Intu Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

380 records found for search term Intu

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150465525	CV1268624	single nucleotide variant	NM_015693.4(INTU):c.*46A>G	not provided [RCV001694320]	benign	4	127716482	127716482	Human		name
156436747	CV1940321	single nucleotide variant	NM_015693.4(INTU):c.768+8C>A	not provided [RCV003106271]	likely benign	4	127656729	127656729	Human		name
156412587	CV1968737	single nucleotide variant	NM_015693.4(INTU):c.147-4A>G	not provided [RCV002608585]	likely benign	4	127643517	127643517	Human		name
156103513	CV1992085	single nucleotide variant	NM_015693.4(INTU):c.147-4A>T	not provided [RCV002622302]	likely benign	4	127643517	127643517	Human		name
405232618	CV2985240	single nucleotide variant	NM_015693.4(INTU):c.769-4A>C	not provided [RCV003711707]	likely benign	4	127663377	127663377	Human		name
150515532	CV1227588	single nucleotide variant	NM_015693.4(INTU):c.769-32G>A	not provided [RCV001638862]	benign	4	127663349	127663349	Human		name
150509547	CV1284567	single nucleotide variant	NM_015693.4(INTU):c.146+69G>A	not provided [RCV001720675]	benign	4	127633249	127633249	Human		name
151753598	CV1342498	single nucleotide variant	NM_015693.4(INTU):c.1092-5C>G	not provided [RCV001986537]	likely benign\|uncertain significance	4	127674119	127674119	Human		name
152055070	CV1564490	single nucleotide variant	NM_015693.4(INTU):c.683-16G>C	Short-rib thoracic dysplasia 20 with polydactyly [RCV002500296]\|not provided [RCV002146127]	benign\|likely benign	4	127656620	127656620	Human	1	name
152053550	CV1658498	single nucleotide variant	NM_015693.4(INTU):c.683-10C>A	not provided [RCV002207811]	likely benign	4	127656626	127656626	Human		name
156021201	CV1903098	single nucleotide variant	NM_015693.4(INTU):c.2370-5T>C	not provided [RCV003100204]	likely benign	4	127710908	127710908	Human		name
156172021	CV1956328	single nucleotide variant	NM_015693.4(INTU):c.768+20A>G	not provided [RCV002573840]	likely benign	4	127656741	127656741	Human		name
156409494	CV1961820	single nucleotide variant	NM_015693.4(INTU):c.769-19A>T	not provided [RCV002586838]	likely benign	4	127663362	127663362	Human		name
156303494	CV2003550	single nucleotide variant	NM_015693.4(INTU):c.2369+4A>G	not provided [RCV002671269]	uncertain significance	4	127708672	127708672	Human		name
156398837	CV2013116	single nucleotide variant	NM_015693.4(INTU):c.1260-6C>G	not provided [RCV002725825]	uncertain significance	4	127687672	127687672	Human		name
155982861	CV2022134	single nucleotide variant	NM_015693.4(INTU):c.146+12A>G	not provided [RCV002755408]	likely benign	4	127633192	127633192	Human		name
155989894	CV2026892	single nucleotide variant	NM_015693.4(INTU):c.1092-4T>G	not provided [RCV002755704]	likely benign	4	127674120	127674120	Human		name
156226995	CV2048391	deletion	NM_015693.4(INTU):c.1504-8del	not provided [RCV002790852]	benign	4	127704216	127704216	Human		name
156300072	CV2075850	single nucleotide variant	NM_015693.4(INTU):c.1259+3A>G	not provided [RCV002857126]	uncertain significance	4	127684489	127684489	Human		name
156253895	CV2082718	single nucleotide variant	NM_015693.4(INTU):c.146+16A>C	not provided [RCV002877037]	likely benign	4	127633196	127633196	Human		name
156127647	CV2104255	single nucleotide variant	NM_015693.4(INTU):c.1260-1G>A	not provided [RCV002914424]	uncertain significance	4	127687677	127687677	Human		name
156277958	CV2164521	single nucleotide variant	NM_015693.4(INTU):c.1181+6T>C	not provided [RCV003027217]	uncertain significance	4	127674219	127674219	Human		name
402498308	CV2871834	single nucleotide variant	NM_015693.4(INTU):c.1182-8T>C	not provided [RCV003545641]	likely benign	4	127684401	127684401	Human		name
402508369	CV2938344	single nucleotide variant	NM_015693.4(INTU):c.1449+9A>C	not provided [RCV003662300]	likely benign	4	127687876	127687876	Human		name
405139751	CV2970422	single nucleotide variant	NM_015693.4(INTU):c.1450-6A>G	not provided [RCV003669094]	uncertain significance	4	127700004	127700004	Human		name
405207457	CV2994484	single nucleotide variant	NM_015693.4(INTU):c.1092-9G>C	not provided [RCV003678876]	likely benign	4	127674115	127674115	Human		name
405075366	CV3031602	single nucleotide variant	NM_015693.4(INTU):c.1260-8T>G	not provided [RCV003698565]	uncertain significance	4	127687670	127687670	Human		name
405146099	CV3052285	deletion	NM_015693.4(INTU):c.972+10del	not provided [RCV003725999]	likely benign	4	127663593	127663593	Human		name
405025070	CV3139454	single nucleotide variant	NM_015693.4(INTU):c.683-13A>T	not provided [RCV003830097]	likely benign	4	127656623	127656623	Human		name
405134596	CV3163922	single nucleotide variant	NM_015693.4(INTU):c.768+12C>G	not provided [RCV003854910]	likely benign	4	127656733	127656733	Human		name
402475450	CV3182826	deletion	NM_015693.4(INTU):c.1450-8del	not provided [RCV003875070]	benign	4	127699990	127699990	Human		name
408383575	CV3504074	single nucleotide variant	NM_015693.4(INTU):c.1260-1G>T	INTU-related disorder [RCV004730678]	uncertain significance	4	127687677	127687677	Human		name , trait , alternate_id
597922640	CV3777765	single nucleotide variant	NM_015693.4(INTU):c.972+20C>T	not provided [RCV005130489]	likely benign	4	127663604	127663604	Human		name
597938435	CV3808246	single nucleotide variant	NM_015693.4(INTU):c.682+20A>C	not provided [RCV005158434]	likely benign	4	127644076	127644076	Human		name
597865644	CV3834340	single nucleotide variant	NM_015693.4(INTU):c.2559+3A>G	not provided [RCV005175708]	uncertain significance	4	127711105	127711105	Human		name
15116796	CV779008	single nucleotide variant	NM_015693.4(INTU):c.1450-9T>G	Short-rib thoracic dysplasia 20 with polydactyly [RCV002489363]\|not provided [RCV000962095]	benign\|likely benign	4	127700001	127700001	Human	1	name
150516067	CV1216428	single nucleotide variant	NM_015693.4(INTU):c.2560-69C>T	not provided [RCV001608619]	benign	4	127713867	127713867	Human		name
150470108	CV1219186	single nucleotide variant	NM_015693.4(INTU):c.1091+95A>G	not provided [RCV001614938]	benign	4	127669249	127669249	Human		name
150515353	CV1227529	single nucleotide variant	NM_015693.4(INTU):c.1503+83G>A	not provided [RCV001638802]	benign	4	127700146	127700146	Human		name
150513286	CV1228957	single nucleotide variant	NM_015693.4(INTU):c.1260-36A>G	not provided [RCV001637799]	benign	4	127687642	127687642	Human		name
150433527	CV1230555	single nucleotide variant	NM_015693.4(INTU):c.1788+83C>T	not provided [RCV001643500]	benign	4	127705895	127705895	Human		name
150465909	CV1240320	single nucleotide variant	NM_015693.4(INTU):c.2370-45A>G	not provided [RCV001650081]	benign	4	127710868	127710868	Human		name
150510670	CV1242465	single nucleotide variant	NM_015693.4(INTU):c.1503+54A>C	not provided [RCV001660816]	benign	4	127700117	127700117	Human		name
150462435	CV1253373	single nucleotide variant	NM_015693.4(INTU):c.2369+62A>G	not provided [RCV001669702]	benign	4	127708730	127708730	Human		name
150465835	CV1255099	single nucleotide variant	NM_015693.4(INTU):c.683-201T>G	not provided [RCV001670272]	benign	4	127656435	127656435	Human		name
150498331	CV1255561	single nucleotide variant	NM_015693.4(INTU):c.2369+53G>A	not provided [RCV001676349]	benign	4	127708721	127708721	Human		name
152137504	CV1580425	single nucleotide variant	NM_015693.4(INTU):c.2559+15T>C	not provided [RCV002156325]	likely benign	4	127711117	127711117	Human		name
152160908	CV1606073	single nucleotide variant	NM_015693.4(INTU):c.1450-19T>C	not provided [RCV002180917]	likely benign	4	127699991	127699991	Human		name
152103867	CV1614407	single nucleotide variant	NM_015693.4(INTU):c.1504-20A>G	not provided [RCV002079334]	benign	4	127704208	127704208	Human		name
156374249	CV1932996	single nucleotide variant	NM_015693.4(INTU):c.1181+10G>A	not provided [RCV002633686]	likely benign	4	127674223	127674223	Human		name
155980228	CV1972379	duplication	NM_015693.4(INTU):c.2717+17dup	not provided [RCV002617566]	benign	4	127714102	127714103	Human		name
156328299	CV1982437	single nucleotide variant	NM_015693.4(INTU):c.1092-12A>G	not provided [RCV002649678]	likely benign	4	127674112	127674112	Human		name
156014505	CV2013415	single nucleotide variant	NM_015693.4(INTU):c.1503+16G>A	not provided [RCV002735070]	likely benign	4	127700079	127700079	Human		name
156031892	CV2036975	single nucleotide variant	NM_015693.4(INTU):c.2718-14C>T	not provided [RCV002781144]	benign	4	127716311	127716311	Human		name
