name
597926421	CV3855363	single nucleotide variant	NM_030928.4(CDT1):c.1478-14C>T	not provided [RCV005205962]	likely benign	16	88808101	88808101	Human		name
15178538	CV776210	single nucleotide variant	NM_030928.4(CDT1):c.1122+10C>T	not provided [RCV000929422]	likely benign	16	88806684	88806684	Human		name
150418120	CV1181444	single nucleotide variant	NM_030928.4(CDT1):c.1477+242G>A	not provided [RCV001550462]	likely benign	16	88807724	88807724	Human		name
150414766	CV1191865	single nucleotide variant	NM_030928.4(CDT1):c.1122+159C>T	not provided [RCV001567685]	likely benign	16	88806833	88806833	Human		name
150482674	CV1210006	single nucleotide variant	NM_030928.4(CDT1):c.1477+191G>A	not provided [RCV001590704]	likely benign	16	88807673	88807673	Human		name
150489323	CV1278909	single nucleotide variant	NM_030928.4(CDT1):c.1478-136T>A	not provided [RCV001716268]	benign	16	88807979	88807979	Human		name
151741303	CV1455426	duplication	NM_030928.4(CDT1):c.228+4_228+5dup	not provided [RCV002005842]	uncertain significance	16	88804061	88804062	Human		name
15129730	CV740489	single nucleotide variant	NM_030928.4(CDT1):c.15C>A (p.Arg5=)	not provided [RCV000897489]	benign	16	88803846	88803846	Human		name
151861288	CV1483175	single nucleotide variant	NM_030928.4(CDT1):c.4G>A (p.Glu2Lys)	not provided [RCV001883950]	uncertain significance	16	88803835	88803835	Human		name
152091202	CV1525857	single nucleotide variant	NM_030928.4(CDT1):c.90C>G (p.Pro30=)	not provided [RCV002150610]	likely benign	16	88803921	88803921	Human		name
156094315	CV1909992	single nucleotide variant	NM_030928.4(CDT1):c.45C>T (p.Pro15=)	not provided [RCV002592027]	likely benign	16	88803876	88803876	Human		name
155913383	CV2025955	deletion	NM_030928.4(CDT1):c.16del (p.Val6fs)	not provided [RCV002750300]	pathogenic	16	88803847	88803847	Human		name
156148416	CV2078793	single nucleotide variant	NM_030928.4(CDT1):c.57C>T (p.Arg19=)	not provided [RCV002872235]	likely benign	16	88803888	88803888	Human		name
155959473	CV2183337	single nucleotide variant	NM_030928.4(CDT1):c.8A>T (p.Gln3Leu)	not provided [RCV003032869]	uncertain significance	16	88803839	88803839	Human		name
404987018	CV3001638	deletion	NM_030928.4(CDT1):c.228+27_228+55del	not provided [RCV003691927]	likely benign	16	88804071	88804099	Human		name
597914938	CV3817600	single nucleotide variant	NM_030928.4(CDT1):c.63G>T (p.Ala21=)	not provided [RCV005154802]	likely benign	16	88803894	88803894	Human		name
597976418	CV3820157	single nucleotide variant	NM_030928.4(CDT1):c.78C>G (p.Ala26=)	not provided [RCV005169935]	likely benign	16	88803909	88803909	Human		name
13213516	CV429856	single nucleotide variant	NM_030928.4(CDT1):c.75G>T (p.Leu25=)	not provided [RCV000879834]\|not specified [RCV000500041]	benign\|likely benign	16	88803906	88803906	Human		name
126912217	CV1049957	single nucleotide variant	NM_030928.4(CDT1):c.10C>T (p.Arg4Cys)	not provided [RCV001369622]	uncertain significance	16	88803841	88803841	Human		name
8657514	CV134109	single nucleotide variant	NM_030928.4(CDT1):c.111C>T (p.Leu37=)	not provided [RCV000893834]\|not specified [RCV000116632]	benign\|uncertain significance	16	88803942	88803942	Human		name
8659204	CV134124	single nucleotide variant	NM_030928.4(CDT1):c.243T>C (p.Ser81=)	not provided [RCV001511301]\|not specified [RCV000116647]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88804559	88804559	Human		name
151788673	CV1479331	single nucleotide variant	NM_030928.4(CDT1):c.11G>T (p.Arg4Leu)	Inborn genetic diseases [RCV004038837]\|not provided [RCV002046886]	uncertain significance	16	88803842	88803842	Human	1	name
156164748	CV1971423	single nucleotide variant	NM_030928.4(CDT1):c.288G>A (p.Gln96=)	not provided [RCV002594588]	likely benign	16	88804604	88804604	Human		name
402475670	CV2916785	single nucleotide variant	NM_030928.4(CDT1):c.123C>G (p.Ala41=)	not provided [RCV003571383]	likely benign	16	88803954	88803954	Human		name
405126191	CV2958305	single nucleotide variant	NM_030928.4(CDT1):c.126C>G (p.Ser42=)	not provided [RCV003667857]	likely benign	16	88803957	88803957	Human		name
405189254	CV2987821	single nucleotide variant	NM_030928.4(CDT1):c.246C>A (p.Thr82=)	not provided [RCV003706313]	likely benign	16	88804562	88804562	Human		name
402503929	CV3007257	single nucleotide variant	NM_030928.4(CDT1):c.120G>C (p.Pro40=)	not provided [RCV003688783]	likely benign	16	88803951	88803951	Human		name
405165310	CV3018699	single nucleotide variant	NM_030928.4(CDT1):c.162C>T (p.Pro54=)	not provided [RCV003704221]	likely benign	16	88803993	88803993	Human		name
405147944	CV3024075	single nucleotide variant	NM_030928.4(CDT1):c.156C>T (p.Arg52=)	not provided [RCV003703016]	likely benign	16	88803987	88803987	Human		name
405088417	CV3025057	single nucleotide variant	NM_030928.4(CDT1):c.100A>C (p.Arg34=)	not provided [RCV003699564]	likely benign	16	88803931	88803931	Human		name
405208981	CV3145785	single nucleotide variant	NM_030928.4(CDT1):c.123C>T (p.Ala41=)	not provided [RCV003845515]	likely benign	16	88803954	88803954	Human		name
597934288	CV3750429	single nucleotide variant	NM_030928.4(CDT1):c.108A>G (p.Ala36=)	not provided [RCV005076354]	likely benign	16	88803939	88803939	Human		name
597975600	CV3828594	single nucleotide variant	NM_030928.4(CDT1):c.297G>A (p.Lys99=)	not provided [RCV005169223]	likely benign	16	88804613	88804613	Human		name
597944410	CV3847876	single nucleotide variant	NM_030928.4(CDT1):c.105C>T (p.Pro35=)	not provided [RCV005188605]	likely benign	16	88803936	88803936	Human		name
15177695	CV726916	single nucleotide variant	NM_030928.4(CDT1):c.252G>A (p.Glu84=)	not provided [RCV000884888]	benign	16	88804568	88804568	Human		name
15162564	CV755518	single nucleotide variant	NM_030928.4(CDT1):c.249C>T (p.Pro83=)	not provided [RCV000925918]	likely benign	16	88804565	88804565	Human		name
126743406	CV1012475	single nucleotide variant	NM_030928.4(CDT1):c.46G>A (p.Gly16Arg)	Inborn genetic diseases [RCV004034327]\|not provided [RCV001314794]	uncertain significance	16	88803877	88803877	Human	1	name
127257544	CV1082541	single nucleotide variant	NM_030928.4(CDT1):c.471C>G (p.Gly157=)	not provided [RCV001401489]	likely benign	16	88804881	88804881	Human		name
127262320	CV1082542	single nucleotide variant	NM_030928.4(CDT1):c.876G>A (p.Leu292=)	not provided [RCV001402615]	likely benign	16	88806064	88806064	Human		name
127262653	CV1104338	single nucleotide variant	NM_030928.4(CDT1):c.537C>T (p.Pro179=)	not provided [RCV001439043]	likely benign	16	88805488	88805488	Human		name
127317153	CV1157892	single nucleotide variant	NM_030928.4(CDT1):c.855G>A (p.Gln285=)	not provided [RCV001520919]\|not specified [RCV001821836]	benign\|likely benign	16	88806043	88806043	Human		name
8659206	CV134126	single nucleotide variant	NM_030928.4(CDT1):c.435G>A (p.Gln145=)	not provided [RCV000887227]\|not specified [RCV000116649]	benign\|likely benign	16	88804845	88804845	Human		name
8659208	CV134128	single nucleotide variant	NM_030928.4(CDT1):c.549A>G (p.Gly183=)	not provided [RCV001523128]\|not specified [RCV000116651]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88805500	88805500	Human		name
8659212	CV134132	single nucleotide variant	NM_030928.4(CDT1):c.915T>C (p.His305=)	Meier-Gorlin syndrome 4 [RCV000615225]\|not provided [RCV001523131]\|not specified [RCV000116655]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88806103	88806103	Human	1	name
151801261	CV1369345	single nucleotide variant	NM_030928.4(CDT1):c.492C>T (p.Gly164=)	not provided [RCV002028110]	likely benign\|uncertain significance	16	88805443	88805443	Human		name
151804345	CV1371790	single nucleotide variant	NM_030928.4(CDT1):c.732G>A (p.Pro244=)	CDT1-related disorder [RCV003948837]\|not provided [RCV001953220]	likely benign\|uncertain significance	16	88805769	88805769	Human	1	name , trait , alternate_id
151853017	CV1406806	single nucleotide variant	NM_030928.4(CDT1):c.58A>G (p.Ile20Val)	not provided [RCV002033424]	uncertain significance	16	88803889	88803889	Human		name
152129427	CV1549271	single nucleotide variant	NM_030928.4(CDT1):c.621C>T (p.Leu207=)	not provided [RCV002099282]	likely benign	16	88805572	88805572	Human		name
152040489	CV1649206	duplication	NM_030928.4(CDT1):c.1477+13_1477+34dup	not provided [RCV002206272]	likely benign	16	88807485	88807486	Human		name
152028217	CV1655133	single nucleotide variant	NM_030928.4(CDT1):c.609C>T (p.Ile203=)	not provided [RCV002105159]	likely benign	16	88805560	88805560	Human		name
152073626	CV1657586	single nucleotide variant	NM_030928.4(CDT1):c.723C>T (p.Thr241=)	not provided [RCV002210303]	likely benign	16	88805760	88805760	Human		name
152119801	CV1659304	single nucleotide variant	NM_030928.4(CDT1):c.795A>G (p.Ser265=)	not provided [RCV002175417]	likely benign	16	88805832	88805832	Human		name
