Pax9 Variant Search Result - Rat Genome Database

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203 records found for search term Pax9

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8563880	CV28819	insertion	PAX9, 1-BP INS, 190G	Tooth agenesis, selective, 3 [RCV000014790]	pathogenic				Human	1	name
11606978	CV320515	single nucleotide variant	NM_006194.4(PAX9):c.-719C>T	Tooth agenesis, selective, 3 [RCV000337951]	uncertain significance	14	36657575	36657575	Human	1	name
11612067	CV320518	single nucleotide variant	NM_006194.4(PAX9):c.-656C>G	Tooth agenesis, selective, 3 [RCV000403117]	likely benign\|uncertain significance	14	36657638	36657638	Human	1	name
11612113	CV320519	single nucleotide variant	NM_006194.4(PAX9):c.-488C>T	Tooth agenesis, selective, 3 [RCV000403919]	uncertain significance	14	36657806	36657806	Human	1	name
11620266	CV335880	single nucleotide variant	NM_006194.4(PAX9):c.-553C>A	Tooth agenesis, selective, 3 [RCV000334673]	uncertain significance	14	36657741	36657741	Human	1	name
11660219	CV335898	single nucleotide variant	NM_006194.4(PAX9):c.-244G>T	Tooth agenesis, selective, 3 [RCV000364983]	uncertain significance	14	36661846	36661846	Human	1	name
11614741	CV337831	duplication	NM_006194.4(PAX9):c.-626dup	Selective tooth agenesis [RCV000279592]	likely benign	14	36657666	36657667	Human	2	name
11617436	CV337835	single nucleotide variant	NM_006194.4(PAX9):c.-455C>G	Tooth agenesis, selective, 3 [RCV000304283]\|not provided [RCV004714817]	benign\|likely benign	14	36657839	36657839	Human	1	name
11663662	CV337837	single nucleotide variant	NM_006194.4(PAX9):c.-338C>T	Tooth agenesis, selective, 3 [RCV000397981]	uncertain significance	14	36661752	36661752	Human	1	name
11618088	CV337838	single nucleotide variant	NM_006194.4(PAX9):c.-321C>A	Tooth agenesis, selective, 3 [RCV000310276]	uncertain significance	14	36661769	36661769	Human	1	name
28911933	CV871851	single nucleotide variant	NM_006194.4(PAX9):c.-644G>A	Tooth agenesis, selective, 3 [RCV001111370]	uncertain significance	14	36657650	36657650	Human	1	name
11647192	CV337844	single nucleotide variant	NM_001372076.1(PAX9):c.-65G>A	Tooth agenesis, selective, 3 [RCV000274984]	uncertain significance	14	36662025	36662025	Human	1	name
28872921	CV871853	single nucleotide variant	NM_001372076.1(PAX9):c.-67A>G	Tooth agenesis, selective, 3 [RCV001114760]	uncertain significance	14	36662023	36662023	Human	1	name
28911999	CV871859	single nucleotide variant	NM_001372076.1(PAX9):c.*12G>T	Tooth agenesis, selective, 3 [RCV001111469]	likely benign	14	36676464	36676464	Human	1	name
28912000	CV871860	single nucleotide variant	NM_001372076.1(PAX9):c.*59C>G	Tooth agenesis, selective, 3 [RCV001111470]	uncertain significance	14	36676511	36676511	Human	1	name
150508942	CV1214173	single nucleotide variant	NM_001372076.1(PAX9):c.5-54A>G	not provided [RCV001596694]	benign	14	36662843	36662843	Human		name
150486838	CV1225808	single nucleotide variant	NM_001372076.1(PAX9):c.5-82G>A	not provided [RCV001617969]	benign	14	36662815	36662815	Human		name
150503744	CV1285818	single nucleotide variant	NM_001372076.1(PAX9):c.5-41A>G	not provided [RCV001719241]	benign	14	36662856	36662856	Human		name
405258937	CV3197898	single nucleotide variant	NM_001372076.1(PAX9):c.4+10G>A	PAX9-related disorder [RCV003893821]	likely benign	14	36662103	36662103	Human		name , trait , alternate_id
11599900	CV320521	single nucleotide variant	NM_001372076.1(PAX9):c.-218G>A	Tooth agenesis, selective, 3 [RCV000269223]	uncertain significance	14	36661872	36661872	Human	1	name