155965205	CV2048741	single nucleotide variant	NM_015693.4(INTU):c.1260-19A>G	not provided [RCV002776456]	benign	4	127687659	127687659	Human		name
405157444	CV2956491	single nucleotide variant	NM_015693.4(INTU):c.1259+18T>C	not provided [RCV003674353]	likely benign	4	127684504	127684504	Human		name
405242472	CV2971021	single nucleotide variant	NM_015693.4(INTU):c.2559+19T>A	not provided [RCV003684286]	likely benign	4	127711121	127711121	Human		name
405035065	CV3006685	single nucleotide variant	NM_015693.4(INTU):c.2717+20A>G	not provided [RCV003695783]	likely benign	4	127714113	127714113	Human		name
404978053	CV3012099	single nucleotide variant	NM_015693.4(INTU):c.1181+10G>C	not provided [RCV003690659]	likely benign	4	127674223	127674223	Human		name
405211061	CV3062323	deletion	NM_015693.4(INTU):c.2717+17del	not provided [RCV003731914]	benign	4	127714103	127714103	Human		name
405121991	CV3131584	deletion	NM_015693.4(INTU):c.2370-10del	not provided [RCV003837448]	benign	4	127710896	127710896	Human		name
405016641	CV3139120	single nucleotide variant	NM_015693.4(INTU):c.2272-11A>G	not provided [RCV003829457]	likely benign	4	127708560	127708560	Human		name
597844056	CV3736075	single nucleotide variant	NM_015693.4(INTU):c.2718-14C>A	not provided [RCV005065423]	likely benign	4	127716311	127716311	Human		name
597841727	CV3752786	single nucleotide variant	NM_015693.4(INTU):c.2560-13T>A	not provided [RCV005086515]	likely benign	4	127713923	127713923	Human		name
597976281	CV3829304	single nucleotide variant	NM_015693.4(INTU):c.1450-16T>A	not provided [RCV005169753]	likely benign	4	127699994	127699994	Human		name
150331288	CV1163442	single nucleotide variant	NM_015693.4(INTU):c.2370-209A>G	not provided [RCV001527742]	benign	4	127710704	127710704	Human		name
150336195	CV1164917	single nucleotide variant	NM_015693.4(INTU):c.1504-108A>G	not provided [RCV001530734]	benign	4	127704120	127704120	Human		name
150512118	CV1228428	single nucleotide variant	NM_015693.4(INTU):c.2559+188C>T	not provided [RCV001637560]	benign	4	127711290	127711290	Human		name
150462069	CV1253320	single nucleotide variant	NM_015693.4(INTU):c.1503+186C>T	not provided [RCV001669649]	benign	4	127700249	127700249	Human		name
150447283	CV1261506	single nucleotide variant	NM_015693.4(INTU):c.1091+168A>G	not provided [RCV001680180]	benign	4	127669322	127669322	Human		name
404987915	CV3179828	deletion	NM_015693.4(INTU):c.1450-9_1450-8del	not provided [RCV003881305]	benign	4	127699990	127699991	Human		name
405291777	CV3206131	duplication	NM_015693.4(INTU):c.1450-9_1450-8dup	INTU-related disorder [RCV003964201]	likely benign	4	127699989	127699990	Human		name , trait , alternate_id
597944023	CV3847816	deletion	NM_015693.4(INTU):c.2370-8_2370-4del	not provided [RCV005188544]	likely benign	4	127710905	127710909	Human		name
156440832	CV1940555	single nucleotide variant	NM_015693.4(INTU):c.114G>C (p.Ser38=)	not provided [RCV003110873]	likely benign	4	127633148	127633148	Human		name
156303698	CV2079653	single nucleotide variant	NM_015693.4(INTU):c.216G>A (p.Glu72=)	not provided [RCV002857302]	likely benign	4	127643590	127643590	Human		name
405191043	CV2988148	single nucleotide variant	NM_015693.4(INTU):c.270C>T (p.Phe90=)	not provided [RCV003706464]	likely benign	4	127643644	127643644	Human		name
405245594	CV3051621	insertion	NM_015693.4(INTU):c.1450-9_1450-8insG	not provided [RCV003720352]	uncertain significance	4	127700001	127700002	Human		name
597830369	CV3742995	single nucleotide variant	NM_015693.4(INTU):c.234C>T (p.Leu78=)	not provided [RCV005062003]	likely benign	4	127643608	127643608	Human		name
150332420	CV1169025	single nucleotide variant	NM_015693.4(INTU):c.813G>A (p.Thr271=)	INTU-related disorder [RCV003983964]\|Orofaciodigital syndrome 17 [RCV001730828]\|Short-rib thoracic dysplasia 20 with polydactyly [RCV001730829]\|not provided [RCV001536874]	benign	4	127663425	127663425	Human	2	name , trait , alternate_id
150475575	CV1239758	single nucleotide variant	NM_015693.4(INTU):c.894C>T (p.Ile298=)	not provided [RCV001651935]	benign	4	127663506	127663506	Human		name
150501806	CV1241039	single nucleotide variant	NM_015693.4(INTU):c.471A>G (p.Arg157=)	INTU-related disorder [RCV003975800]\|Orofaciodigital syndrome 17 [RCV001730910]\|Short-rib thoracic dysplasia 20 with polydactyly [RCV001730911]\|not provided [RCV001656935]	benign	4	127643845	127643845	Human	2	name , trait , alternate_id
151839179	CV1345012	single nucleotide variant	NM_015693.4(INTU):c.792A>G (p.Ala264=)	not provided [RCV002015120]	likely benign\|uncertain significance	4	127663404	127663404	Human		name
152106541	CV1527391	single nucleotide variant	NM_015693.4(INTU):c.861C>G (p.Val287=)	not provided [RCV002079683]	likely benign	4	127663473	127663473	Human		name
152076626	CV1564543	single nucleotide variant	NM_015693.4(INTU):c.984T>G (p.Leu328=)	not provided [RCV002192495]	likely benign	4	127669047	127669047	Human		name
156081091	CV1883589	single nucleotide variant	NM_015693.4(INTU):c.957A>G (p.Glu319=)	not provided [RCV003079869]	likely benign	4	127663569	127663569	Human		name
156406230	CV1894816	single nucleotide variant	NM_015693.4(INTU):c.597C>T (p.Thr199=)	not provided [RCV003070284]	likely benign	4	127643971	127643971	Human		name
156405528	CV1919379	single nucleotide variant	NM_015693.4(INTU):c.32C>G (p.Pro11Arg)	not provided [RCV002585668]	uncertain significance	4	127633066	127633066	Human		name
156434318	CV1946947	single nucleotide variant	NM_015693.4(INTU):c.651A>T (p.Gly217=)	INTU-related disorder [RCV003973752]\|not provided [RCV003104400]	likely benign	4	127644025	127644025	Human	1	name , trait , alternate_id
156391322	CV1964895	single nucleotide variant	NM_015693.4(INTU):c.544C>T (p.Leu182=)	not provided [RCV002583900]	likely benign	4	127643918	127643918	Human		name
156416726	CV1969960	single nucleotide variant	NM_015693.4(INTU):c.948C>T (p.Leu316=)	not provided [RCV002589841]	likely benign	4	127663560	127663560	Human		name
156345729	CV1995195	single nucleotide variant	NM_015693.4(INTU):c.77A>T (p.Asp26Val)	not provided [RCV002650563]	uncertain significance	4	127633111	127633111	Human		name
156173750	CV2000169	single nucleotide variant	NM_015693.4(INTU):c.59C>T (p.Pro20Leu)	not provided [RCV002642802]	uncertain significance	4	127633093	127633093	Human		name
156385359	CV2128395	single nucleotide variant	NM_015693.4(INTU):c.75A>T (p.Glu25Asp)	not provided [RCV002943446]	likely benign	4	127633109	127633109	Human		name
156152682	CV2131864	single nucleotide variant	NM_015693.4(INTU):c.92T>A (p.Phe31Tyr)	Inborn genetic diseases [RCV002982710]\|not provided [RCV002982709]	uncertain significance	4	127633126	127633126	Human	1	name
404994837	CV2996109	deletion	NM_015693.4(INTU):c.2717+21_2717+30del	not provided [RCV003692611]	likely benign	4	127714108	127714117	Human		name
405124088	CV3043246	single nucleotide variant	NM_015693.4(INTU):c.58C>G (p.Pro20Ala)	Inborn genetic diseases [RCV004985536]\|not provided [RCV003724177]	uncertain significance	4	127633092	127633092	Human	1	name
405163921	CV3062710	single nucleotide variant	NM_015693.4(INTU):c.327C>G (p.Pro109=)	not provided [RCV003727195]	likely benign	4	127643701	127643701	Human		name
405206977	CV3064445	single nucleotide variant	NM_015693.4(INTU):c.417A>G (p.Val139=)	not provided [RCV003731435]	likely benign	4	127643791	127643791	Human		name
405040393	CV3141060	single nucleotide variant	NM_015693.4(INTU):c.83A>T (p.Asp28Val)	not provided [RCV003831353]	uncertain significance	4	127633117	127633117	Human		name
405175499	CV3152260	single nucleotide variant	NM_015693.4(INTU):c.35G>A (p.Ser12Asn)	not provided [RCV003858215]	uncertain significance	4	127633069	127633069	Human		name
597911444	CV3745615	single nucleotide variant	NM_015693.4(INTU):c.37T>G (p.Ser13Ala)	not provided [RCV005073616]	uncertain significance	4	127633071	127633071	Human		name
597943850	CV3765915	single nucleotide variant	NM_015693.4(INTU):c.666C>T (p.Ser222=)	not provided [RCV005119293]	likely benign	4	127644040	127644040	Human		name
597923301	CV3777840	single nucleotide variant	NM_015693.4(INTU):c.684T>G (p.Gly228=)	not provided [RCV005130564]	likely benign	4	127656637	127656637	Human		name
597969350	CV3791321	single nucleotide variant	NM_015693.4(INTU):c.732C>T (p.Ile244=)	not provided [RCV005141353]	likely benign	4	127656685	127656685	Human		name