152077818	CV1665940	single nucleotide variant	NM_030928.4(CDT1):c.717C>T (p.Ile239=)	not provided [RCV002092461]	likely benign	16	88805754	88805754	Human		name
156378823	CV1971620	single nucleotide variant	NM_030928.4(CDT1):c.432C>G (p.Ala144=)	not provided [RCV002603812]	likely benign	16	88804842	88804842	Human		name
156092243	CV2013995	single nucleotide variant	NM_030928.4(CDT1):c.501G>A (p.Ala167=)	not provided [RCV002694985]	likely benign	16	88805452	88805452	Human		name
155986568	CV2030483	single nucleotide variant	NM_030928.4(CDT1):c.867G>A (p.Ser289=)	not provided [RCV002755564]	likely benign	16	88806055	88806055	Human		name
156215164	CV2076674	single nucleotide variant	NM_030928.4(CDT1):c.852C>T (p.Pro284=)	not provided [RCV002875645]	likely benign	16	88806040	88806040	Human		name
10403788	CV208305	single nucleotide variant	NM_030928.4(CDT1):c.738C>T (p.Ser246=)	not provided [RCV000912057]\|not specified [RCV000193406]	benign\|likely benign\|uncertain significance	16	88805775	88805775	Human		name
156347697	CV2128833	single nucleotide variant	NM_030928.4(CDT1):c.840C>T (p.Asp280=)	not provided [RCV002966067]	likely benign	16	88806028	88806028	Human		name
156137640	CV2196273	single nucleotide variant	NM_030928.4(CDT1):c.32C>T (p.Ala11Val)	Inborn genetic diseases [RCV002641079]\|not provided [RCV005059184]	uncertain significance	16	88803863	88803863	Human	1	name
401935677	CV2817952	single nucleotide variant	NM_030928.4(CDT1):c.861G>A (p.Thr287=)	not provided [RCV003413032]	likely benign	16	88806049	88806049	Human		name
405167191	CV2857695	single nucleotide variant	NM_030928.4(CDT1):c.372G>A (p.Ala124=)	not provided [RCV003541882]	likely benign	16	88804782	88804782	Human		name
405092261	CV2878158	single nucleotide variant	NM_030928.4(CDT1):c.828G>A (p.Glu276=)	not provided [RCV003549984]	likely benign	16	88805865	88805865	Human		name
405224126	CV3035905	single nucleotide variant	NM_030928.4(CDT1):c.357C>T (p.Thr119=)	not provided [RCV003710403]	likely benign	16	88804767	88804767	Human		name
405083260	CV3046852	single nucleotide variant	NM_030928.4(CDT1):c.546G>A (p.Pro182=)	CDT1-related disorder [RCV003981064]\|not provided [RCV003717243]	likely benign	16	88805497	88805497	Human	1	name , trait , alternate_id
405245831	CV3051694	single nucleotide variant	NM_030928.4(CDT1):c.552C>T (p.Leu184=)	not provided [RCV003720404]	likely benign	16	88805503	88805503	Human		name
405143356	CV3056138	single nucleotide variant	NM_030928.4(CDT1):c.729C>T (p.Tyr243=)	not provided [RCV003725844]	likely benign	16	88805766	88805766	Human		name
405225306	CV3058423	single nucleotide variant	NM_030928.4(CDT1):c.813C>T (p.Ile271=)	not provided [RCV003733939]	likely benign	16	88805850	88805850	Human		name
405144047	CV3141393	single nucleotide variant	NM_030928.4(CDT1):c.888G>A (p.Gln296=)	not provided [RCV003839509]	likely benign	16	88806076	88806076	Human		name
402516387	CV3178897	single nucleotide variant	NM_030928.4(CDT1):c.975G>A (p.Glu325=)	not provided [RCV003879330]	likely benign	16	88806527	88806527	Human		name
405743597	CV3303635	single nucleotide variant	NM_030928.4(CDT1):c.58A>C (p.Ile20Leu)	Inborn genetic diseases [RCV004431085]	uncertain significance	16	88803889	88803889	Human	1	name
597655070	CV3648786	single nucleotide variant	NM_030928.4(CDT1):c.97G>A (p.Ala33Thr)	Inborn genetic diseases [RCV004976316]	uncertain significance	16	88803928	88803928	Human	1	name
597917457	CV3741166	single nucleotide variant	NM_030928.4(CDT1):c.948C>T (p.Ser316=)	not provided [RCV005074313]	likely benign	16	88806500	88806500	Human		name
597967204	CV3751776	single nucleotide variant	NM_030928.4(CDT1):c.633C>T (p.Ser211=)	not provided [RCV005083146]	likely benign	16	88805584	88805584	Human		name
597832905	CV3760333	microsatellite	NM_030928.4(CDT1):c.1478-14_1478-12del	not provided [RCV005085076]	likely benign	16	88808096	88808098	Human		name
597863403	CV3766875	single nucleotide variant	NM_030928.4(CDT1):c.972G>A (p.Pro324=)	not provided [RCV005106397]	likely benign	16	88806524	88806524	Human		name
597912139	CV3778359	single nucleotide variant	NM_030928.4(CDT1):c.909G>A (p.Val303=)	not provided [RCV005128898]	likely benign	16	88806097	88806097	Human		name
597917157	CV3789530	single nucleotide variant	NM_030928.4(CDT1):c.49C>T (p.Pro17Ser)	not provided [RCV005129625]	uncertain significance	16	88803880	88803880	Human		name
597973795	CV3801589	single nucleotide variant	NM_030928.4(CDT1):c.651C>G (p.Ala217=)	not provided [RCV005143578]	likely benign	16	88805602	88805602	Human		name
597853371	CV3805797	single nucleotide variant	NM_030928.4(CDT1):c.645C>A (p.Thr215=)	not provided [RCV005145727]	likely benign	16	88805596	88805596	Human		name
597945063	CV3844152	single nucleotide variant	NM_030928.4(CDT1):c.777G>A (p.Lys259=)	not provided [RCV005188761]	likely benign	16	88805814	88805814	Human		name
15164455	CV715197	single nucleotide variant	NM_030928.4(CDT1):c.465C>T (p.Ala155=)	not provided [RCV000970723]	benign	16	88804875	88804875	Human		name
15166634	CV755519	single nucleotide variant	NM_030928.4(CDT1):c.441T>C (p.Ala147=)	not provided [RCV000926913]	likely benign	16	88804851	88804851	Human		name
15114108	CV755520	single nucleotide variant	NM_030928.4(CDT1):c.468G>A (p.Glu156=)	not provided [RCV000917215]	likely benign	16	88804878	88804878	Human		name
15138673	CV755521	single nucleotide variant	NM_030928.4(CDT1):c.582G>A (p.Ala194=)	not provided [RCV000921376]	likely benign	16	88805533	88805533	Human		name
15148282	CV755522	single nucleotide variant	NM_030928.4(CDT1):c.639G>A (p.Thr213=)	not provided [RCV000923066]	likely benign	16	88805590	88805590	Human		name
15140728	CV755523	single nucleotide variant	NM_030928.4(CDT1):c.651C>T (p.Ala217=)	not provided [RCV000921723]	likely benign	16	88805602	88805602	Human		name
15186047	CV771177	single nucleotide variant	NM_030928.4(CDT1):c.759C>T (p.Arg253=)	not provided [RCV000931238]	likely benign	16	88805796	88805796	Human		name
15194875	CV771178	single nucleotide variant	NM_030928.4(CDT1):c.768C>T (p.Pro256=)	not provided [RCV000933770]	benign\|likely benign	16	88805805	88805805	Human		name
15144456	CV785425	single nucleotide variant	NM_030928.4(CDT1):c.999G>A (p.Pro333=)	Meier-Gorlin syndrome 4 [RCV002503140]\|not provided [RCV000983494]	likely benign	16	88806551	88806551	Human	1	name
126762519	CV997231	single nucleotide variant	NM_030928.4(CDT1):c.56G>A (p.Arg19His)	not provided [RCV001309912]	uncertain significance	16	88803887	88803887	Human		name
127283729	CV1082544	single nucleotide variant	NM_030928.4(CDT1):c.1267C>T (p.Leu423=)	not provided [RCV001411987]	likely benign	16	88807195	88807195	Human		name
127328501	CV1146628	single nucleotide variant	NM_030928.4(CDT1):c.1566G>A (p.Lys522=)	not provided [RCV001486808]	likely benign	16	88808203	88808203	Human		name
151354960	CV1328027	single nucleotide variant	NM_030928.4(CDT1):c.268G>A (p.Ala90Thr)	Inborn genetic diseases [RCV003299021]\|not specified [RCV001819503]	uncertain significance	16	88804584	88804584	Human	1	name
8659195	CV134110	single nucleotide variant	NM_030928.4(CDT1):c.1221G>A (p.Pro407=)	CDT1-related disorder [RCV003925131]\|not provided [RCV000887068]\|not specified [RCV000116633]	benign\|likely benign	16	88807149	88807149	Human	1	name , trait , alternate_id
8659229	CV134115	single nucleotide variant	NM_030928.4(CDT1):c.1179G>C (p.Gly393=)	not provided [RCV000959333]\|not specified [RCV000116638]	benign\|likely benign	16	88807107	88807107	Human		name
8657518	CV134116	single nucleotide variant	NM_030928.4(CDT1):c.130A>C (p.Thr44Pro)	not provided [RCV000966015]\|not specified [RCV000116639]	benign\|uncertain significance	16	88803961	88803961	Human		name
8659198	CV134118	single nucleotide variant	NM_030928.4(CDT1):c.1377C>T (p.Arg459=)	not provided [RCV001520643]\|not specified [RCV000116641]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88807382	88807382	Human		name
8659199	CV134119	single nucleotide variant	NM_030928.4(CDT1):c.1500G>T (p.Leu500=)	not provided [RCV001523132]\|not specified [RCV000116642]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88808137	88808137	Human		name
8659200	CV134120	single nucleotide variant	NM_030928.4(CDT1):c.1521G>A (p.Pro507=)	Adenine phosphoribosyltransferase deficiency [RCV002505041]\|not provided [RCV000970314]\|not specified [RCV000116643]	benign\|likely benign	16	88808158	88808158	Human	1	name
8659201	CV134121	single nucleotide variant	NM_030928.4(CDT1):c.1581G>A (p.Ala527=)	not provided [RCV000882894]\|not specified [RCV000116644]	benign\|likely benign	16	88808218	88808218	Human		name