11605484	CV320534	single nucleotide variant	NM_001372076.1(PAX9):c.*511T>C	Tooth agenesis, selective, 3 [RCV000320126]	uncertain significance	14	36676963	36676963	Human	1	name
11656458	CV329297	single nucleotide variant	NM_001372076.1(PAX9):c.-186C>A	Tooth agenesis, selective, 3 [RCV000333609]	uncertain significance	14	36661904	36661904	Human	1	name
11625789	CV329328	single nucleotide variant	NM_001372076.1(PAX9):c.*206T>C	Tooth agenesis, selective, 3 [RCV000402926]\|not provided [RCV001598651]	benign\|likely benign	14	36676658	36676658	Human	1	name
11617787	CV329335	single nucleotide variant	NM_001372076.1(PAX9):c.*231T>G	Tooth agenesis, selective, 3 [RCV000307604]	uncertain significance	14	36676683	36676683	Human	1	name
11622647	CV329337	single nucleotide variant	NM_001372076.1(PAX9):c.*259C>T	Tooth agenesis, selective, 3 [RCV000363043]\|not provided [RCV001642972]	benign\|likely benign	14	36676711	36676711	Human	1	name
11612629	CV329338	single nucleotide variant	NM_001372076.1(PAX9):c.*554G>C	Tooth agenesis, selective, 3 [RCV000260980]\|not provided [RCV004714818]	benign\|likely benign	14	36677006	36677006	Human	1	name
11613308	CV329342	single nucleotide variant	NM_001372076.1(PAX9):c.*902G>A	Tooth agenesis, selective, 3 [RCV000267347]	likely benign\|uncertain significance	14	36677354	36677354	Human	1	name
11659572	CV335881	single nucleotide variant	NM_006194.4(PAX9):c.-394+15G>C	Tooth agenesis, selective, 3 [RCV000359158]	uncertain significance	14	36657915	36657915	Human	1	name
11614134	CV335917	single nucleotide variant	NM_001372076.1(PAX9):c.*429T>C	Tooth agenesis, selective, 3 [RCV000274370]\|not provided [RCV004715847]	benign\|likely benign	14	36676881	36676881	Human	1	name
11624043	CV335921	single nucleotide variant	NM_001372076.1(PAX9):c.*901C>T	Tooth agenesis, selective, 3 [RCV000380621]	benign\|likely benign	14	36677353	36677353	Human	1	name
11660730	CV337839	single nucleotide variant	NM_001372076.1(PAX9):c.-119A>T	Tooth agenesis, selective, 3 [RCV000369583]	uncertain significance	14	36661971	36661971	Human	1	name
11625298	CV337871	single nucleotide variant	NM_001372076.1(PAX9):c.*263A>G	Tooth agenesis, selective, 3 [RCV000396973]	uncertain significance	14	36676715	36676715	Human	1	name
11653988	CV337877	single nucleotide variant	NM_001372076.1(PAX9):c.*328T>A	Tooth agenesis, selective, 3 [RCV000314250]	uncertain significance	14	36676780	36676780	Human	1	name
11618690	CV337880	single nucleotide variant	NM_001372076.1(PAX9):c.*818C>T	Tooth agenesis, selective, 3 [RCV000316735]\|not provided [RCV004714819]	benign\|likely benign	14	36677270	36677270	Human	1	name
28870041	CV871852	single nucleotide variant	NM_001372076.1(PAX9):c.-175G>C	Tooth agenesis, selective, 3 [RCV001113380]	likely benign	14	36661915	36661915	Human	1	name
28912001	CV871861	single nucleotide variant	NM_001372076.1(PAX9):c.*257G>A	Tooth agenesis, selective, 3 [RCV001111471]	uncertain significance	14	36676709	36676709	Human	1	name
28870247	CV871862	single nucleotide variant	NM_001372076.1(PAX9):c.*288C>G	Tooth agenesis, selective, 3 [RCV001113475]	uncertain significance	14	36676740	36676740	Human	1	name
28870249	CV871863	single nucleotide variant	NM_001372076.1(PAX9):c.*506A>G	Tooth agenesis, selective, 3 [RCV001113476]	uncertain significance	14	36676958	36676958	Human	1	name