597896169	CV3834557	single nucleotide variant	NM_015693.4(INTU):c.801G>A (p.Val267=)	not provided [RCV005180468]	likely benign	4	127663413	127663413	Human		name
8631028	CV86184	single nucleotide variant	NM_015693.3(INTU):c.960C>T (p.Thr320=)	Malignant melanoma [RCV000066273]	not provided	4	127663572	127663572	Human		name
151849136	CV1402981	single nucleotide variant	NM_015693.4(INTU):c.267G>C (p.Arg89Ser)	not provided [RCV001882363]	uncertain significance	4	127643641	127643641	Human		name
151821754	CV1418586	single nucleotide variant	NM_015693.4(INTU):c.2787C>T (p.Ala929=)	INTU-related disorder [RCV003958420]\|not provided [RCV001954825]	likely benign	4	127716394	127716394	Human	1	name , trait , alternate_id
152037839	CV1524979	single nucleotide variant	NM_015693.4(INTU):c.2320T>C (p.Leu774=)	not provided [RCV002165241]	likely benign	4	127708619	127708619	Human		name
152170843	CV1536632	single nucleotide variant	NM_015693.4(INTU):c.104T>C (p.Val35Ala)	INTU-related disorder [RCV003903452]\|not provided [RCV002183294]	benign	4	127633138	127633138	Human	1	name , trait , alternate_id
152129587	CV1610321	single nucleotide variant	NM_015693.4(INTU):c.1410C>G (p.Leu470=)	not provided [RCV002136759]	benign	4	127687828	127687828	Human		name
156322413	CV1885837	single nucleotide variant	NM_015693.4(INTU):c.1749G>A (p.Pro583=)	not provided [RCV003089255]	benign	4	127705773	127705773	Human		name
156357444	CV1891208	single nucleotide variant	NM_015693.4(INTU):c.2202G>A (p.Pro734=)	INTU-related disorder [RCV003906488]\|not provided [RCV003091456]	likely benign	4	127706900	127706900	Human	1	name , trait , alternate_id
156417558	CV1909829	single nucleotide variant	NM_015693.4(INTU):c.217G>T (p.Asp73Tyr)	not provided [RCV002610781]	uncertain significance	4	127643591	127643591	Human		name
156135889	CV1914677	single nucleotide variant	NM_015693.4(INTU):c.2082A>G (p.Arg694=)	not provided [RCV002623483]	likely benign	4	127706780	127706780	Human		name
156148429	CV1932425	single nucleotide variant	NM_015693.4(INTU):c.1377C>T (p.Tyr459=)	not provided [RCV002623916]	likely benign	4	127687795	127687795	Human		name
156445933	CV1952184	single nucleotide variant	NM_015693.4(INTU):c.1842T>C (p.Ala614=)	not provided [RCV003116896]	likely benign	4	127706540	127706540	Human		name
156416051	CV1966426	single nucleotide variant	NM_015693.4(INTU):c.212G>A (p.Ser71Asn)	not provided [RCV002589502]	uncertain significance	4	127643586	127643586	Human		name
156053203	CV1974455	single nucleotide variant	NM_015693.4(INTU):c.2223A>G (p.Arg741=)	not provided [RCV002590728]	likely benign	4	127706921	127706921	Human		name
156398733	CV1982049	single nucleotide variant	NM_015693.4(INTU):c.2022G>A (p.Ser674=)	not provided [RCV002635766]	likely benign	4	127706720	127706720	Human		name
156389759	CV1990003	single nucleotide variant	NM_015693.4(INTU):c.107G>C (p.Ser36Thr)	Inborn genetic diseases [RCV005350972]\|not provided [RCV002604563]	uncertain significance	4	127633141	127633141	Human	1	name
156390054	CV1998577	single nucleotide variant	NM_015693.4(INTU):c.109G>T (p.Asp37Tyr)	not provided [RCV002680673]	uncertain significance	4	127633143	127633143	Human		name
156367844	CV2021051	single nucleotide variant	NM_015693.4(INTU):c.2283G>A (p.Lys761=)	not provided [RCV002721303]	likely benign	4	127708582	127708582	Human		name
156134355	CV2022874	single nucleotide variant	NM_015693.4(INTU):c.2373G>A (p.Leu791=)	not provided [RCV002740677]	likely benign	4	127710916	127710916	Human		name
156299401	CV2069829	single nucleotide variant	NM_015693.4(INTU):c.1128G>A (p.Val376=)	not provided [RCV002833549]	uncertain significance	4	127674160	127674160	Human		name
156043955	CV2071808	single nucleotide variant	NM_015693.4(INTU):c.295G>A (p.Asp99Asn)	not provided [RCV002846206]	uncertain significance	4	127643669	127643669	Human		name
156340299	CV2092690	single nucleotide variant	NM_015693.4(INTU):c.2721A>G (p.Arg907=)	INTU-related disorder [RCV003916600]\|not provided [RCV002900440]	likely benign	4	127716328	127716328	Human	1	name , trait , alternate_id
156309898	CV2111226	single nucleotide variant	NM_015693.4(INTU):c.2436T>C (p.Phe812=)	not provided [RCV002937104]	likely benign	4	127710979	127710979	Human		name
156331619	CV2112717	single nucleotide variant	NM_015693.4(INTU):c.2548T>C (p.Leu850=)	INTU-related disorder [RCV003936409]\|not provided [RCV002938401]	likely benign	4	127711091	127711091	Human	1	name , trait , alternate_id
156282557	CV2161070	single nucleotide variant	NM_015693.4(INTU):c.1617C>T (p.Ala539=)	not provided [RCV003027367]	likely benign	4	127705641	127705641	Human		name
155922491	CV2240699	single nucleotide variant	NM_015693.4(INTU):c.259C>T (p.His87Tyr)	Inborn genetic diseases [RCV002773193]	uncertain significance	4	127643633	127643633	Human	1	name
401906169	CV2802382	deletion	NM_015693.4(INTU):c.310del (p.Arg104fs)	INTU-related disorder [RCV003421044]\|not provided [RCV005099983]	likely pathogenic\|uncertain significance	4	127643682	127643682	Human	1	name , trait , alternate_id
405051585	CV2883207	single nucleotide variant	NM_015693.4(INTU):c.2139T>C (p.Ser713=)	not provided [RCV003579725]	likely benign	4	127706837	127706837	Human		name
405142410	CV2958651	single nucleotide variant	NM_015693.4(INTU):c.1257T>C (p.Asp419=)	not provided [RCV003673262]	likely benign	4	127684484	127684484	Human		name
405148129	CV2962745	single nucleotide variant	NM_015693.4(INTU):c.149A>C (p.Asp50Ala)	not provided [RCV003673704]	uncertain significance	4	127643523	127643523	Human		name
405241134	CV2970671	single nucleotide variant	NM_015693.4(INTU):c.2361C>T (p.Asn787=)	not provided [RCV003684068]	likely benign	4	127708660	127708660	Human		name
405201583	CV2979132	single nucleotide variant	NM_015693.4(INTU):c.1431A>G (p.Thr477=)	not provided [RCV003678236]	likely benign	4	127687849	127687849	Human		name
402491872	CV2980975	deletion	NM_015693.4(INTU):c.545del (p.Leu182fs)	not provided [RCV003713784]	uncertain significance	4	127643919	127643919	Human		name
405118075	CV3020275	single nucleotide variant	NM_015693.4(INTU):c.1020T>C (p.Leu340=)	not provided [RCV003700345]	likely benign	4	127669083	127669083	Human		name
405151587	CV3031362	single nucleotide variant	NM_015693.4(INTU):c.2712A>T (p.Val904=)	not provided [RCV003703287]	likely benign	4	127714088	127714088	Human		name
405252048	CV3046188	single nucleotide variant	NM_015693.4(INTU):c.2547A>G (p.Thr849=)	not provided [RCV003721951]	likely benign	4	127711090	127711090	Human		name
405191473	CV3069855	single nucleotide variant	NM_015693.4(INTU):c.229A>G (p.Ser77Gly)	not provided [RCV003729682]	uncertain significance	4	127643603	127643603	Human		name
405208757	CV3117171	single nucleotide variant	NM_015693.4(INTU):c.2574A>G (p.Leu858=)	not provided [RCV003822958]	likely benign	4	127713950	127713950	Human		name
405209119	CV3117269	single nucleotide variant	NM_015693.4(INTU):c.198T>G (p.Phe66Leu)	not provided [RCV003823056]	uncertain significance	4	127643572	127643572	Human		name
405140917	CV3130911	single nucleotide variant	NM_015693.4(INTU):c.1737T>C (p.Thr579=)	not provided [RCV003839145]	likely benign	4	127705761	127705761	Human		name
404988896	CV3131853	single nucleotide variant	NM_015693.4(INTU):c.1338G>A (p.Ala446=)	not provided [RCV003826981]	likely benign	4	127687756	127687756	Human		name
405070445	CV3140191	single nucleotide variant	NM_015693.4(INTU):c.131C>T (p.Ala44Val)	not provided [RCV003833346]	uncertain significance	4	127633165	127633165	Human		name
405222148	CV3158225	single nucleotide variant	NM_015693.4(INTU):c.283A>C (p.Ile95Leu)	Inborn genetic diseases [RCV004369545]\|not provided [RCV003863721]	uncertain significance	4	127643657	127643657	Human	1	name
405165530	CV3160355	single nucleotide variant	NM_015693.4(INTU):c.1773G>A (p.Leu591=)	not provided [RCV003857234]	likely benign	4	127705797	127705797	Human		name
405129589	CV3163240	single nucleotide variant	NM_015693.4(INTU):c.1869A>G (p.Val623=)	not provided [RCV003854421]	likely benign	4	127706567	127706567	Human		name
405225193	CV3168834	single nucleotide variant	NM_015693.4(INTU):c.1164T>C (p.Ile388=)	not provided [RCV003864049]	likely benign	4	127674196	127674196	Human		name
402467424	CV3177824	single nucleotide variant	NM_015693.4(INTU):c.1833A>G (p.Ala611=)	not provided [RCV003873262]	likely benign	4	127706531	127706531	Human		name