8659202	CV134122	single nucleotide variant	NM_030928.4(CDT1):c.1587C>G (p.Leu529=)	Meier-Gorlin syndrome 4 [RCV001579290]\|not provided [RCV001523133]\|not specified [RCV000116645]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88808224	88808224	Human	1	name
151818850	CV1420893	single nucleotide variant	NM_030928.4(CDT1):c.218C>G (p.Ser73Trp)	not provided [RCV002049588]	uncertain significance	16	88804049	88804049	Human		name
151762895	CV1425571	single nucleotide variant	NM_030928.4(CDT1):c.291G>C (p.Lys97Asn)	not provided [RCV001928732]	uncertain significance	16	88804607	88804607	Human		name
151749269	CV1460476	single nucleotide variant	NM_030928.4(CDT1):c.184G>A (p.Ala62Thr)	not provided [RCV001894159]	uncertain significance	16	88804015	88804015	Human		name
151834707	CV1474472	single nucleotide variant	NM_030928.4(CDT1):c.212G>T (p.Arg71Leu)	not provided [RCV001920847]	uncertain significance	16	88804043	88804043	Human		name
151769327	CV1481637	single nucleotide variant	NM_030928.4(CDT1):c.142C>A (p.Arg48Ser)	not provided [RCV002008692]	uncertain significance	16	88803973	88803973	Human		name
151770873	CV1514796	single nucleotide variant	NM_030928.4(CDT1):c.242G>A (p.Ser81Asn)	not provided [RCV002045232]	uncertain significance	16	88804558	88804558	Human		name
152058186	CV1523300	single nucleotide variant	NM_030928.4(CDT1):c.1401C>T (p.Ser467=)	not provided [RCV002167697]	likely benign	16	88807406	88807406	Human		name
152136827	CV1537857	single nucleotide variant	NM_030928.4(CDT1):c.1257C>G (p.Ser419=)	not provided [RCV002177531]	likely benign	16	88807185	88807185	Human		name
152076304	CV1542847	single nucleotide variant	NM_030928.4(CDT1):c.1578C>T (p.Ala526=)	not provided [RCV002130264]	likely benign	16	88808215	88808215	Human		name
152161508	CV1555426	single nucleotide variant	NM_030928.4(CDT1):c.1317G>A (p.Thr439=)	not provided [RCV002103886]	likely benign	16	88807322	88807322	Human		name
152154276	CV1560747	single nucleotide variant	NM_030928.4(CDT1):c.1389C>T (p.Ser463=)	not provided [RCV002102707]\|not specified [RCV003491035]	likely benign	16	88807394	88807394	Human		name
152070163	CV1579732	single nucleotide variant	NM_030928.4(CDT1):c.1509C>T (p.Ser503=)	not provided [RCV002074995]	likely benign	16	88808146	88808146	Human		name
152037773	CV1605710	single nucleotide variant	NM_030928.4(CDT1):c.1419C>G (p.Leu473=)	not provided [RCV002087499]	likely benign	16	88807424	88807424	Human		name
152147135	CV1635590	single nucleotide variant	NM_030928.4(CDT1):c.1587C>T (p.Leu529=)	not provided [RCV002201404]	likely benign	16	88808224	88808224	Human		name
152082128	CV1641471	single nucleotide variant	NM_030928.4(CDT1):c.1150C>T (p.Leu384=)	not provided [RCV002211556]	likely benign	16	88807078	88807078	Human		name
152063989	CV1644895	single nucleotide variant	NM_030928.4(CDT1):c.1515G>A (p.Leu505=)	not provided [RCV002147147]	likely benign	16	88808152	88808152	Human		name
156281896	CV1967977	single nucleotide variant	NM_030928.4(CDT1):c.1521G>C (p.Pro507=)	not provided [RCV002598422]	likely benign	16	88808158	88808158	Human		name
156071488	CV1988969	single nucleotide variant	NM_030928.4(CDT1):c.158C>T (p.Pro53Leu)	Inborn genetic diseases [RCV003357963]\|not provided [RCV002638613]	uncertain significance	16	88803989	88803989	Human	1	name
156113871	CV1998674	single nucleotide variant	NM_030928.4(CDT1):c.160C>T (p.Pro54Ser)	not provided [RCV002640048]	uncertain significance	16	88803991	88803991	Human		name
156275245	CV2014912	single nucleotide variant	NM_030928.4(CDT1):c.1626T>C (p.Ala542=)	not provided [RCV002715117]	likely benign	16	88808263	88808263	Human		name
156028277	CV2039724	single nucleotide variant	NM_030928.4(CDT1):c.278C>T (p.Ser93Phe)	not provided [RCV002781000]	uncertain significance	16	88804594	88804594	Human		name
156021888	CV2141356	single nucleotide variant	NM_030928.4(CDT1):c.277T>C (p.Ser93Pro)	Inborn genetic diseases [RCV004065049]\|not provided [RCV002976194]	uncertain significance	16	88804593	88804593	Human	1	name
156254167	CV2193219	single nucleotide variant	NM_030928.4(CDT1):c.220G>C (p.Val74Leu)	Inborn genetic diseases [RCV002668564]	uncertain significance	16	88804051	88804051	Human	1	name
243055057	CV2407241	single nucleotide variant	NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)	Meier-Gorlin syndrome 4 [RCV003144791]	uncertain significance	16	88804576	88804576	Human	1	name
401763601	CV2714611	single nucleotide variant	NM_030928.4(CDT1):c.254C>T (p.Ala85Val)	Inborn genetic diseases [RCV003258262]	uncertain significance	16	88804570	88804570	Human	1	name
401911947	CV2817953	single nucleotide variant	NM_030928.4(CDT1):c.1560C>T (p.Tyr520=)	not provided [RCV003426906]	likely benign	16	88808197	88808197	Human		name
404985792	CV2852350	single nucleotide variant	NM_030928.4(CDT1):c.1635G>A (p.Gly545=)	not specified [RCV003489590]	likely benign	16	88808272	88808272	Human		name
405165073	CV2905677	single nucleotide variant	NM_030928.4(CDT1):c.1144T>C (p.Leu382=)	not provided [RCV003562622]	likely benign	16	88807072	88807072	Human		name
405191973	CV2964852	single nucleotide variant	NM_030928.4(CDT1):c.1521G>T (p.Pro507=)	not provided [RCV003677217]	likely benign	16	88808158	88808158	Human		name
405192085	CV2964997	single nucleotide variant	NM_030928.4(CDT1):c.1243C>T (p.Leu415=)	not provided [RCV003677296]	likely benign	16	88807171	88807171	Human		name
405214610	CV2981459	single nucleotide variant	NM_030928.4(CDT1):c.293T>C (p.Ile98Thr)	not provided [RCV003709150]	uncertain significance	16	88804609	88804609	Human		name
405233626	CV2981845	single nucleotide variant	NM_030928.4(CDT1):c.109C>T (p.Leu37Phe)	not provided [RCV003711929]	uncertain significance	16	88803940	88803940	Human		name
405091783	CV3044709	single nucleotide variant	NM_030928.4(CDT1):c.1002C>T (p.Arg334=)	not provided [RCV003717735]	likely benign	16	88806554	88806554	Human		name
405132406	CV3051282	single nucleotide variant	NM_030928.4(CDT1):c.1599T>G (p.Thr533=)	not provided [RCV003724944]	likely benign	16	88808236	88808236	Human		name
405179350	CV3060444	single nucleotide variant	NM_030928.4(CDT1):c.1143A>G (p.Gln381=)	not provided [RCV003728629]	likely benign	16	88807071	88807071	Human		name
405194398	CV3066359	single nucleotide variant	NM_030928.4(CDT1):c.1035G>A (p.Pro345=)	not provided [RCV003729979]	likely benign	16	88806587	88806587	Human		name
405179174	CV3119742	single nucleotide variant	NM_030928.4(CDT1):c.1083G>A (p.Gln361=)	not provided [RCV003819835]	uncertain significance	16	88806635	88806635	Human		name
405142318	CV3155408	single nucleotide variant	NM_030928.4(CDT1):c.1272G>A (p.Glu424=)	not provided [RCV003855646]	likely benign	16	88807200	88807200	Human		name
402466271	CV3173583	single nucleotide variant	NM_030928.4(CDT1):c.1008C>T (p.Asn336=)	not provided [RCV003873057]	likely benign	16	88806560	88806560	Human		name
405291774	CV3206027	single nucleotide variant	NM_030928.4(CDT1):c.1107C>T (p.Asn369=)	CDT1-related disorder [RCV003964116]\|not provided [RCV005064888]	likely benign	16	88806659	88806659	Human	1	name , trait , alternate_id
405743540	CV3303626	single nucleotide variant	NM_030928.4(CDT1):c.116C>T (p.Ala39Val)	Inborn genetic diseases [RCV004431076]	uncertain significance	16	88803947	88803947	Human	1	name
405743560	CV3303629	single nucleotide variant	NM_030928.4(CDT1):c.152C>T (p.Ala51Val)	Inborn genetic diseases [RCV004431079]	uncertain significance	16	88803983	88803983	Human	1	name
407460713	CV3418701	single nucleotide variant	NM_030928.4(CDT1):c.287A>G (p.Gln96Arg)	Inborn genetic diseases [RCV004612402]	uncertain significance	16	88804603	88804603	Human	1	name
597655117	CV3648794	single nucleotide variant	NM_030928.4(CDT1):c.295A>G (p.Lys99Glu)	Inborn genetic diseases [RCV004976324]	uncertain significance	16	88804611	88804611	Human	1	name
597909234	CV3749503	single nucleotide variant	NM_030928.4(CDT1):c.1179G>A (p.Gly393=)	not provided [RCV005073351]	likely benign	16	88807107	88807107	Human		name
597962563	CV3753733	single nucleotide variant	NM_030928.4(CDT1):c.1437T>C (p.Cys479=)	not provided [RCV005082037]	likely benign	16	88807442	88807442	Human		name
597838028	CV3758135	single nucleotide variant	NM_030928.4(CDT1):c.1038C>T (p.Ala346=)	not provided [RCV005085969]	likely benign	16	88806590	88806590	Human		name
597884706	CV3780639	single nucleotide variant	NM_030928.4(CDT1):c.1191A>G (p.Pro397=)	not provided [RCV005124767]	likely benign	16	88807119	88807119	Human		name
597899624	CV3782915	single nucleotide variant	NM_030928.4(CDT1):c.1026C>T (p.Asp342=)	not provided [RCV005126935]	likely benign	16	88806578	88806578	Human		name
598240788	CV3940431	single nucleotide variant	NM_030928.4(CDT1):c.100A>G (p.Arg34Gly)	Inborn genetic diseases [RCV005321442]	uncertain significance	16	88803931	88803931	Human	1	name