28873155	CV871864	single nucleotide variant	NM_001372076.1(PAX9):c.*640T>G	Tooth agenesis, selective, 3 [RCV001114873]	uncertain significance	14	36677092	36677092	Human	1	name
28873158	CV871865	single nucleotide variant	NM_001372076.1(PAX9):c.*663C>T	Tooth agenesis, selective, 3 [RCV001114874]	uncertain significance	14	36677115	36677115	Human	1	name
28873160	CV871866	single nucleotide variant	NM_001372076.1(PAX9):c.*775C>T	Tooth agenesis, selective, 3 [RCV001114875]	uncertain significance	14	36677227	36677227	Human	1	name
28873163	CV871867	single nucleotide variant	NM_001372076.1(PAX9):c.*825T>G	Tooth agenesis, selective, 3 [RCV001114876]	uncertain significance	14	36677277	36677277	Human	1	name
150433599	CV1230579	single nucleotide variant	NM_006194.4(PAX9):c.-393-738T>C	not provided [RCV001643524]	benign	14	36660959	36660959	Human		name
150453325	CV1231811	single nucleotide variant	NM_001372076.1(PAX9):c.5-109G>C	not provided [RCV001648118]	benign	14	36662788	36662788	Human		name
150462057	CV1234857	single nucleotide variant	NM_006194.4(PAX9):c.-393-909C>T	not provided [RCV001649439]	benign	14	36660788	36660788	Human		name
150500092	CV1256031	single nucleotide variant	NM_006194.4(PAX9):c.-393-972C>G	not provided [RCV001676654]	benign	14	36660725	36660725	Human		name
150497846	CV1281586	single nucleotide variant	NM_006194.4(PAX9):c.-393-157C>T	not provided [RCV001717916]	benign	14	36661540	36661540	Human		name
405142428	CV2976596	single nucleotide variant	NM_001372076.1(PAX9):c.771+3G>T	Hypodontia [RCV003755459]	uncertain significance	14	36666604	36666604	Human	3	name
405144372	CV2988204	single nucleotide variant	NM_001372076.1(PAX9):c.772-2A>G	Hypodontia [RCV003755518]	uncertain significance	14	36676196	36676196	Human	3	name
405273423	CV3202546	duplication	NM_006194.4(PAX9):c.-393-874dup	PAX9-related disorder [RCV003909805]	likely benign	14	36660817	36660818	Human		name , trait , alternate_id
11655028	CV320539	single nucleotide variant	NM_001372076.1(PAX9):c.*1051T>G	Selective tooth agenesis [RCV000322470]	uncertain significance	14	36677503	36677503	Human	2	name
28873166	CV871868	single nucleotide variant	NM_001372076.1(PAX9):c.*1066A>C	Tooth agenesis, selective, 3 [RCV001114877]	uncertain significance	14	36677518	36677518	Human	1	name
150493373	CV1238657	single nucleotide variant	NM_001372076.1(PAX9):c.632-62G>C	not provided [RCV001655201]	benign	14	36666400	36666400	Human		name
150455186	CV1266146	single nucleotide variant	NM_006194.4(PAX9):c.-393-1028A>G	not provided [RCV001692723]	benign	14	36660669	36660669	Human		name
156437750	CV1947765	single nucleotide variant	NM_001372076.1(PAX9):c.771+20G>T	Hypodontia [RCV003107292]	likely benign	14	36666621	36666621	Human	3	name
150437308	CV227635	single nucleotide variant	NM_001372076.1(PAX9):c.631+41G>A	Hypodontia [RCV002054363]\|not provided [RCV001689743]	benign	14	36663564	36663564	Human	7	name
597948901	CV3848773	single nucleotide variant	NM_001372076.1(PAX9):c.631+14G>A	Hypodontia [RCV005189710]	benign	14	36663537	36663537	Human	3	name
150439710	CV1247757	single nucleotide variant	NM_001372076.1(PAX9):c.631+175A>T	not provided [RCV001666124]	benign	14	36663698	36663698	Human		name
150489986	CV1267534	single nucleotide variant	NM_001372076.1(PAX9):c.771+304A>G	not provided [RCV001687558]	benign	14	36666905	36666905	Human		name
11609475	CV320533	deletion	NM_001372076.1(PAX9):c.344_345del	Selective tooth agenesis [RCV000368895]	uncertain significance	14	36676796	36676797	Human	2	name