405278534	CV3221946	single nucleotide variant	NM_015693.4(INTU):c.1755T>A (p.Pro585=)	INTU-related disorder [RCV003976489]	likely benign	4	127705779	127705779	Human		name , trait , alternate_id
405793889	CV3264398	single nucleotide variant	NM_015693.4(INTU):c.260A>C (p.His87Pro)	Inborn genetic diseases [RCV004400675]	uncertain significance	4	127643634	127643634	Human	1	name
407429582	CV3413992	deletion	NM_015693.4(INTU):c.576del (p.Lys193fs)	Orofaciodigital syndrome 17 [RCV004595405]	pathogenic	4	127643949	127643949	Human	1	name
597837452	CV3740204	single nucleotide variant	NM_015693.4(INTU):c.2406C>T (p.Tyr802=)	not provided [RCV005064232]	likely benign	4	127710949	127710949	Human		name
597830652	CV3743190	single nucleotide variant	NM_015693.4(INTU):c.1872T>C (p.Tyr624=)	not provided [RCV005062198]	likely benign	4	127706570	127706570	Human		name
597958113	CV3755256	single nucleotide variant	NM_015693.4(INTU):c.287T>C (p.Ile96Thr)	not provided [RCV005080926]	uncertain significance	4	127643661	127643661	Human		name
597847436	CV3762017	single nucleotide variant	NM_015693.4(INTU):c.1902G>A (p.Gln634=)	not provided [RCV005087435]	likely benign	4	127706600	127706600	Human		name
597952954	CV3798866	single nucleotide variant	NM_015693.4(INTU):c.130G>A (p.Ala44Thr)	not provided [RCV005136440]	uncertain significance	4	127633164	127633164	Human		name
597851003	CV3803711	single nucleotide variant	NM_015693.4(INTU):c.266G>C (p.Arg89Thr)	not provided [RCV005145428]	uncertain significance	4	127643640	127643640	Human		name
597937373	CV3807833	single nucleotide variant	NM_015693.4(INTU):c.1965T>C (p.Ser655=)	not provided [RCV005158212]	likely benign	4	127706663	127706663	Human		name
597877633	CV3813314	single nucleotide variant	NM_015693.4(INTU):c.2271G>A (p.Lys757=)	not provided [RCV005149250]	uncertain significance	4	127706969	127706969	Human		name
597967348	CV3824218	single nucleotide variant	NM_015693.4(INTU):c.2241T>C (p.Asp747=)	not provided [RCV005165441]	likely benign	4	127706939	127706939	Human		name
597841372	CV3825508	single nucleotide variant	NM_015693.4(INTU):c.1710C>T (p.His570=)	not provided [RCV005172191]	likely benign	4	127705734	127705734	Human		name
597976111	CV3829114	single nucleotide variant	NM_015693.4(INTU):c.1399T>C (p.Leu467=)	not provided [RCV005169563]	likely benign	4	127687817	127687817	Human		name
597859434	CV3832867	single nucleotide variant	NM_015693.4(INTU):c.2775C>T (p.Val925=)	not provided [RCV005174780]	likely benign	4	127716382	127716382	Human		name
597953234	CV3843937	single nucleotide variant	NM_015693.4(INTU):c.269T>C (p.Phe90Ser)	Inborn genetic diseases [RCV005353445]\|not provided [RCV005190799]	uncertain significance	4	127643643	127643643	Human	1	name
13521618	CV496109	deletion	NM_015693.4(INTU):c.396del (p.Asn132fs)	Mohr syndrome [RCV000851201]\|Orofaciodigital syndrome 17 [RCV000599596]	pathogenic\|likely pathogenic	4	127643770	127643770	Human	2	name
34890782	CV904446	single nucleotide variant	NM_015693.4(INTU):c.2085G>A (p.Thr695=)	not provided [RCV001171742]	benign\|likely benign	4	127706783	127706783	Human		name
150452147	CV1276690	microsatellite	NM_015693.4(INTU):c.2717+215_2717+216del	not provided [RCV001708479]	benign	4	127714306	127714307	Human		name
156322092	CV1897932	single nucleotide variant	NM_015693.4(INTU):c.412C>T (p.Pro138Ser)	not provided [RCV002579313]	uncertain significance	4	127643786	127643786	Human		name
156080041	CV1908874	single nucleotide variant	NM_015693.4(INTU):c.590G>A (p.Arg197Lys)	not provided [RCV002591547]	uncertain significance	4	127643964	127643964	Human		name
156022757	CV1911736	single nucleotide variant	NM_015693.4(INTU):c.356G>C (p.Arg119Thr)	Inborn genetic diseases [RCV002636787]\|not provided [RCV002607323]	uncertain significance	4	127643730	127643730	Human	1	name
156377714	CV1913959	single nucleotide variant	NM_015693.4(INTU):c.607G>A (p.Gly203Ser)	not provided [RCV002603722]	uncertain significance	4	127643981	127643981	Human		name
156063164	CV1925755	single nucleotide variant	NM_015693.4(INTU):c.668G>A (p.Gly223Asp)	not provided [RCV002621016]	uncertain significance	4	127644042	127644042	Human		name
156438867	CV1947787	single nucleotide variant	NM_015693.4(INTU):c.380G>A (p.Arg127His)	not provided [RCV003108815]	uncertain significance	4	127643754	127643754	Human		name
156386292	CV1979781	duplication	NM_015693.4(INTU):c.2739dup (p.Pro914fs)	not provided [RCV002604317]	uncertain significance	4	127716342	127716343	Human		name
156341907	CV1984970	single nucleotide variant	NM_015693.4(INTU):c.667G>A (p.Gly223Ser)	not provided [RCV002631472]	uncertain significance	4	127644041	127644041	Human		name
156021045	CV2025411	single nucleotide variant	NM_015693.4(INTU):c.319T>C (p.Tyr107His)	not provided [RCV002735378]	uncertain significance	4	127643693	127643693	Human		name
156131125	CV2036566	single nucleotide variant	NM_015693.4(INTU):c.625G>A (p.Val209Met)	Inborn genetic diseases [RCV002786173]\|not provided [RCV002786174]	uncertain significance	4	127643999	127643999	Human	1	name
156007295	CV2099819	single nucleotide variant	NM_015693.4(INTU):c.712G>A (p.Asp238Asn)	not provided [RCV002908916]	uncertain significance	4	127656665	127656665	Human		name
156292711	CV2111492	single nucleotide variant	NM_015693.4(INTU):c.704A>G (p.Asn235Ser)	not provided [RCV002922220]	uncertain significance	4	127656657	127656657	Human		name
156076814	CV2291556	single nucleotide variant	NM_015693.4(INTU):c.383G>A (p.Cys128Tyr)	Inborn genetic diseases [RCV002887202]	likely benign	4	127643757	127643757	Human	1	name
156288292	CV2301323	single nucleotide variant	NM_015693.4(INTU):c.331C>T (p.Leu111Phe)	Inborn genetic diseases [RCV002896986]	uncertain significance	4	127643705	127643705	Human	1	name
156247543	CV2306966	single nucleotide variant	NM_015693.4(INTU):c.995C>T (p.Pro332Leu)	Inborn genetic diseases [RCV002919713]	uncertain significance	4	127669058	127669058	Human	1	name
156052609	CV2329035	single nucleotide variant	NM_015693.4(INTU):c.515T>A (p.Val172Asp)	Inborn genetic diseases [RCV002950195]\|not provided [RCV003561124]	uncertain significance	4	127643889	127643889	Human	1	name
329396271	CV2459472	single nucleotide variant	NM_015693.4(INTU):c.396T>A (p.Asn132Lys)	Inborn genetic diseases [RCV003219483]	uncertain significance	4	127643770	127643770	Human	1	name
401776019	CV2706851	single nucleotide variant	NM_015693.4(INTU):c.517A>G (p.Ile173Val)	Inborn genetic diseases [RCV003263090]	uncertain significance	4	127643891	127643891	Human	1	name
401874751	CV2781167	single nucleotide variant	NM_015693.4(INTU):c.697G>T (p.Ala233Ser)	Inborn genetic diseases [RCV003362372]	uncertain significance	4	127656650	127656650	Human	1	name
401898592	CV2782521	single nucleotide variant	NM_015693.4(INTU):c.379C>T (p.Arg127Cys)	Inborn genetic diseases [RCV003376773]\|not provided [RCV005104164]	uncertain significance	4	127643753	127643753	Human	1	name
405866869	CV2842378	single nucleotide variant	NM_015693.4(INTU):c.663G>T (p.Lys221Asn)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557735]	likely benign	4	127644037	127644037	Human		name
405192455	CV2875887	single nucleotide variant	NM_015693.4(INTU):c.469C>T (p.Arg157Ter)	not provided [RCV003550454]	uncertain significance	4	127643843	127643843	Human		name
405200185	CV2877132	single nucleotide variant	NM_015693.4(INTU):c.688G>A (p.Val230Ile)	not provided [RCV003551310]	uncertain significance	4	127656641	127656641	Human		name
405161050	CV2899349	single nucleotide variant	NM_015693.4(INTU):c.800T>C (p.Val267Ala)	not provided [RCV003562398]	uncertain significance	4	127663412	127663412	Human		name
405130902	CV2953613	deletion	NM_015693.4(INTU):c.2173del (p.Asp725fs)	not provided [RCV003672326]	uncertain significance	4	127706871	127706871	Human		name
405149807	CV2956914	single nucleotide variant	NM_015693.4(INTU):c.470G>A (p.Arg157Gln)	not provided [RCV003669973]	uncertain significance	4	127643844	127643844	Human		name
405227887	CV2963704	single nucleotide variant	NM_015693.4(INTU):c.511A>G (p.Thr171Ala)	not provided [RCV003681743]	uncertain significance	4	127643885	127643885	Human		name
405242222	CV2971040	single nucleotide variant	NM_015693.4(INTU):c.337C>A (p.Gln113Lys)	not provided [RCV003684301]	uncertain significance	4	127643711	127643711	Human		name
405192054	CV2984931	single nucleotide variant	NM_015693.4(INTU):c.940C>G (p.Leu314Val)	not provided [RCV003706555]	uncertain significance	4	127663552	127663552	Human		name