598193643	CV3940432	single nucleotide variant	NM_030928.4(CDT1):c.284G>A (p.Gly95Asp)	Inborn genetic diseases [RCV005313022]	uncertain significance	16	88804600	88804600	Human	1	name
8602243	CV39458	single nucleotide variant	NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)	Meier-Gorlin syndrome 4 [RCV000023458]	pathogenic	16	88804027	88804027	Human	1	name
13214705	CV429857	single nucleotide variant	NM_030928.4(CDT1):c.172G>C (p.Gly58Arg)	Inborn genetic diseases [RCV002524165]\|not provided [RCV001857081]\|not specified [RCV000501513]	uncertain significance	16	88804003	88804003	Human	1	name
13216081	CV429858	single nucleotide variant	NM_030928.4(CDT1):c.185C>T (p.Ala62Val)	not provided [RCV000970020]\|not specified [RCV000503296]	benign\|uncertain significance	16	88804016	88804016	Human		name
13213872	CV429859	single nucleotide variant	NM_030928.4(CDT1):c.292A>G (p.Ile98Val)	CDT1-related disorder [RCV004758025]\|not provided [RCV000910695]\|not specified [RCV000500555]	benign\|likely benign	16	88804608	88804608	Human	1	name , trait , alternate_id
13214442	CV429868	single nucleotide variant	NM_030928.4(CDT1):c.1629G>A (p.Glu543=)	not provided [RCV000887230]\|not specified [RCV000501133]	likely benign	16	88808266	88808266	Human		name
15176562	CV715196	single nucleotide variant	NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)	Meier-Gorlin syndrome 4 [RCV000989650]\|not provided [RCV000973215]	benign\|likely benign	16	88804564	88804564	Human	1	name
15188283	CV740490	single nucleotide variant	NM_030928.4(CDT1):c.1176C>T (p.Pro392=)	not provided [RCV000909326]	likely benign	16	88807104	88807104	Human		name
15123485	CV740491	single nucleotide variant	NM_030928.4(CDT1):c.1296G>A (p.Gln432=)	not provided [RCV000896420]	likely benign	16	88807301	88807301	Human		name
15126442	CV740493	single nucleotide variant	NM_030928.4(CDT1):c.1551C>T (p.Thr517=)	not provided [RCV000896934]	likely benign	16	88808188	88808188	Human		name
15193524	CV755525	single nucleotide variant	NM_030928.4(CDT1):c.1023C>T (p.Pro341=)	CDT1-related disorder [RCV003958317]\|not provided [RCV000910864]	likely benign	16	88806575	88806575	Human	1	name , trait , alternate_id
15194452	CV755526	single nucleotide variant	NM_030928.4(CDT1):c.1200G>A (p.Pro400=)	not provided [RCV000911130]	likely benign	16	88807128	88807128	Human		name
15156058	CV755527	single nucleotide variant	NM_030928.4(CDT1):c.1206C>T (p.Thr402=)	CDT1-related disorder [RCV003923312]\|not provided [RCV000924591]	likely benign	16	88807134	88807134	Human	1	name , trait , alternate_id
15140513	CV755528	single nucleotide variant	NM_030928.4(CDT1):c.1599T>C (p.Thr533=)	not provided [RCV000921688]	likely benign	16	88808236	88808236	Human		name
126772053	CV1032972	single nucleotide variant	NM_030928.4(CDT1):c.317G>T (p.Gly106Val)	Inborn genetic diseases [RCV004611775]\|not provided [RCV001345396]	uncertain significance	16	88804633	88804633	Human	1	name
126727820	CV1032973	single nucleotide variant	NM_030928.4(CDT1):c.412C>T (p.Arg138Trp)	not provided [RCV001348784]	uncertain significance	16	88804822	88804822	Human		name
126770979	CV1032974	single nucleotide variant	NM_030928.4(CDT1):c.757C>T (p.Arg253Cys)	Inborn genetic diseases [RCV005306418]\|not provided [RCV001344779]	uncertain significance	16	88805794	88805794	Human	1	name
126922875	CV1049958	single nucleotide variant	NM_030928.4(CDT1):c.640C>T (p.Pro214Ser)	not provided [RCV001365184]	uncertain significance	16	88805591	88805591	Human		name
127327516	CV1146627	single nucleotide variant	NM_030928.4(CDT1):c.473G>A (p.Arg158His)	not provided [RCV001506661]	likely benign	16	88804883	88804883	Human		name
150536839	CV1314319	single nucleotide variant	NM_030928.4(CDT1):c.802C>T (p.Gln268Ter)	Meier-Gorlin syndrome 4 [RCV001780745]	likely pathogenic	16	88805839	88805839	Human	1	name
151356054	CV1328818	single nucleotide variant	NM_030928.4(CDT1):c.535C>A (p.Pro179Thr)	not specified [RCV001822407]	uncertain significance	16	88805486	88805486	Human		name
151776876	CV1336916	single nucleotide variant	NM_030928.4(CDT1):c.860C>T (p.Thr287Met)	not provided [RCV002025891]	uncertain significance	16	88806048	88806048	Human		name
151817638	CV1337470	single nucleotide variant	NM_030928.4(CDT1):c.409G>C (p.Val137Leu)	not provided [RCV001919247]	uncertain significance	16	88804819	88804819	Human		name
151817675	CV1337473	single nucleotide variant	NM_030928.4(CDT1):c.422A>G (p.Lys141Arg)	Inborn genetic diseases [RCV004044132]\|not provided [RCV001919250]	likely benign\|uncertain significance	16	88804832	88804832	Human	1	name
8657517	CV134114	single nucleotide variant	NM_030928.4(CDT1):c.900G>C (p.Gln300His)	CDT1-related disorder [RCV003952566]\|Inborn genetic diseases [RCV004975275]\|not provided [RCV000116637]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	88806088	88806088	Human	2	name , trait , alternate_id
8659205	CV134125	single nucleotide variant	NM_030928.4(CDT1):c.404C>T (p.Ala135Val)	not provided [RCV000966016]\|not specified [RCV000116648]	benign	16	88804814	88804814	Human		name
8659207	CV134127	single nucleotide variant	NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)	CDT1-related disorder [RCV003964978]\|Inborn genetic diseases [RCV004975276]\|not provided [RCV000116650]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	88805465	88805465	Human	2	name , trait , alternate_id
8659209	CV134129	single nucleotide variant	NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)	Meier-Gorlin syndrome 4 [RCV000612563]\|not provided [RCV001523129]\|not specified [RCV000116652]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88805737	88805737	Human	1	name
8659210	CV134130	single nucleotide variant	NM_030928.4(CDT1):c.742C>T (p.Arg248Cys)	not provided [RCV000116653]	uncertain significance	16	88805779	88805779	Human		name
8659211	CV134131	single nucleotide variant	NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)	Meier-Gorlin syndrome 4 [RCV001579289]\|not provided [RCV001523130]\|not specified [RCV000116654]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	88805821	88805821	Human	1	name
151796407	CV1347836	single nucleotide variant	NM_030928.4(CDT1):c.391C>T (p.Arg131Trp)	not provided [RCV001990544]	uncertain significance	16	88804801	88804801	Human		name
151789514	CV1394246	single nucleotide variant	NM_030928.4(CDT1):c.542T>C (p.Leu181Pro)	not provided [RCV002046964]	uncertain significance	16	88805493	88805493	Human		name
151719189	CV1397524	single nucleotide variant	NM_030928.4(CDT1):c.731C>T (p.Pro244Leu)	Inborn genetic diseases [RCV002562914]\|not provided [RCV001982793]	uncertain significance	16	88805768	88805768	Human	1	name
151858688	CV1399995	single nucleotide variant	NM_030928.4(CDT1):c.841G>A (p.Gly281Arg)	Meier-Gorlin syndrome 4 [RCV005016850]\|not provided [RCV001923723]	uncertain significance	16	88806029	88806029	Human	1	name
151712216	CV1400293	single nucleotide variant	NM_030928.4(CDT1):c.538G>A (p.Gly180Ser)	not provided [RCV002002214]	uncertain significance	16	88805489	88805489	Human		name
151773691	CV1414575	single nucleotide variant	NM_030928.4(CDT1):c.469G>A (p.Gly157Ser)	Inborn genetic diseases [RCV002551622]\|not provided [RCV001874692]	uncertain significance	16	88804879	88804879	Human	1	name
151878095	CV1415992	single nucleotide variant	NM_030928.4(CDT1):c.998C>T (p.Pro333Leu)	Inborn genetic diseases [RCV002558446]\|not provided [RCV001926082]	uncertain significance	16	88806550	88806550	Human	1	name
151864608	CV1416545	single nucleotide variant	NM_030928.4(CDT1):c.878A>G (p.Gln293Arg)	Inborn genetic diseases [RCV003170138]\|not provided [RCV001997574]	uncertain significance	16	88806066	88806066	Human	1	name
151718861	CV1419829	single nucleotide variant	NM_030928.4(CDT1):c.392G>A (p.Arg131Gln)	not provided [RCV001965652]	uncertain significance	16	88804802	88804802	Human		name
151846278	CV1431474	single nucleotide variant	NM_030928.4(CDT1):c.472C>T (p.Arg158Cys)	not provided [RCV001957371]	uncertain significance	16	88804882	88804882	Human		name
151829557	CV1465816	single nucleotide variant	NM_030928.4(CDT1):c.883C>T (p.Arg295Trp)	Inborn genetic diseases [RCV003365462]\|not provided [RCV002050588]	uncertain significance	16	88806071	88806071	Human	1	name
151716039	CV1472726	single nucleotide variant	NM_030928.4(CDT1):c.704A>G (p.Asn235Ser)	Inborn genetic diseases [RCV002545395]\|not provided [RCV002039350]	uncertain significance	16	88805741	88805741	Human	1	name
151725328	CV1474652	single nucleotide variant	NM_030928.4(CDT1):c.922G>A (p.Glu308Lys)	Inborn genetic diseases [RCV002557691]\|not provided [RCV001945447]	uncertain significance	16	88806110	88806110	Human	1	name
151880584	CV1475459	single nucleotide variant	NM_030928.4(CDT1):c.748C>T (p.Arg250Cys)	Meier-Gorlin syndrome 4 [RCV003146420]\|not provided [RCV001961610]	uncertain significance	16	88805785	88805785	Human	1	name
151889404	CV1479657	single nucleotide variant	NM_030928.4(CDT1):c.976G>T (p.Asp326Tyr)	not provided [RCV001888169]	uncertain significance	16	88806528	88806528	Human		name
151866510	CV1480806	single nucleotide variant	NM_030928.4(CDT1):c.814G>A (p.Glu272Lys)	Inborn genetic diseases [RCV002562052]\|not provided [RCV001959896]	uncertain significance	16	88805851	88805851	Human	1	name
151892426	CV1481068	single nucleotide variant	NM_030928.4(CDT1):c.926A>G (p.His309Arg)	Inborn genetic diseases [RCV004042065]\|not provided [RCV001944100]	uncertain significance	16	88806114	88806114	Human	1	name
151818563	CV1482122	single nucleotide variant	NM_030928.4(CDT1):c.593G>A (p.Arg198His)	Inborn genetic diseases [RCV004970799]\|not provided [RCV002029664]	uncertain significance	16	88805544	88805544	Human	1	name
151838341	CV1487376	single nucleotide variant	NM_030928.4(CDT1):c.364G>A (p.Glu122Lys)	not provided [RCV001935802]	uncertain significance	16	88804774	88804774	Human		name
151879566	CV1490882	single nucleotide variant	NM_030928.4(CDT1):c.749G>A (p.Arg250His)	Inborn genetic diseases [RCV004042013]\|not provided [RCV001940822]	uncertain significance	16	88805786	88805786	Human	1	name
151745258	CV1507612	single nucleotide variant	NM_030928.4(CDT1):c.638C>T (p.Thr213Met)	not provided [RCV001985659]	uncertain significance	16	88805589	88805589	Human		name
152059078	CV1532681	single nucleotide variant	NM_030928.4(CDT1):c.592C>T (p.Arg198Cys)	not provided [RCV002208435]	benign	16	88805543	88805543	Human		name
152131635	CV1568052	single nucleotide variant	NM_030928.4(CDT1):c.581C>T (p.Ala194Val)	not provided [RCV002218150]	likely benign	16	88805532	88805532	Human		name
156257790	CV1906341	single nucleotide variant	NM_030928.4(CDT1):c.634G>A (p.Glu212Lys)	not provided [RCV003086333]	uncertain significance	16	88805585	88805585	Human		name
156405506	CV1913131	single nucleotide variant	NM_030928.4(CDT1):c.756G>C (p.Glu252Asp)	not provided [RCV002606346]	uncertain significance	16	88805793	88805793	Human		name
156086229	CV1919524	single nucleotide variant	NM_030928.4(CDT1):c.689G>A (p.Arg230His)	not provided [RCV002591746]	uncertain significance	16	88805726	88805726	Human		name
156134315	CV1962847	single nucleotide variant	NM_030928.4(CDT1):c.704A>T (p.Asn235Ile)	not provided [RCV002572342]	uncertain significance	16	88805741	88805741	Human		name
156195368	CV1970996	single nucleotide variant	NM_030928.4(CDT1):c.650C>T (p.Ala217Val)	Inborn genetic diseases [RCV004612198]\|not provided [RCV002625549]	uncertain significance	16	88805601	88805601	Human	1	name
156390242	CV1991117	single nucleotide variant	NM_030928.4(CDT1):c.709G>A (p.Gly237Ser)	not provided [RCV002634917]	uncertain significance	16	88805746	88805746	Human		name
156360833	CV2016636	single nucleotide variant	NM_030928.4(CDT1):c.430G>T (p.Ala144Ser)	not provided [RCV002720848]	uncertain significance	16	88804840	88804840	Human		name
156164155	CV2045045	single nucleotide variant	NM_030928.4(CDT1):c.430G>A (p.Ala144Thr)	not provided [RCV002741653]	uncertain significance	16	88804840	88804840	Human		name
156290761	CV2055198	single nucleotide variant	NM_030928.4(CDT1):c.304A>C (p.Thr102Pro)	not provided [RCV002833194]	uncertain significance	16	88804620	88804620	Human		name
10406852	CV208306	single nucleotide variant	NM_030928.4(CDT1):c.965T>C (p.Val322Ala)	not specified [RCV000194441]	uncertain significance	16	88806517	88806517	Human		name
156117958	CV2086654	deletion	NM_030928.4(CDT1):c.1338del (p.Gln446fs)	not provided [RCV002871150]	pathogenic	16	88807343	88807343	Human		name
156236452	CV2105113	single nucleotide variant	NM_030928.4(CDT1):c.884G>C (p.Arg295Pro)	not provided [RCV002919136]	uncertain significance	16	88806072	88806072	Human		name
155938431	CV2110504	single nucleotide variant	NM_030928.4(CDT1):c.683G>T (p.Arg228Leu)	not provided [RCV002904300]	uncertain significance	16	88805634	88805634	Human		name
156331752	CV2112731	single nucleotide variant	NM_030928.4(CDT1):c.553G>C (p.Val185Leu)	Inborn genetic diseases [RCV004067097]\|not provided [RCV002938408]	benign\|uncertain significance	16	88805504	88805504	Human	1	name
156078303	CV2141904	single nucleotide variant	NM_030928.4(CDT1):c.880C>T (p.Arg294Ter)	not provided [RCV002979170]	pathogenic	16	88806068	88806068	Human		name
156191830	CV2162133	single nucleotide variant	NM_030928.4(CDT1):c.805C>T (p.Leu269Phe)	Inborn genetic diseases [RCV003348979]\|not provided [RCV003041674]	uncertain significance	16	88805842	88805842	Human	1	name
156370540	CV2171111	single nucleotide variant	NM_030928.4(CDT1):c.565A>G (p.Lys189Glu)	not provided [RCV003032190]	uncertain significance	16	88805516	88805516	Human		name
156334774	CV2214814	single nucleotide variant	NM_030928.4(CDT1):c.844G>A (p.Ala282Thr)	Inborn genetic diseases [RCV002673750]	uncertain significance	16	88806032	88806032	Human	1	name
155917306	CV2236522	single nucleotide variant	NM_030928.4(CDT1):c.719A>G (p.Lys240Arg)	Inborn genetic diseases [RCV002772484]	uncertain significance	16	88805756	88805756	Human	1	name
156305154	CV2252584	single nucleotide variant	NM_030928.4(CDT1):c.667G>A (p.Val223Ile)	Inborn genetic diseases [RCV002808462]	uncertain significance	16	88805618	88805618	Human	1	name
155966421	CV2261911	single nucleotide variant	NM_030928.4(CDT1):c.466G>A (p.Glu156Lys)	Inborn genetic diseases [RCV002817311]	likely benign	16	88804876	88804876	Human	1	name
156264712	CV2312124	single nucleotide variant	NM_030928.4(CDT1):c.439G>T (p.Ala147Ser)	Inborn genetic diseases [RCV002920725]	uncertain significance	16	88804849	88804849	Human	1	name
156270176	CV2312125	single nucleotide variant	NM_030928.4(CDT1):c.440C>T (p.Ala147Val)	Inborn genetic diseases [RCV002934287]	uncertain significance	16	88804850	88804850	Human	1	name
156350922	CV2316306	single nucleotide variant	NM_030928.4(CDT1):c.916G>A (p.Val306Ile)	Inborn genetic diseases [RCV002939862]	uncertain significance	16	88806104	88806104	Human	1	name
155925187	CV2358284	single nucleotide variant	NM_030928.4(CDT1):c.751C>A (p.Gln251Lys)	Inborn genetic diseases [RCV002992513]	uncertain significance	16	88805788	88805788	Human	1	name
156246156	CV2396774	single nucleotide variant	NM_030928.4(CDT1):c.766C>T (p.Pro256Ser)	Inborn genetic diseases [RCV002768568]	uncertain significance	16	88805803	88805803	Human	1	name
243063852	CV2405374	single nucleotide variant	NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)	Meier-Gorlin syndrome 4 [RCV003225900]	likely pathogenic	16	88805603	88805603	Human	1	name
329397138	CV2459951	single nucleotide variant	NM_030928.4(CDT1):c.371C>A (p.Ala124Glu)	Inborn genetic diseases [RCV003195363]	uncertain significance	16	88804781	88804781	Human	1	name
401748152	CV2700016	single nucleotide variant	NM_030928.4(CDT1):c.904C>G (p.Leu302Val)	Inborn genetic diseases [RCV003276145]	uncertain significance	16	88806092	88806092	Human	1	name
401903569	CV2817951	single nucleotide variant	NM_030928.4(CDT1):c.499G>A (p.Ala167Thr)	not provided [RCV003419499]	uncertain significance	16	88805450	88805450	Human		name
405231553	CV2895672	single nucleotide variant	NM_030928.4(CDT1):c.847G>A (p.Ala283Thr)	not provided [RCV003555547]	uncertain significance	16	88806035	88806035	Human		name
405139600	CV2954603	single nucleotide variant	NM_030928.4(CDT1):c.345G>T (p.Gln115His)	not provided [RCV003673037]	uncertain significance	16	88804661	88804661	Human		name
404978083	CV3127159	single nucleotide variant	NM_030928.4(CDT1):c.850C>G (p.Pro284Ala)	not provided [RCV003825382]	uncertain significance	16	88806038	88806038	Human		name
405033999	CV3130434	single nucleotide variant	NM_030928.4(CDT1):c.631T>C (p.Ser211Pro)	Inborn genetic diseases [RCV004968495]\|not provided [RCV003830841]	uncertain significance	16	88805582	88805582	Human	1	name
404979014	CV3176035	single nucleotide variant	NM_030928.4(CDT1):c.898C>T (p.Gln300Ter)	not provided [RCV003880135]	pathogenic	16	88806086	88806086	Human		name
405701156	CV3224959	single nucleotide variant	NM_030928.4(CDT1):c.610G>A (p.Val204Met)	Inborn genetic diseases [RCV005311110]\|Meier-Gorlin syndrome 4 [RCV003989243]	uncertain significance	16	88805561	88805561	Human	2	name
405743571	CV3303631	single nucleotide variant	NM_030928.4(CDT1):c.443G>A (p.Gly148Glu)	Inborn genetic diseases [RCV004431081]	uncertain significance	16	88804853	88804853	Human	1	name
405743578	CV3303632	single nucleotide variant	NM_030928.4(CDT1):c.484C>G (p.Pro162Ala)	Inborn genetic diseases [RCV004431082]	uncertain significance	16	88804894	88804894	Human	1	name