402510360	CV2994620	single nucleotide variant	NM_015693.4(INTU):c.517A>T (p.Ile173Phe)	not provided [RCV003689405]	uncertain significance	4	127643891	127643891	Human		name
405226163	CV3042221	single nucleotide variant	NM_015693.4(INTU):c.737G>C (p.Arg246Thr)	not provided [RCV003710647]	uncertain significance	4	127656690	127656690	Human		name
405178613	CV3056535	single nucleotide variant	NM_015693.4(INTU):c.407A>G (p.Asn136Ser)	Inborn genetic diseases [RCV004985553]\|not provided [RCV003728569]	likely benign\|uncertain significance	4	127643781	127643781	Human	1	name
405133415	CV3115196	single nucleotide variant	NM_015693.4(INTU):c.659T>C (p.Met220Thr)	Inborn genetic diseases [RCV004366698]\|not provided [RCV003816041]	uncertain significance	4	127644033	127644033	Human	1	name
405115444	CV3119213	single nucleotide variant	NM_015693.4(INTU):c.811A>T (p.Thr271Ser)	not provided [RCV003814249]	uncertain significance	4	127663423	127663423	Human		name
405143247	CV3126059	single nucleotide variant	NM_015693.4(INTU):c.503A>G (p.Lys168Arg)	not provided [RCV003816975]	uncertain significance	4	127643877	127643877	Human		name
405200899	CV3128855	single nucleotide variant	NM_015693.4(INTU):c.452G>A (p.Gly151Glu)	not provided [RCV003821898]	uncertain significance	4	127643826	127643826	Human		name
405151863	CV3142108	single nucleotide variant	NM_015693.4(INTU):c.618G>C (p.Glu206Asp)	not provided [RCV003840030]	uncertain significance	4	127643992	127643992	Human		name
405200118	CV3147243	single nucleotide variant	NM_015693.4(INTU):c.455T>G (p.Val152Gly)	Inborn genetic diseases [RCV005353310]\|not provided [RCV003844403]	uncertain significance	4	127643829	127643829	Human	1	name
405082613	CV3167133	single nucleotide variant	NM_015693.4(INTU):c.931T>C (p.Tyr311His)	not provided [RCV003851712]	uncertain significance	4	127663543	127663543	Human		name
405255439	CV3172354	single nucleotide variant	NM_015693.4(INTU):c.404A>G (p.Asp135Gly)	Inborn genetic diseases [RCV004987130]\|not provided [RCV003872292]	uncertain significance	4	127643778	127643778	Human	1	name
404990120	CV3179949	single nucleotide variant	NM_015693.4(INTU):c.616G>A (p.Glu206Lys)	Inborn genetic diseases [RCV004987132]\|not provided [RCV003881427]	uncertain significance	4	127643990	127643990	Human	1	name
407522949	CV3455091	single nucleotide variant	NM_015693.4(INTU):c.316A>G (p.Lys106Glu)	Inborn genetic diseases [RCV004630893]	uncertain significance	4	127643690	127643690	Human	1	name
408366669	CV3513020	deletion	NM_015693.4(INTU):c.2391del (p.Asn797fs)	INTU-related disorder [RCV004756876]\|not provided [RCV005059851]	uncertain significance	4	127710934	127710934	Human	1	name , trait , alternate_id
597700451	CV3680251	single nucleotide variant	NM_015693.4(INTU):c.314A>G (p.Lys105Arg)	Inborn genetic diseases [RCV004987913]	uncertain significance	4	127643688	127643688	Human	1	name
597700465	CV3680253	single nucleotide variant	NM_015693.4(INTU):c.457A>G (p.Ile153Val)	Inborn genetic diseases [RCV004987915]	likely benign	4	127643831	127643831	Human	1	name
597700472	CV3680254	single nucleotide variant	NM_015693.4(INTU):c.307G>C (p.Glu103Gln)	Inborn genetic diseases [RCV004987916]	uncertain significance	4	127643681	127643681	Human	1	name
597900275	CV3741033	single nucleotide variant	NM_015693.4(INTU):c.463C>T (p.Gln155Ter)	not provided [RCV005072196]	uncertain significance	4	127643837	127643837	Human		name
597938920	CV3788382	duplication	NM_015693.4(INTU):c.1024dup (p.Ser342fs)	not provided [RCV005133057]	uncertain significance	4	127669083	127669084	Human		name
597975179	CV3798785	single nucleotide variant	NM_015693.4(INTU):c.559G>A (p.Gly187Arg)	not provided [RCV005144374]	uncertain significance	4	127643933	127643933	Human		name
597948571	CV3818349	single nucleotide variant	NM_015693.4(INTU):c.530A>C (p.Glu177Ala)	not provided [RCV005160610]	uncertain significance	4	127643904	127643904	Human		name
597893246	CV3833404	single nucleotide variant	NM_015693.4(INTU):c.608G>T (p.Gly203Val)	not provided [RCV005180096]	uncertain significance	4	127643982	127643982	Human		name
597892872	CV3856788	single nucleotide variant	NM_015693.4(INTU):c.478G>C (p.Asp160His)	not provided [RCV005200857]	uncertain significance	4	127643852	127643852	Human		name
13521157	CV496108	single nucleotide variant	NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	Short-rib thoracic dysplasia 20 with polydactyly [RCV000755729]\|Short-rib thoracic dysplasia 7/20 with polydactyly, digenic [RCV000599227]\|not provided [RCV002532709]	pathogenic\|likely pathogenic\|uncertain significance	4	127663438	127663438	Human	1	name
150467339	CV1218453	single nucleotide variant	NM_015693.4(INTU):c.2247A>C (p.Leu749Phe)	not provided [RCV001614490]	benign	4	127706945	127706945	Human		name
151662472	CV1333137	duplication	NM_015693.4(INTU):c.1305dup (p.Asn436Ter)	Short-rib thoracic dysplasia 20 with polydactyly [RCV001837370]	likely pathogenic	4	127687716	127687717	Human	1	name
151816572	CV1344591	single nucleotide variant	NM_015693.4(INTU):c.2209G>A (p.Val737Ile)	not provided [RCV001919142]	uncertain significance	4	127706907	127706907	Human		name
151890477	CV1350548	single nucleotide variant	NM_015693.4(INTU):c.2407G>A (p.Val803Ile)	Inborn genetic diseases [RCV004044814]\|not provided [RCV002038827]	uncertain significance	4	127710950	127710950	Human	1	name
151724313	CV1350801	single nucleotide variant	NM_015693.4(INTU):c.1412C>T (p.Pro471Leu)	Inborn genetic diseases [RCV004041581]\|not provided [RCV001891531]	uncertain significance	4	127687830	127687830	Human	1	name
151722412	CV1352322	single nucleotide variant	NM_015693.4(INTU):c.1800G>A (p.Met600Ile)	not provided [RCV002040265]	uncertain significance	4	127706498	127706498	Human		name
151771986	CV1360939	single nucleotide variant	NM_015693.4(INTU):c.2267T>C (p.Leu756Pro)	not provided [RCV001864161]	uncertain significance	4	127706965	127706965	Human		name
151835160	CV1418935	single nucleotide variant	NM_015693.4(INTU):c.2133T>G (p.Cys711Trp)	Inborn genetic diseases [RCV003303362]\|not provided [RCV001935472]	uncertain significance	4	127706831	127706831	Human	1	name
151723022	CV1442756	single nucleotide variant	NM_015693.4(INTU):c.1348T>G (p.Ser450Ala)	not provided [RCV002040333]	uncertain significance	4	127687766	127687766	Human		name
151855004	CV1478570	single nucleotide variant	NM_015693.4(INTU):c.1650A>T (p.Leu550Phe)	Inborn genetic diseases [RCV002548760]\|not provided [RCV002017065]	uncertain significance	4	127705674	127705674	Human	1	name
151763980	CV1499451	single nucleotide variant	NM_015693.4(INTU):c.2255G>C (p.Ser752Thr)	not provided [RCV001863420]	uncertain significance	4	127706953	127706953	Human		name
151888867	CV1509285	single nucleotide variant	NM_015693.4(INTU):c.2595T>A (p.Asp865Glu)	not provided [RCV001888059]	uncertain significance	4	127713971	127713971	Human		name
151764367	CV1516944	single nucleotide variant	NM_015693.4(INTU):c.2669G>C (p.Trp890Ser)	Inborn genetic diseases [RCV003365665]\|not provided [RCV002024736]	uncertain significance	4	127714045	127714045	Human	1	name
152131182	CV1523715	single nucleotide variant	NM_015693.4(INTU):c.1109A>T (p.Asn370Ile)	not provided [RCV002136937]	benign	4	127674141	127674141	Human		name
152175542	CV1526878	single nucleotide variant	NM_015693.4(INTU):c.2114G>A (p.Arg705His)	INTU-related disorder [RCV003960886]\|not provided [RCV002163677]	benign	4	127706812	127706812	Human	1	name , trait , alternate_id
152164485	CV1625361	single nucleotide variant	NM_015693.4(INTU):c.2074T>G (p.Cys692Gly)	not provided [RCV002160258]	benign	4	127706772	127706772	Human		name
153301369	CV1686907	single nucleotide variant	NM_015693.4(INTU):c.2527C>T (p.Arg843Cys)	Short-rib thoracic dysplasia 20 with polydactyly [RCV002262195]\|not provided [RCV003774825]	uncertain significance	4	127711070	127711070	Human	1	name
155724501	CV1772382	single nucleotide variant	NM_015693.4(INTU):c.2068C>T (p.Pro690Ser)	not provided [RCV002296819]	uncertain significance	4	127706766	127706766	Human		name
155710432	CV1775803	single nucleotide variant	NM_015693.4(INTU):c.1882G>C (p.Val628Leu)	not provided [RCV002296175]	uncertain significance	4	127706580	127706580	Human		name
156188786	CV1882712	single nucleotide variant	NM_015693.4(INTU):c.1323A>C (p.Arg441Ser)	not provided [RCV003083804]	likely benign	4	127687741	127687741	Human		name