405743585	CV3303633	single nucleotide variant	NM_030928.4(CDT1):c.566A>T (p.Lys189Met)	Inborn genetic diseases [RCV004431083]	uncertain significance	16	88805517	88805517	Human	1	name
405743591	CV3303634	single nucleotide variant	NM_030928.4(CDT1):c.583G>A (p.Glu195Lys)	Inborn genetic diseases [RCV004431084]	uncertain significance	16	88805534	88805534	Human	1	name
405743603	CV3303636	single nucleotide variant	NM_030928.4(CDT1):c.616A>G (p.Met206Val)	Inborn genetic diseases [RCV004431086]	uncertain significance	16	88805567	88805567	Human	1	name
405743610	CV3303637	single nucleotide variant	NM_030928.4(CDT1):c.724G>A (p.Val242Met)	Inborn genetic diseases [RCV004431087]	uncertain significance	16	88805761	88805761	Human	1	name
405743616	CV3303638	single nucleotide variant	NM_030928.4(CDT1):c.737C>T (p.Ser246Phe)	Inborn genetic diseases [RCV004431088]	uncertain significance	16	88805774	88805774	Human	1	name
405743624	CV3303639	single nucleotide variant	NM_030928.4(CDT1):c.961A>G (p.Met321Val)	Inborn genetic diseases [RCV004431089]	uncertain significance	16	88806513	88806513	Human	1	name
407460716	CV3418702	single nucleotide variant	NM_030928.4(CDT1):c.545C>T (p.Pro182Leu)	Inborn genetic diseases [RCV004612403]	uncertain significance	16	88805496	88805496	Human	1	name
407460722	CV3418704	single nucleotide variant	NM_030928.4(CDT1):c.875T>G (p.Leu292Arg)	Inborn genetic diseases [RCV004612405]	uncertain significance	16	88806063	88806063	Human	1	name
407460728	CV3418706	single nucleotide variant	NM_030928.4(CDT1):c.505G>A (p.Ala169Thr)	Inborn genetic diseases [RCV004612407]	uncertain significance	16	88805456	88805456	Human	1	name
597655088	CV3648789	single nucleotide variant	NM_030928.4(CDT1):c.649G>C (p.Ala217Pro)	Inborn genetic diseases [RCV004976319]	uncertain significance	16	88805600	88805600	Human	1	name
597655508	CV3648790	single nucleotide variant	NM_030928.4(CDT1):c.701G>A (p.Cys234Tyr)	Inborn genetic diseases [RCV004976320]	uncertain significance	16	88805738	88805738	Human	1	name
597655122	CV3648795	single nucleotide variant	NM_030928.4(CDT1):c.752A>G (p.Gln251Arg)	Inborn genetic diseases [RCV004976325]	uncertain significance	16	88805789	88805789	Human	1	name
597655146	CV3648799	single nucleotide variant	NM_030928.4(CDT1):c.958G>T (p.Ala320Ser)	Inborn genetic diseases [RCV004976329]	uncertain significance	16	88806510	88806510	Human	1	name
597954880	CV3754137	single nucleotide variant	NM_030928.4(CDT1):c.853C>T (p.Gln285Ter)	not provided [RCV005080180]	pathogenic	16	88806041	88806041	Human		name
597942163	CV3785956	duplication	NM_030928.4(CDT1):c.1405dup (p.Arg469fs)	not provided [RCV005133849]	pathogenic	16	88807409	88807410	Human		name
598240776	CV3940426	single nucleotide variant	NM_030928.4(CDT1):c.943G>A (p.Ala315Thr)	Inborn genetic diseases [RCV005321439]	uncertain significance	16	88806495	88806495	Human	1	name
598240780	CV3940429	single nucleotide variant	NM_030928.4(CDT1):c.706G>A (p.Val236Ile)	Inborn genetic diseases [RCV005321440]	uncertain significance	16	88805743	88805743	Human	1	name
598240785	CV3940430	single nucleotide variant	NM_030928.4(CDT1):c.971C>T (p.Pro324Leu)	Inborn genetic diseases [RCV005321441]	uncertain significance	16	88806523	88806523	Human	1	name
598193651	CV3940434	single nucleotide variant	NM_030928.4(CDT1):c.691T>G (p.Phe231Val)	Inborn genetic diseases [RCV005313024]	uncertain significance	16	88805728	88805728	Human	1	name
598193655	CV3940435	single nucleotide variant	NM_030928.4(CDT1):c.328C>T (p.His110Tyr)	Inborn genetic diseases [RCV005313025]	uncertain significance	16	88804644	88804644	Human	1	name
598193671	CV3940440	single nucleotide variant	NM_030928.4(CDT1):c.344A>T (p.Gln115Leu)	Inborn genetic diseases [RCV005313029]	uncertain significance	16	88804660	88804660	Human	1	name
8568384	CV39457	single nucleotide variant	NM_030928.4(CDT1):c.351G>C (p.Gln117His)	Meier-Gorlin syndrome 4 [RCV000023457]	pathogenic	16	88804667	88804667	Human	1	name
13214919	CV429860	single nucleotide variant	NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)	CDT1-related disorder [RCV003962371]\|Meier-Gorlin syndrome 4 [RCV000765317]\|not provided [RCV000974644]\|not specified [RCV000501711]	likely benign\|uncertain significance	16	88805564	88805564	Human	1	name , trait , alternate_id
13213517	CV429862	single nucleotide variant	NM_030928.4(CDT1):c.758G>A (p.Arg253His)	CDT1-related disorder [RCV003960156]\|not provided [RCV000887228]\|not specified [RCV000500107]	likely benign\|uncertain significance	16	88805795	88805795	Human	1	name , trait , alternate_id
13215448	CV429863	single nucleotide variant	NM_030928.4(CDT1):c.782G>A (p.Gly261Asp)	Inborn genetic diseases [RCV004023364]\|not specified [RCV000502524]	uncertain significance	16	88805819	88805819	Human	1	name
13523819	CV489177	single nucleotide variant	NM_030928.4(CDT1):c.868C>T (p.Arg290Cys)	not provided [RCV000593478]	uncertain significance	16	88806056	88806056	Human		name
15168276	CV755524	single nucleotide variant	NM_030928.4(CDT1):c.866C>T (p.Ser289Leu)	not provided [RCV000927258]	likely benign	16	88806054	88806054	Human		name
26893565	CV844474	single nucleotide variant	NM_030928.4(CDT1):c.515G>A (p.Arg172His)	not provided [RCV001062771]	uncertain significance	16	88805466	88805466	Human		name
126726754	CV997232	single nucleotide variant	NM_030928.4(CDT1):c.683G>A (p.Arg228His)	Inborn genetic diseases [RCV003166708]\|not provided [RCV001302990]	uncertain significance	16	88805634	88805634	Human	1	name
126747542	CV1012476	single nucleotide variant	NM_030928.4(CDT1):c.1223C>T (p.Pro408Leu)	not provided [RCV001315364]	uncertain significance	16	88807151	88807151	Human		name
126725482	CV1018176	single nucleotide variant	NM_030928.4(CDT1):c.1125G>A (p.Met375Ile)	Meier-Gorlin syndrome 4 [RCV001331422]	uncertain significance	16	88807053	88807053	Human	1	name
126731334	CV1032975	single nucleotide variant	NM_030928.4(CDT1):c.1240G>T (p.Ala414Ser)	Inborn genetic diseases [RCV004036585]\|not provided [RCV001349409]	uncertain significance	16	88807168	88807168	Human	1	name
126771815	CV1032976	single nucleotide variant	NM_030928.4(CDT1):c.1378G>A (p.Val460Met)	not provided [RCV001345267]	uncertain significance	16	88807383	88807383	Human		name
126763712	CV1032977	single nucleotide variant	NM_030928.4(CDT1):c.1384C>T (p.Arg462Trp)	not provided [RCV001341386]	uncertain significance	16	88807389	88807389	Human		name
127320216	CV1157893	single nucleotide variant	NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp)	not provided [RCV001522520]\|not specified [RCV001821840]	benign\|uncertain significance	16	88808269	88808269	Human		name
150412233	CV1196176	single nucleotide variant	NM_030928.4(CDT1):c.1301A>C (p.Gln434Pro)	not provided [RCV001574014]	uncertain significance	16	88807306	88807306	Human		name
150551570	CV1292796	single nucleotide variant	NM_030928.4(CDT1):c.1097G>A (p.Arg366Gln)	Inborn genetic diseases [RCV002543934]\|not provided [RCV001754404]	uncertain significance	16	88806649	88806649	Human	1	name
150536836	CV1314317	single nucleotide variant	NM_030928.4(CDT1):c.1279C>T (p.Arg427Ter)	not provided [RCV003734671]	pathogenic\|likely pathogenic	16	88807284	88807284	Human		name
151355127	CV1328194	single nucleotide variant	NM_030928.4(CDT1):c.1322G>A (p.Cys441Tyr)	not specified [RCV001819670]	uncertain significance	16	88807327	88807327	Human		name
151356020	CV1328784	single nucleotide variant	NM_030928.4(CDT1):c.1540C>T (p.Arg514Cys)	Inborn genetic diseases [RCV004980726]\|not specified [RCV001822373]	uncertain significance	16	88808177	88808177	Human	1	name
151893294	CV1338048	single nucleotide variant	NM_030928.4(CDT1):c.1387A>G (p.Ser463Gly)	not provided [RCV001944890]	uncertain significance	16	88807392	88807392	Human		name
8657513	CV134108	single nucleotide variant	NM_030928.4(CDT1):c.1030G>A (p.Glu344Lys)	not provided [RCV000116631]	uncertain significance	16	88806582	88806582	Human		name
8657515	CV134111	single nucleotide variant	NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)	not provided [RCV000116634]	conflicting interpretations of pathogenicity\|uncertain significance	16	88808268	88808268	Human		name
8659197	CV134117	single nucleotide variant	NM_030928.4(CDT1):c.1367A>C (p.Glu456Ala)	not provided [RCV000887229]\|not specified [RCV000116640]	benign\|likely benign	16	88807372	88807372	Human		name
8659203	CV134123	single nucleotide variant	NM_030928.4(CDT1):c.1610C>T (p.Ala537Val)	not provided [RCV001523134]\|not specified [RCV000116646]	benign	16	88808247	88808247	Human		name
151736560	CV1351470	single nucleotide variant	NM_030928.4(CDT1):c.1325C>T (p.Pro442Leu)	Inborn genetic diseases [RCV002564367]\|not provided [RCV002021877]	uncertain significance	16	88807330	88807330	Human	1	name
151848055	CV1352895	single nucleotide variant	NM_030928.4(CDT1):c.1366G>C (p.Glu456Gln)	not provided [RCV001922392]	uncertain significance	16	88807371	88807371	Human		name
151848704	CV1358401	single nucleotide variant	NM_030928.4(CDT1):c.1609G>A (p.Ala537Thr)	not provided [RCV001937064]	uncertain significance	16	88808246	88808246	Human		name
151775850	CV1358566	single nucleotide variant	NM_030928.4(CDT1):c.1547G>A (p.Arg516His)	not provided [RCV001950602]	uncertain significance	16	88808184	88808184	Human		name
151782995	CV1364547	single nucleotide variant	NM_030928.4(CDT1):c.1010T>C (p.Val337Ala)	not provided [RCV002009915]	uncertain significance	16	88806562	88806562	Human		name
151732173	CV1390096	single nucleotide variant	NM_030928.4(CDT1):c.1543A>G (p.Ile515Val)	not provided [RCV001910990]	uncertain significance	16	88808180	88808180	Human		name
151890351	CV1394825	single nucleotide variant	NM_030928.4(CDT1):c.1319G>A (p.Arg440Gln)	not provided [RCV001888390]	uncertain significance	16	88807324	88807324	Human		name
151825797	CV1396079	single nucleotide variant	NM_030928.4(CDT1):c.1559A>G (p.Tyr520Cys)	not provided [RCV001934576]	uncertain significance	16	88808196	88808196	Human		name
151760572	CV1404072	single nucleotide variant	NM_030928.4(CDT1):c.1199C>T (p.Pro400Leu)	Inborn genetic diseases [RCV002571360]\|not provided [RCV002007811]	uncertain significance	16	88807127	88807127	Human	1	name
151892715	CV1419058	single nucleotide variant	NM_030928.4(CDT1):c.1291G>A (p.Ala431Thr)	Inborn genetic diseases [RCV004612015]\|not provided [RCV001944407]	uncertain significance	16	88807296	88807296	Human	1	name
151718577	CV1419741	single nucleotide variant	NM_030928.4(CDT1):c.1207C>T (p.Pro403Ser)	not provided [RCV001965613]	uncertain significance	16	88807135	88807135	Human		name
151795851	CV1437708	single nucleotide variant	NM_030928.4(CDT1):c.1448T>C (p.Val483Ala)	not provided [RCV001876930]	uncertain significance	16	88807453	88807453	Human		name
151776235	CV1440295	single nucleotide variant	NM_030928.4(CDT1):c.1339C>T (p.Arg447Trp)	not provided [RCV001874928]	uncertain significance	16	88807344	88807344	Human		name
151740161	CV1451674	single nucleotide variant	NM_030928.4(CDT1):c.1549A>G (p.Thr517Ala)	not provided [RCV002022248]	uncertain significance	16	88808186	88808186	Human		name
151732422	CV1454586	single nucleotide variant	NM_030928.4(CDT1):c.1318C>T (p.Arg440Trp)	Inborn genetic diseases [RCV003247182]\|not provided [RCV001967257]	uncertain significance	16	88807323	88807323	Human	1	name
151831372	CV1459294	single nucleotide variant	NM_030928.4(CDT1):c.1177G>T (p.Gly393Trp)	not provided [RCV002050753]	uncertain significance	16	88807105	88807105	Human		name
151807945	CV1462809	single nucleotide variant	NM_030928.4(CDT1):c.1234C>A (p.Pro412Thr)	not provided [RCV001991548]	uncertain significance	16	88807162	88807162	Human		name
151888158	CV1468318	single nucleotide variant	NM_030928.4(CDT1):c.1588G>A (p.Ala530Thr)	not provided [RCV002001030]	uncertain significance	16	88808225	88808225	Human		name
151791710	CV1470909	single nucleotide variant	NM_030928.4(CDT1):c.1510G>C (p.Glu504Gln)	not provided [RCV001931480]	uncertain significance	16	88808147	88808147	Human		name
151770041	CV1481720	single nucleotide variant	NM_030928.4(CDT1):c.1541G>A (p.Arg514His)	Inborn genetic diseases [RCV004976086]\|not provided [RCV002008757]	likely benign\|uncertain significance	16	88808178	88808178	Human	1	name
151787699	CV1488747	single nucleotide variant	NM_030928.4(CDT1):c.1105A>G (p.Asn369Asp)	not provided [RCV002010370]	uncertain significance	16	88806657	88806657	Human		name
151885097	CV1494376	single nucleotide variant	NM_030928.4(CDT1):c.1604G>A (p.Arg535His)	not provided [RCV001962473]	uncertain significance	16	88808241	88808241	Human		name
151825224	CV1507087	single nucleotide variant	NM_030928.4(CDT1):c.1524C>A (p.Asp508Glu)	not provided [RCV001955151]	uncertain significance	16	88808161	88808161	Human		name
151728585	CV1515741	single nucleotide variant	NM_030928.4(CDT1):c.1229C>T (p.Ala410Val)	not provided [RCV001983962]	uncertain significance	16	88807157	88807157	Human		name
156343281	CV1871469	single nucleotide variant	NM_030928.4(CDT1):c.1560C>A (p.Tyr520Ter)	not provided [RCV003064366]	pathogenic	16	88808197	88808197	Human		name
156295527	CV1904629	single nucleotide variant	NM_030928.4(CDT1):c.1096C>T (p.Arg366Trp)	not provided [RCV002598931]	uncertain significance	16	88806648	88806648	Human		name
156370373	CV1905190	single nucleotide variant	NM_030928.4(CDT1):c.1034C>T (p.Pro345Leu)	not provided [RCV002582369]	uncertain significance	16	88806586	88806586	Human		name
156362881	CV1931858	single nucleotide variant	NM_030928.4(CDT1):c.1491G>C (p.Lys497Asn)	not provided [RCV002632799]	uncertain significance	16	88808128	88808128	Human		name
156434160	CV1946885	single nucleotide variant	NM_030928.4(CDT1):c.1177G>A (p.Gly393Arg)	not provided [RCV003104343]	uncertain significance	16	88807105	88807105	Human		name
156001380	CV1987194	single nucleotide variant	NM_030928.4(CDT1):c.1201G>A (p.Ala401Thr)	not provided [RCV002618464]	uncertain significance	16	88807129	88807129	Human		name
156046572	CV2030899	single nucleotide variant	NM_030928.4(CDT1):c.1273C>T (p.Arg425Trp)	Inborn genetic diseases [RCV002736369]\|not provided [RCV002761107]	uncertain significance	16	88807201	88807201	Human	1	name
156047515	CV2030948	single nucleotide variant	NM_030928.4(CDT1):c.1283C>T (p.Ala428Val)	not provided [RCV002736400]	uncertain significance	16	88807288	88807288	Human		name
156105137	CV2038471	single nucleotide variant	NM_030928.4(CDT1):c.1561G>C (p.Val521Leu)	not provided [RCV002761465]	uncertain significance	16	88808198	88808198	Human		name
10404022	CV208307	single nucleotide variant	NM_030928.4(CDT1):c.1196T>C (p.Leu399Pro)	not specified [RCV000193971]	uncertain significance	16	88807124	88807124	Human		name
10404412	CV208308	single nucleotide variant	NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)	CDT1-related disorder [RCV003917740]\|Inborn genetic diseases [RCV002517061]\|Meier-Gorlin syndrome 4 [RCV001262500]\|not provided [RCV000954754]\|not specified [RCV000194987]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	88807416	88807416	Human	2	name , trait , alternate_id
155924256	CV2099471	single nucleotide variant	NM_030928.4(CDT1):c.1622G>T (p.Arg541Leu)	not provided [RCV002903492]	likely benign	16	88808259	88808259	Human		name
155995452	CV2109276	single nucleotide variant	NM_030928.4(CDT1):c.1561G>A (p.Val521Ile)	not provided [RCV002947536]	uncertain significance	16	88808198	88808198	Human		name
156212567	CV2127817	single nucleotide variant	NM_030928.4(CDT1):c.1178G>A (p.Gly393Glu)	not provided [RCV002957807]	uncertain significance	16	88807106	88807106	Human		name
156214071	CV2127892	single nucleotide variant	NM_030928.4(CDT1):c.1349G>A (p.Arg450His)	Inborn genetic diseases [RCV002957868]\|not provided [RCV002957869]	uncertain significance	16	88807354	88807354	Human	1	name
156145530	CV2265058	single nucleotide variant	NM_030928.4(CDT1):c.1354G>C (p.Glu452Gln)	Inborn genetic diseases [RCV002826469]	uncertain significance	16	88807359	88807359	Human	1	name
156072127	CV2328721	single nucleotide variant	NM_030928.4(CDT1):c.1405C>T (p.Arg469Cys)	Inborn genetic diseases [RCV002912406]	uncertain significance	16	88807410	88807410	Human	1	name
11351008	CV237075	single nucleotide variant	NM_030928.4(CDT1):c.1436G>T (p.Cys479Phe)	not provided [RCV000224778]	uncertain significance	16	88807441	88807441	Human		name
329352208	CV2452228	single nucleotide variant	NM_030928.4(CDT1):c.1340G>A (p.Arg447Gln)	Inborn genetic diseases [RCV003200371]	uncertain significance	16	88807345	88807345	Human	1	name
329402205	CV2454049	single nucleotide variant	NM_030928.4(CDT1):c.1133C>G (p.Ala378Gly)	Inborn genetic diseases [RCV003199114]	uncertain significance	16	88807061	88807061	Human	1	name
329386243	CV2454897	single nucleotide variant	NM_030928.4(CDT1):c.1465A>G (p.Ile489Val)	Inborn genetic diseases [RCV003214695]	likely benign	16	88807470	88807470	Human	1	name
329387676	CV2470889	single nucleotide variant	NM_030928.4(CDT1):c.1375C>T (p.Arg459Cys)	Inborn genetic diseases [RCV003215380]	uncertain significance	16	88807380	88807380	Human	1	name
401735050	CV2699147	single nucleotide variant	NM_030928.4(CDT1):c.1376G>C (p.Arg459Pro)	Inborn genetic diseases [RCV003290940]	uncertain significance	16	88807381	88807381	Human	1	name
401727130	CV2718413	single nucleotide variant	NM_030928.4(CDT1):c.1510G>A (p.Glu504Lys)	Inborn genetic diseases [RCV003246626]	uncertain significance	16	88808147	88808147	Human	1	name