156410731	CV1882718	single nucleotide variant	NM_015693.4(INTU):c.1993C>T (p.Arg665Cys)	Inborn genetic diseases [RCV004632180]\|not provided [RCV003072188]	uncertain significance	4	127706691	127706691	Human	1	name
156404197	CV1898155	single nucleotide variant	NM_015693.4(INTU):c.2741C>G (p.Pro914Arg)	not provided [RCV002585354]	uncertain significance	4	127716348	127716348	Human		name
156403179	CV1908282	single nucleotide variant	NM_015693.4(INTU):c.2411C>T (p.Ala804Val)	INTU-related disorder [RCV004756468]\|Inborn genetic diseases [RCV004073394]\|not provided [RCV002585158]	uncertain significance	4	127710954	127710954	Human	2	name , trait , alternate_id
156417279	CV1913306	single nucleotide variant	NM_015693.4(INTU):c.1831G>A (p.Ala611Thr)	Inborn genetic diseases [RCV004068957]\|not provided [RCV002610635]	uncertain significance	4	127706529	127706529	Human	1	name
155940718	CV1913748	single nucleotide variant	NM_015693.4(INTU):c.1626T>G (p.Cys542Trp)	not provided [RCV002615615]	uncertain significance	4	127705650	127705650	Human		name
156049976	CV1914997	single nucleotide variant	NM_015693.4(INTU):c.2111C>T (p.Thr704Ile)	not provided [RCV002620570]	uncertain significance	4	127706809	127706809	Human		name
155956015	CV1915426	single nucleotide variant	NM_015693.4(INTU):c.1001C>T (p.Ser334Phe)	not provided [RCV002616480]	uncertain significance	4	127669064	127669064	Human		name
156418724	CV1918678	single nucleotide variant	NM_015693.4(INTU):c.2201C>T (p.Pro734Leu)	not provided [RCV002611929]	uncertain significance	4	127706899	127706899	Human		name
156058081	CV1930811	single nucleotide variant	NM_015693.4(INTU):c.2167G>A (p.Gly723Arg)	Inborn genetic diseases [RCV004985262]\|not provided [RCV002638184]	uncertain significance	4	127706865	127706865	Human	1	name
156364011	CV1931999	single nucleotide variant	NM_015693.4(INTU):c.2302C>A (p.Pro768Thr)	not provided [RCV002632878]	uncertain significance	4	127708601	127708601	Human		name
156436748	CV1940322	single nucleotide variant	NM_015693.4(INTU):c.2017A>G (p.Thr673Ala)	Inborn genetic diseases [RCV004634211]\|not provided [RCV003106272]	uncertain significance	4	127706715	127706715	Human	1	name
156445177	CV1945175	single nucleotide variant	NM_015693.4(INTU):c.2491C>G (p.Leu831Val)	not provided [RCV003116115]	uncertain significance	4	127711034	127711034	Human		name
156391970	CV1964967	single nucleotide variant	NM_015693.4(INTU):c.1597G>T (p.Asp533Tyr)	Inborn genetic diseases [RCV004064502]\|not provided [RCV002583956]	uncertain significance	4	127705621	127705621	Human	1	name
156254571	CV1981709	single nucleotide variant	NM_015693.4(INTU):c.1298A>T (p.His433Leu)	not provided [RCV002646007]	uncertain significance	4	127687716	127687716	Human		name
156156567	CV1987833	single nucleotide variant	NM_015693.4(INTU):c.2309A>G (p.His770Arg)	not provided [RCV002642252]	uncertain significance	4	127708608	127708608	Human		name
156324400	CV1988878	single nucleotide variant	NM_015693.4(INTU):c.2641G>T (p.Val881Leu)	not provided [RCV002649460]	uncertain significance	4	127714017	127714017	Human		name
156390659	CV1990093	single nucleotide variant	NM_015693.4(INTU):c.2660C>G (p.Pro887Arg)	not provided [RCV002604639]	uncertain significance	4	127714036	127714036	Human		name
156099307	CV2004836	single nucleotide variant	NM_015693.4(INTU):c.1228A>T (p.Thr410Ser)	not provided [RCV002639520]	uncertain significance	4	127684455	127684455	Human		name
156305733	CV2013719	single nucleotide variant	NM_015693.4(INTU):c.1622A>G (p.Tyr541Cys)	not provided [RCV002716269]	uncertain significance	4	127705646	127705646	Human		name
156093081	CV2014109	single nucleotide variant	NM_015693.4(INTU):c.2524A>G (p.Ile842Val)	not provided [RCV002695014]	uncertain significance	4	127711067	127711067	Human		name
156093480	CV2014166	single nucleotide variant	NM_015693.4(INTU):c.2464C>T (p.Gln822Ter)	not provided [RCV002695028]	uncertain significance	4	127711007	127711007	Human		name
155979582	CV2028790	single nucleotide variant	NM_015693.4(INTU):c.1640T>A (p.Leu547Gln)	not provided [RCV002755264]	uncertain significance	4	127705664	127705664	Human		name
155956890	CV2033467	single nucleotide variant	NM_015693.4(INTU):c.1106T>G (p.Leu369Ter)	not provided [RCV002730974]	uncertain significance	4	127674138	127674138	Human		name
155914308	CV2091616	single nucleotide variant	NM_015693.4(INTU):c.1591C>T (p.Pro531Ser)	not provided [RCV002902983]	uncertain significance	4	127705615	127705615	Human		name
156138164	CV2106024	single nucleotide variant	NM_015693.4(INTU):c.1334C>A (p.Pro445His)	not provided [RCV002914803]	benign	4	127687752	127687752	Human		name
156118568	CV2107433	single nucleotide variant	NM_015693.4(INTU):c.1880A>G (p.Gln627Arg)	INTU-related disorder [RCV003961202]\|Inborn genetic diseases [RCV002914067]\|not provided [RCV002914068]	likely benign\|uncertain significance	4	127706578	127706578	Human	2	name , trait , alternate_id
156236477	CV2108868	single nucleotide variant	NM_015693.4(INTU):c.2192A>G (p.His731Arg)	Inborn genetic diseases [RCV002933041]\|not provided [RCV002933040]	uncertain significance	4	127706890	127706890	Human	1	name
156203104	CV2110143	single nucleotide variant	NM_015693.4(INTU):c.2213G>A (p.Arg738Gln)	INTU-related disorder [RCV003906363]\|not provided [RCV002957454]	benign	4	127706911	127706911	Human	1	name , trait , alternate_id
156197926	CV2113785	single nucleotide variant	NM_015693.4(INTU):c.2131T>C (p.Cys711Arg)	INTU-related disorder [RCV003926563]\|not provided [RCV002957276]	benign\|likely benign	4	127706829	127706829	Human	1	name , trait , alternate_id
156214701	CV2114728	single nucleotide variant	NM_015693.4(INTU):c.2512T>C (p.Cys838Arg)	not provided [RCV002932212]	uncertain significance	4	127711055	127711055	Human		name
156223758	CV2115255	single nucleotide variant	NM_015693.4(INTU):c.1844T>A (p.Ile615Asn)	not provided [RCV002932560]	uncertain significance	4	127706542	127706542	Human		name
156129825	CV2125085	single nucleotide variant	NM_015693.4(INTU):c.1684T>C (p.Trp562Arg)	not provided [RCV002953835]	uncertain significance	4	127705708	127705708	Human		name
155944181	CV2130098	single nucleotide variant	NM_015693.4(INTU):c.1165G>A (p.Gly389Ser)	INTU-related disorder [RCV003898650]\|not provided [RCV002971482]	likely benign\|uncertain significance	4	127674197	127674197	Human	1	name , trait , alternate_id
156162623	CV2136907	single nucleotide variant	NM_015693.4(INTU):c.2021C>T (p.Ser674Leu)	not provided [RCV003005124]	uncertain significance	4	127706719	127706719	Human		name
156225833	CV2203083	single nucleotide variant	NM_015693.4(INTU):c.1271A>G (p.Gln424Arg)	Inborn genetic diseases [RCV002644624]	uncertain significance	4	127687689	127687689	Human	1	name
156256884	CV2204540	single nucleotide variant	NM_015693.4(INTU):c.1689A>T (p.Arg563Ser)	Inborn genetic diseases [RCV002668716]	uncertain significance	4	127705713	127705713	Human	1	name
156330892	CV2224334	single nucleotide variant	NM_015693.4(INTU):c.1163T>C (p.Ile388Thr)	Inborn genetic diseases [RCV002717977]\|not provided [RCV004725583]	uncertain significance	4	127674195	127674195	Human	1	name
155933746	CV2228995	single nucleotide variant	NM_015693.4(INTU):c.2699T>C (p.Met900Thr)	Inborn genetic diseases [RCV002729138]\|not provided [RCV003777693]	uncertain significance	4	127714075	127714075	Human	1	name
156045446	CV2234448	single nucleotide variant	NM_015693.4(INTU):c.2283G>T (p.Lys761Asn)	Inborn genetic diseases [RCV002781698]	uncertain significance	4	127708582	127708582	Human	1	name
156162510	CV2246521	single nucleotide variant	NM_015693.4(INTU):c.2567A>C (p.Lys856Thr)	Inborn genetic diseases [RCV002787577]	uncertain significance	4	127713943	127713943	Human	1	name
156100985	CV2260297	single nucleotide variant	NM_015693.4(INTU):c.2793A>C (p.Glu931Asp)	Inborn genetic diseases [RCV002799123]	uncertain significance	4	127716400	127716400	Human	1	name
156335174	CV2272770	single nucleotide variant	NM_015693.4(INTU):c.2588A>G (p.His863Arg)	Inborn genetic diseases [RCV002835664]\|not provided [RCV003730288]	likely benign\|uncertain significance	4	127713964	127713964	Human	1	name
156068338	CV2280659	single nucleotide variant	NM_015693.4(INTU):c.1586A>G (p.His529Arg)	Inborn genetic diseases [RCV002868566]	uncertain significance	4	127705610	127705610	Human	1	name
156271202	CV2286325	single nucleotide variant	NM_015693.4(INTU):c.2641G>C (p.Val881Leu)	Inborn genetic diseases [RCV002832318]	uncertain significance	4	127714017	127714017	Human	1	name