401855256	CV2757217	single nucleotide variant	NM_030928.4(CDT1):c.1024G>A (p.Asp342Asn)	Inborn genetic diseases [RCV003339309]\|not provided [RCV005061310]	uncertain significance	16	88806576	88806576	Human	1	name
401890180	CV2763673	single nucleotide variant	NM_030928.4(CDT1):c.1153C>T (p.Arg385Cys)	Inborn genetic diseases [RCV003354268]	uncertain significance	16	88807081	88807081	Human	1	name
402476536	CV2857310	single nucleotide variant	NM_030928.4(CDT1):c.1163C>A (p.Ala388Glu)	not provided [RCV003543467]	uncertain significance	16	88807091	88807091	Human		name
402487111	CV3181878	single nucleotide variant	NM_030928.4(CDT1):c.1601C>T (p.Ala534Val)	Inborn genetic diseases [RCV004369616]\|not provided [RCV003876547]	uncertain significance	16	88808238	88808238	Human	1	name
405709340	CV3225561	single nucleotide variant	NM_030928.4(CDT1):c.1381C>A (p.Leu461Met)	Meier-Gorlin syndrome 4 [RCV003990618]	uncertain significance	16	88807386	88807386	Human	1	name
405743556	CV3303628	single nucleotide variant	NM_030928.4(CDT1):c.1467C>G (p.Ile489Met)	Inborn genetic diseases [RCV004431078]	uncertain significance	16	88807472	88807472	Human	1	name
405743566	CV3303630	single nucleotide variant	NM_030928.4(CDT1):c.1621C>T (p.Arg541Cys)	Inborn genetic diseases [RCV004431080]	uncertain significance	16	88808258	88808258	Human	1	name
407460725	CV3418705	single nucleotide variant	NM_030928.4(CDT1):c.1255T>A (p.Ser419Thr)	Inborn genetic diseases [RCV004612406]	uncertain significance	16	88807183	88807183	Human	1	name
407460731	CV3418707	single nucleotide variant	NM_030928.4(CDT1):c.1390G>A (p.Val464Ile)	Inborn genetic diseases [RCV004612408]	uncertain significance	16	88807395	88807395	Human	1	name
597655068	CV3648785	single nucleotide variant	NM_030928.4(CDT1):c.1603C>T (p.Arg535Cys)	Inborn genetic diseases [RCV004976315]	uncertain significance	16	88808240	88808240	Human	1	name
597655078	CV3648787	single nucleotide variant	NM_030928.4(CDT1):c.1460G>T (p.Cys487Phe)	Inborn genetic diseases [RCV004976317]	uncertain significance	16	88807465	88807465	Human	1	name
597655086	CV3648788	single nucleotide variant	NM_030928.4(CDT1):c.1040C>T (p.Ala347Val)	Inborn genetic diseases [RCV004976318]	likely benign	16	88806592	88806592	Human	1	name
597655103	CV3648791	single nucleotide variant	NM_030928.4(CDT1):c.1424T>C (p.Met475Thr)	Inborn genetic diseases [RCV004976321]	uncertain significance	16	88807429	88807429	Human	1	name
597655106	CV3648792	single nucleotide variant	NM_030928.4(CDT1):c.1280G>A (p.Arg427Gln)	Inborn genetic diseases [RCV004976322]	uncertain significance	16	88807285	88807285	Human	1	name
597655111	CV3648793	single nucleotide variant	NM_030928.4(CDT1):c.1061C>T (p.Thr354Met)	Inborn genetic diseases [RCV004976323]	uncertain significance	16	88806613	88806613	Human	1	name
597655128	CV3648796	single nucleotide variant	NM_030928.4(CDT1):c.1222C>G (p.Pro408Ala)	Inborn genetic diseases [RCV004976326]	uncertain significance	16	88807150	88807150	Human	1	name
597655134	CV3648797	single nucleotide variant	NM_030928.4(CDT1):c.1541G>T (p.Arg514Leu)	Inborn genetic diseases [RCV004976327]	uncertain significance	16	88808178	88808178	Human	1	name
597655140	CV3648798	single nucleotide variant	NM_030928.4(CDT1):c.1614C>G (p.His538Gln)	Inborn genetic diseases [RCV004976328]	uncertain significance	16	88808251	88808251	Human	1	name
597963979	CV3837817	single nucleotide variant	NM_030928.4(CDT1):c.1333G>A (p.Glu445Lys)	not provided [RCV005193800]	uncertain significance	16	88807338	88807338	Human		name
598193640	CV3940428	single nucleotide variant	NM_030928.4(CDT1):c.1000C>T (p.Arg334Cys)	Inborn genetic diseases [RCV005313021]	uncertain significance	16	88806552	88806552	Human	1	name
598193646	CV3940433	single nucleotide variant	NM_030928.4(CDT1):c.1621C>A (p.Arg541Ser)	Inborn genetic diseases [RCV005313023]	uncertain significance	16	88808258	88808258	Human	1	name
598193657	CV3940436	single nucleotide variant	NM_030928.4(CDT1):c.1100C>G (p.Ala367Gly)	Inborn genetic diseases [RCV005313026]	uncertain significance	16	88806652	88806652	Human	1	name
598240793	CV3940439	single nucleotide variant	NM_030928.4(CDT1):c.1311G>T (p.Gln437His)	Inborn genetic diseases [RCV005321443]	uncertain significance	16	88807316	88807316	Human	1	name
598193675	CV3940441	single nucleotide variant	NM_030928.4(CDT1):c.1274G>A (p.Arg425Gln)	Inborn genetic diseases [RCV005313030]	uncertain significance	16	88807202	88807202	Human	1	name
8602242	CV39455	single nucleotide variant	NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)	Meier-Gorlin syndrome 4 [RCV000023455]\|Meier-Gorlin syndrome [RCV000825514]\|not provided [RCV000420938]	pathogenic\|likely pathogenic	16	88807390	88807390	Human	2	name
8568383	CV39456	single nucleotide variant	NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter)	Meier-Gorlin syndrome 4 [RCV000023456]	pathogenic	16	88808197	88808197	Human	1	name
8602244	CV39459	single nucleotide variant	NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)	Meier-Gorlin syndrome 4 [RCV000023459]\|not provided [RCV001596941]	pathogenic\|likely pathogenic	16	88807407	88807407	Human	1	name
13216873	CV429864	single nucleotide variant	NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)	Meier-Gorlin syndrome 4 [RCV000714654]\|not provided [RCV002056841]\|not specified [RCV000504305]	benign\|likely benign\|uncertain significance	16	88807362	88807362	Human	1	name
13213681	CV429865	single nucleotide variant	NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn)	CDT1-related disorder [RCV004758026]\|not provided [RCV000884097]\|not specified [RCV000500308]	benign	16	88807477	88807477	Human	1	name , trait , alternate_id
13215880	CV429866	single nucleotide variant	NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys)	not provided [RCV000923169]\|not specified [RCV000502918]	likely benign\|uncertain significance	16	88808183	88808183	Human		name
13215095	CV429867	single nucleotide variant	NM_030928.4(CDT1):c.1552G>A (p.Asp518Asn)	Inborn genetic diseases [RCV004975578]\|not provided [RCV001369377]\|not specified [RCV000502083]	uncertain significance	16	88808189	88808189	Human	1	name
13442705	CV434653	single nucleotide variant	NM_030928.4(CDT1):c.1154G>A (p.Arg385His)	Meier-Gorlin syndrome 4 [RCV000509243]	not provided	16	88807082	88807082	Human		name
15134313	CV740492	single nucleotide variant	NM_030928.4(CDT1):c.1507T>G (p.Ser503Ala)	CDT1-related disorder [RCV003950509]\|not provided [RCV000898267]	benign\|likely benign	16	88808144	88808144	Human	1	name , trait , alternate_id
21075498	CV797441	single nucleotide variant	NM_030928.4(CDT1):c.1220C>T (p.Pro407Leu)	not provided [RCV000996383]	uncertain significance	16	88807148	88807148	Human		name
21075497	CV797442	single nucleotide variant	NM_030928.4(CDT1):c.1348C>T (p.Arg450Cys)	Inborn genetic diseases [RCV002550693]\|not provided [RCV000996384]	uncertain significance	16	88807353	88807353	Human	1	name
126731108	CV997234	single nucleotide variant	NM_030928.4(CDT1):c.1108C>G (p.Leu370Val)	not provided [RCV001294324]	uncertain significance	16	88806660	88806660	Human		name
151784028	CV1344653	indel	NM_030928.4(CDT1):c.1123-21_1123-20delinsGT	not provided [RCV001989394]	uncertain significance	16	88807030	88807031	Human		name
151754133	CV1343088	microsatellite	NM_030928.4(CDT1):c.1207CCA[1] (p.Pro404del)	not provided [RCV002043585]	uncertain significance	16	88807135	88807137	Human		name
151758522	CV1375451	inversion	NM_030928.4(CDT1):c.915_916inv (p.Val306Ile)	not provided [RCV001969912]	uncertain significance	16	88806103	88806104	Human		name
151816207	CV1433010	inversion	NM_030928.4(CDT1):c.783_784inv (p.Thr262Ala)	not provided [RCV001954306]	uncertain significance	16	88805820	88805821	Human		name
597899906	CV3850865	duplication	NM_030928.4(CDT1):c.1161_1170dup (p.Ser391fs)	not provided [RCV005201849]	pathogenic	16	88807086	88807087	Human		name
127296175	CV1162251	deletion	NM_030928.4(CDT1):c.1078_1080del (p.Ala360del)	Meier-Gorlin syndrome 4 [RCV001527361]	pathogenic	16	88806628	88806630	Human	1	name
329951994	CV2668742	indel	NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)	Meier-Gorlin syndrome 4 [RCV003230823]	pathogenic	16	88803997	88803998	Human		name
156392130	CV2006303	indel	NM_030928.4(CDT1):c.700_701delinsCC (p.Cys234Pro)	not provided [RCV002654486]	uncertain significance	16	88805737	88805738	Human		name
126753991	CV997233	indel	NM_030928.4(CDT1):c.884_885delinsTT (p.Arg295Leu)	not provided [RCV001298023]	uncertain significance	16	88806072	88806073	Human		name
597663083	CV3732398	indel	NM_030928.4(CDT1):c.1337_1338delinsGCTTAGAA (p.Gln446delinsArgLeuGlu)	not provided [RCV005003867]	likely pathogenic	16	88807342	88807343	Human		name

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