156294441	CV2293190	single nucleotide variant	NM_015693.4(INTU):c.1933C>T (p.Arg645Trp)	Inborn genetic diseases [RCV002879132]	uncertain significance	4	127706631	127706631	Human	1	name
156199085	CV2293752	single nucleotide variant	NM_015693.4(INTU):c.1224C>G (p.Ile408Met)	Inborn genetic diseases [RCV002874711]	uncertain significance	4	127684451	127684451	Human	1	name
156063613	CV2315955	single nucleotide variant	NM_015693.4(INTU):c.2479A>G (p.Ile827Val)	Inborn genetic diseases [RCV002911937]	likely benign	4	127711022	127711022	Human	1	name
156253439	CV2366198	single nucleotide variant	NM_015693.4(INTU):c.2113C>T (p.Arg705Cys)	Inborn genetic diseases [RCV002988114]\|not provided [RCV005099025]	uncertain significance	4	127706811	127706811	Human	1	name
243057773	CV2405486	single nucleotide variant	NM_015693.4(INTU):c.2212C>T (p.Arg738Trp)	not provided [RCV003133707]	uncertain significance	4	127706910	127706910	Human		name
401729836	CV2686965	single nucleotide variant	NM_015693.4(INTU):c.1462A>C (p.Met488Leu)	Inborn genetic diseases [RCV003271076]	uncertain significance	4	127700022	127700022	Human	1	name
401729960	CV2687026	single nucleotide variant	NM_015693.4(INTU):c.1378G>A (p.Asp460Asn)	Inborn genetic diseases [RCV003271137]	uncertain significance	4	127687796	127687796	Human	1	name
405147492	CV2881690	single nucleotide variant	NM_015693.4(INTU):c.2630A>G (p.Lys877Arg)	not provided [RCV003561474]	uncertain significance	4	127714006	127714006	Human		name
405221482	CV2908177	single nucleotide variant	NM_015693.4(INTU):c.2266C>T (p.Leu756Phe)	not provided [RCV003568505]	uncertain significance	4	127706964	127706964	Human		name
402481869	CV2940829	single nucleotide variant	NM_015693.4(INTU):c.1607T>C (p.Ile536Thr)	not provided [RCV003659722]	uncertain significance	4	127705631	127705631	Human		name
405072597	CV2944370	single nucleotide variant	NM_015693.4(INTU):c.1775T>A (p.Leu592Gln)	not provided [RCV003659510]	uncertain significance	4	127705799	127705799	Human		name
405145345	CV2949857	single nucleotide variant	NM_015693.4(INTU):c.2324A>G (p.Lys775Arg)	not provided [RCV003669621]	uncertain significance	4	127708623	127708623	Human		name
405194360	CV2975248	single nucleotide variant	NM_015693.4(INTU):c.1977G>C (p.Trp659Cys)	not provided [RCV003677503]	uncertain significance	4	127706675	127706675	Human		name
405248967	CV2987286	single nucleotide variant	NM_015693.4(INTU):c.2810T>C (p.Phe937Ser)	not provided [RCV003686085]	uncertain significance	4	127716417	127716417	Human		name
402513478	CV2991452	single nucleotide variant	NM_015693.4(INTU):c.2122A>C (p.Ser708Arg)	not provided [RCV003689742]	uncertain significance	4	127706820	127706820	Human		name
405121350	CV2994075	single nucleotide variant	NM_015693.4(INTU):c.1363A>C (p.Ser455Arg)	not provided [RCV003723855]	uncertain significance	4	127687781	127687781	Human		name
404995191	CV2996162	single nucleotide variant	NM_015693.4(INTU):c.1816G>A (p.Glu606Lys)	not provided [RCV003692642]	uncertain significance	4	127706514	127706514	Human		name
402503654	CV3007205	single nucleotide variant	NM_015693.4(INTU):c.1700C>T (p.Pro567Leu)	not provided [RCV003688757]	uncertain significance	4	127705724	127705724	Human		name
402523139	CV3011429	single nucleotide variant	NM_015693.4(INTU):c.1133A>G (p.Tyr378Cys)	not provided [RCV003716586]	uncertain significance	4	127674165	127674165	Human		name
405037597	CV3016967	single nucleotide variant	NM_015693.4(INTU):c.2257G>A (p.Gly753Arg)	not provided [RCV003696069]	uncertain significance	4	127706955	127706955	Human		name
405056748	CV3023396	single nucleotide variant	NM_015693.4(INTU):c.1166G>A (p.Gly389Asp)	not provided [RCV003697392]	uncertain significance	4	127674198	127674198	Human		name
405234370	CV3032445	single nucleotide variant	NM_015693.4(INTU):c.1346A>C (p.His449Pro)	not provided [RCV003712057]	uncertain significance	4	127687764	127687764	Human		name
405219451	CV3034983	single nucleotide variant	NM_015693.4(INTU):c.1715G>A (p.Arg572Gln)	not provided [RCV003709693]	uncertain significance	4	127705739	127705739	Human		name
405083945	CV3043614	single nucleotide variant	NM_015693.4(INTU):c.1027G>A (p.Val343Met)	not provided [RCV003717340]	uncertain significance	4	127669090	127669090	Human		name
405089324	CV3047866	single nucleotide variant	NM_015693.4(INTU):c.2459T>C (p.Val820Ala)	not provided [RCV003717557]	uncertain significance	4	127711002	127711002	Human		name
405137689	CV3048465	single nucleotide variant	NM_015693.4(INTU):c.1994G>A (p.Arg665His)	not provided [RCV003725296]	uncertain significance	4	127706692	127706692	Human		name
405144782	CV3052233	single nucleotide variant	NM_015693.4(INTU):c.1538C>A (p.Thr513Lys)	not provided [RCV003725956]	uncertain significance	4	127704262	127704262	Human		name
405162771	CV3062742	microsatellite	NM_015693.4(INTU):c.69AGA[2] (p.Glu25del)	not provided [RCV003727217]	uncertain significance	4	127633102	127633104	Human		name
405150739	CV3063731	single nucleotide variant	NM_015693.4(INTU):c.1283T>C (p.Val428Ala)	not provided [RCV003726400]	uncertain significance	4	127687701	127687701	Human		name
405148010	CV3067464	single nucleotide variant	NM_015693.4(INTU):c.1196G>A (p.Arg399His)	not provided [RCV003726206]	uncertain significance	4	127684423	127684423	Human		name
405227015	CV3069269	single nucleotide variant	NM_015693.4(INTU):c.1453G>A (p.Glu485Lys)	not provided [RCV003734123]	likely benign	4	127700013	127700013	Human		name
405230427	CV3070199	single nucleotide variant	NM_015693.4(INTU):c.2099A>G (p.Tyr700Cys)	not provided [RCV003734800]	uncertain significance	4	127706797	127706797	Human		name
405235092	CV3071303	single nucleotide variant	NM_015693.4(INTU):c.1796A>G (p.Tyr599Cys)	not provided [RCV003735744]	uncertain significance	4	127706494	127706494	Human		name
405024596	CV3075904	single nucleotide variant	NM_015693.4(INTU):c.1576A>T (p.Ile526Leu)	not provided [RCV003738685]	uncertain significance	4	127705600	127705600	Human		name
405029461	CV3080556	single nucleotide variant	NM_015693.4(INTU):c.1360C>T (p.Pro454Ser)	not provided [RCV003739032]	uncertain significance	4	127687778	127687778	Human		name
405173600	CV3122868	single nucleotide variant	NM_015693.4(INTU):c.2045G>T (p.Gly682Val)	not provided [RCV003819266]	uncertain significance	4	127706743	127706743	Human		name
405156797	CV3152540	single nucleotide variant	NM_015693.4(INTU):c.1483G>A (p.Ala495Thr)	not provided [RCV003840467]	uncertain significance	4	127700043	127700043	Human		name
405185986	CV3156051	single nucleotide variant	NM_015693.4(INTU):c.1904T>C (p.Leu635Pro)	not provided [RCV003859125]	uncertain significance	4	127706602	127706602	Human		name
405130619	CV3163640	single nucleotide variant	NM_015693.4(INTU):c.1600G>A (p.Asp534Asn)	not provided [RCV003854628]	uncertain significance	4	127705624	127705624	Human		name
405085017	CV3167143	single nucleotide variant	NM_015693.4(INTU):c.2771C>T (p.Ser924Leu)	not provided [RCV003851722]	uncertain significance	4	127716378	127716378	Human		name
405240834	CV3176817	single nucleotide variant	NM_015693.4(INTU):c.1085T>C (p.Val362Ala)	not provided [RCV003867255]	uncertain significance	4	127669148	127669148	Human		name
402474977	CV3182719	single nucleotide variant	NM_015693.4(INTU):c.2026A>G (p.Ile676Val)	not provided [RCV003874962]	uncertain significance	4	127706724	127706724	Human		name
405793872	CV3264393	single nucleotide variant	NM_015693.4(INTU):c.1207A>G (p.Met403Val)	Inborn genetic diseases [RCV004400670]	uncertain significance	4	127684434	127684434	Human	1	name
405793875	CV3264394	single nucleotide variant	NM_015693.4(INTU):c.1273A>G (p.Ile425Val)	Inborn genetic diseases [RCV004400671]	likely benign	4	127687691	127687691	Human	1	name
405793878	CV3264395	single nucleotide variant	NM_015693.4(INTU):c.1364G>T (p.Ser455Ile)	Inborn genetic diseases [RCV004400672]	uncertain significance	4	127687782	127687782	Human	1	name
405793881	CV3264396	single nucleotide variant	NM_015693.4(INTU):c.1919C>G (p.Ser640Cys)	Inborn genetic diseases [RCV004400673]	uncertain significance	4	127706617	127706617	Human	1	name
405793892	CV3264399	single nucleotide variant	NM_015693.4(INTU):c.2739A>T (p.Lys913Asn)	Inborn genetic diseases [RCV004400676]	uncertain significance	4	127716346	127716346	Human	1	name
407522945	CV3455089	single nucleotide variant	NM_015693.4(INTU):c.1318C>G (p.Gln440Glu)	Inborn genetic diseases [RCV004630891]\|not provided [RCV005059673]	uncertain significance	4	127687736	127687736	Human	1	name
407522951	CV3455092	single nucleotide variant	NM_015693.4(INTU):c.2676T>A (p.Asp892Glu)	Inborn genetic diseases [RCV004630894]	uncertain significance	4	127714052	127714052	Human	1	name
407522953	CV3455093	single nucleotide variant	NM_015693.4(INTU):c.2749C>G (p.Leu917Val)	Inborn genetic diseases [RCV004630895]	uncertain significance	4	127716356	127716356	Human	1	name
407522955	CV3455094	single nucleotide variant	NM_015693.4(INTU):c.1306A>T (p.Asn436Tyr)	Inborn genetic diseases [RCV004630896]	uncertain significance	4	127687724	127687724	Human	1	name
597700458	CV3680252	single nucleotide variant	NM_015693.4(INTU):c.2696T>C (p.Val899Ala)	Inborn genetic diseases [RCV004987914]\|not provided [RCV005061771]	uncertain significance	4	127714072	127714072	Human	1	name
597700479	CV3680256	single nucleotide variant	NM_015693.4(INTU):c.1252T>A (p.Leu418Ile)	Inborn genetic diseases [RCV004987917]	uncertain significance	4	127684479	127684479	Human	1	name
597700487	CV3680257	single nucleotide variant	NM_015693.4(INTU):c.1255G>C (p.Asp419His)	Inborn genetic diseases [RCV004987918]	uncertain significance	4	127684482	127684482	Human	1	name
597700494	CV3680258	single nucleotide variant	NM_015693.4(INTU):c.2721A>T (p.Arg907Ser)	Inborn genetic diseases [RCV004987919]	uncertain significance	4	127716328	127716328	Human	1	name
597846667	CV3736635	single nucleotide variant	NM_015693.4(INTU):c.1517A>C (p.Tyr506Ser)	not provided [RCV005065794]	uncertain significance	4	127704241	127704241	Human		name
597839149	CV3736978	single nucleotide variant	NM_015693.4(INTU):c.1312T>C (p.Phe438Leu)	not provided [RCV005064458]	uncertain significance	4	127687730	127687730	Human		name
597890540	CV3749299	single nucleotide variant	NM_015693.4(INTU):c.1648T>G (p.Leu550Val)	not provided [RCV005071083]	uncertain significance	4	127705672	127705672	Human		name
597910304	CV3749608	single nucleotide variant	NM_015693.4(INTU):c.2375C>T (p.Thr792Ile)	not provided [RCV005073456]	uncertain significance	4	127710918	127710918	Human		name
597882674	CV3763987	single nucleotide variant	NM_015693.4(INTU):c.1318C>T (p.Gln440Ter)	not provided [RCV005109388]	uncertain significance	4	127687736	127687736	Human		name
597885640	CV3777292	single nucleotide variant	NM_015693.4(INTU):c.2449C>G (p.Leu817Val)	not provided [RCV005124891]	uncertain significance	4	127710992	127710992	Human		name
597975318	CV3799067	single nucleotide variant	NM_015693.4(INTU):c.2362A>T (p.Thr788Ser)	not provided [RCV005144463]	uncertain significance	4	127708661	127708661	Human		name
597884212	CV3799575	single nucleotide variant	NM_015693.4(INTU):c.1522A>G (p.Met508Val)	not provided [RCV005150242]	uncertain significance	4	127704246	127704246	Human		name
597974215	CV3801831	single nucleotide variant	NM_015693.4(INTU):c.1633T>A (p.Tyr545Asn)	not provided [RCV005143820]	uncertain significance	4	127705657	127705657	Human		name
597959075	CV3815025	single nucleotide variant	NM_015693.4(INTU):c.2349A>C (p.Leu783Phe)	not provided [RCV005163151]	uncertain significance	4	127708648	127708648	Human		name
597959549	CV3815124	single nucleotide variant	NM_015693.4(INTU):c.1730C>G (p.Ser577Ter)	not provided [RCV005163251]	uncertain significance	4	127705754	127705754	Human		name
597969602	CV3821572	single nucleotide variant	NM_015693.4(INTU):c.2045G>C (p.Gly682Ala)	not provided [RCV005166214]	uncertain significance	4	127706743	127706743	Human		name
597912787	CV3834304	single nucleotide variant	NM_015693.4(INTU):c.1627C>T (p.Arg543Cys)	not provided [RCV005183066]	uncertain significance	4	127705651	127705651	Human		name
597963070	CV3841365	single nucleotide variant	NM_015693.4(INTU):c.2346A>T (p.Glu782Asp)	not provided [RCV005193468]	uncertain significance	4	127708645	127708645	Human		name
597952715	CV3843770	single nucleotide variant	NM_015693.4(INTU):c.2302C>T (p.Pro768Ser)	not provided [RCV005190632]	uncertain significance	4	127708601	127708601	Human		name
597950764	CV3847044	single nucleotide variant	NM_015693.4(INTU):c.2651A>G (p.Glu884Gly)	not provided [RCV005190216]	uncertain significance	4	127714027	127714027	Human		name
597873490	CV3849876	single nucleotide variant	NM_015693.4(INTU):c.1712T>G (p.Leu571Arg)	not provided [RCV005197865]	uncertain significance	4	127705736	127705736	Human		name
597938938	CV3852938	single nucleotide variant	NM_015693.4(INTU):c.1579T>A (p.Cys527Ser)	not provided [RCV005187339]	likely benign	4	127705603	127705603	Human		name
597864910	CV3861130	single nucleotide variant	NM_015693.4(INTU):c.2586C>G (p.Asp862Glu)	not provided [RCV005196478]	uncertain significance	4	127713962	127713962	Human		name
598193785	CV3968924	single nucleotide variant	NM_015693.4(INTU):c.1048C>T (p.Leu350Phe)	Inborn genetic diseases [RCV005354721]	uncertain significance	4	127669111	127669111	Human	1	name
598193793	CV3968926	single nucleotide variant	NM_015693.4(INTU):c.1162A>T (p.Ile388Phe)	Inborn genetic diseases [RCV005354723]	uncertain significance	4	127674194	127674194	Human	1	name
598193798	CV3968927	single nucleotide variant	NM_015693.4(INTU):c.2195C>A (p.Thr732Asn)	Inborn genetic diseases [RCV005354724]	uncertain significance	4	127706893	127706893	Human	1	name
598193802	CV3968928	single nucleotide variant	NM_015693.4(INTU):c.2123G>A (p.Ser708Asn)	Inborn genetic diseases [RCV005354725]	uncertain significance	4	127706821	127706821	Human	1	name
13467206	CV440074	single nucleotide variant	NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)	Jeune thoracic dystrophy [RCV000515956]	conflicting interpretations of pathogenicity\|uncertain significance	4	127687706	127687706	Human	1	name
13503754	CV440075	single nucleotide variant	NM_015693.4(INTU):c.1628G>A (p.Arg543His)	Jeune thoracic dystrophy [RCV000515931]	conflicting interpretations of pathogenicity\|uncertain significance	4	127705652	127705652	Human	1	name
13521560	CV496106	single nucleotide variant	NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	Short rib-polydactyly syndrome [RCV000851203]\|Short-rib thoracic dysplasia 20 with polydactyly [RCV000599556]	pathogenic\|likely pathogenic	4	127669126	127669126	Human	2	name
13520708	CV496107	single nucleotide variant	NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	Short rib-polydactyly syndrome [RCV000851204]\|Short-rib thoracic dysplasia 20 with polydactyly [RCV000598855]	pathogenic\|likely pathogenic	4	127700059	127700059	Human	2	name
13520758	CV496110	single nucleotide variant	NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)	INTU-related disorder [RCV003935632]\|Nephronophthisis [RCV000851202]\|not provided [RCV000598896]\|not specified [RCV002248815]	likely pathogenic\|benign\|likely benign\|uncertain significance	4	127687772	127687772	Human	6	name , trait , alternate_id
151844923	CV1420278	duplication	NM_015693.4(INTU):c.2708_2714dup (p.Arg907fs)	not provided [RCV001978153]	uncertain significance	4	127714082	127714083	Human		name
153301367	CV1686905	microsatellite	NM_015693.4(INTU):c.2358_2359dup (p.Asn787fs)	Short-rib thoracic dysplasia 20 with polydactyly [RCV002262193]	pathogenic	4	127708651	127708652	Human		name
156232386	CV2024528	deletion	NM_015693.4(INTU):c.1895_1896del (p.Leu632fs)	not provided [RCV002745356]	uncertain significance	4	127706593	127706594	Human		name
405212490	CV3078049	deletion	NM_015693.4(INTU):c.1956_1957del (p.Cys653fs)	not provided [RCV003732205]	uncertain significance	4	127706654	127706655	Human		name
597861516	CV3770234	deletion	NM_015693.4(INTU):c.1196_1198del (p.Arg399del)	not provided [RCV005106087]	uncertain significance	4	127684421	127684423	Human		name
597830744	CV3743283	indel	NM_015693.4(INTU):c.470_471delinsAG (p.Arg157Gln)	not provided [RCV005062291]	uncertain significance	4	127643844	127643845	Human		name
155984542	CV2153734	indel	NM_015693.4(INTU):c.2464_2465delinsAG (p.Gln822Arg)	not provided [RCV003016534]	uncertain significance	4	127711007	127711008	Human		name
408383413	CV3503915	duplication	NM_015693.4(INTU):c.1428_1433dup (p.Leu478_Pro479insThrLeu)	INTU-related disorder [RCV004730615]	uncertain significance	4	127687843	127687844	Human		name , trait , alternate_id
402483951	CV3036747	indel	NM_015693.4(INTU):c.2247_2248delinsCA (p.Leu749_Glu750delinsPheLys)	not provided [RCV003713121]	uncertain significance	4	127706945	127706946	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message