11659269	CV320538	deletion	NM_001372076.1(PAX9):c.518_521del	Selective tooth agenesis [RCV000356261]	uncertain significance	14	36676967	36676970	Human	2	name
11619842	CV335903	single nucleotide variant	NM_001372076.1(PAX9):c.6G>A (p.Glu2=)	Tooth agenesis, selective, 3 [RCV000329964]	uncertain significance	14	36662898	36662898	Human	1	name
127316906	CV1157247	single nucleotide variant	NM_001372076.1(PAX9):c.30G>A (p.Gln10=)	Hypodontia [RCV001520769]	benign	14	36662922	36662922	Human	3	name
8563878	CV28816	single nucleotide variant	NM_001372076.1(PAX9):c.1A>G (p.Met1Val)	Tooth agenesis, selective, 3 [RCV000014787]	pathogenic	14	36662090	36662090	Human	1	name
597973014	CV3820049	single nucleotide variant	NM_001372076.1(PAX9):c.1A>C (p.Met1Leu)	Hypodontia [RCV005167763]	pathogenic	14	36662090	36662090	Human	3	name
597953195	CV3843928	single nucleotide variant	NM_001372076.1(PAX9):c.45C>T (p.Phe15=)	Hypodontia [RCV005190790]	likely benign	14	36662937	36662937	Human	3	name
14716563	CV642356	single nucleotide variant	NM_001372076.1(PAX9):c.2T>A (p.Met1Lys)	Hypodontia [RCV000804216]	pathogenic\|likely pathogenic	14	36662091	36662091	Human	3	name
150549902	CV1299938	single nucleotide variant	NM_001372076.1(PAX9):c.25A>G (p.Asn9Asp)	not provided [RCV001765408]	uncertain significance	14	36662917	36662917	Human		name
156074131	CV2263958	single nucleotide variant	NM_001372076.1(PAX9):c.22G>A (p.Val8Met)	Inborn genetic diseases [RCV002823616]	uncertain significance	14	36662914	36662914	Human	1	name
405050937	CV2876931	single nucleotide variant	NM_001372076.1(PAX9):c.156C>T (p.Cys52=)	Hypodontia [RCV003592844]	likely benign	14	36663048	36663048	Human	3	name
11610004	CV320522	single nucleotide variant	NM_001372076.1(PAX9):c.150C>T (p.His50=)	Tooth agenesis, selective, 3 [RCV000375288]	uncertain significance	14	36663042	36663042	Human	1	name
597918944	CV3842536	single nucleotide variant	NM_001372076.1(PAX9):c.123C>T (p.Asp41=)	Hypodontia [RCV005184021]	likely benign	14	36663015	36663015	Human	3	name
28872926	CV871854	single nucleotide variant	NM_001372076.1(PAX9):c.192C>T (p.Gly64=)	Hypodontia [RCV005093520]\|PAX9-related disorder [RCV003963056]\|Tooth agenesis, selective, 3 [RCV001114761]	likely benign\|uncertain significance	14	36663084	36663084	Human	5	name , trait , alternate_id
126909848	CV1052989	deletion	NM_001372076.1(PAX9):c.243del (p.Thr82fs)	Oligodontia [RCV001374731]	pathogenic	14	36663131	36663131	Human	2	name
156006476	CV2054346	single nucleotide variant	NM_001372076.1(PAX9):c.77G>A (p.Arg26Gln)	Hypodontia [RCV002819903]	uncertain significance	14	36662969	36662969	Human	3	name
156072452	CV2065826	single nucleotide variant	NM_001372076.1(PAX9):c.438C>T (p.His146=)	Hypodontia [RCV002847115]	likely benign	14	36663330	36663330	Human	3	name
156300198	CV2146084	deletion	NM_001372076.1(PAX9):c.285del (p.Gly96fs)	Hypodontia [RCV003010349]	pathogenic	14	36663174	36663174	Human	3	name
401797677	CV2741037	single nucleotide variant	NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys)	not provided [RCV003322201]	uncertain significance	14	36662920	36662920	Human		name
401797100	CV2741929	deletion	NM_001372076.1(PAX9):c.191del (p.Gly64fs)	Tooth agenesis, selective, 3 [RCV003324108]	likely pathogenic	14	36663081	36663081	Human	1	name
401905926	CV2804612	deletion	NM_001372076.1(PAX9):c.139del (p.Arg47fs)	PAX9-related disorder [RCV003420908]	pathogenic	14	36663031	36663031	Human		name , trait , alternate_id
405867705	CV2839328	single nucleotide variant	NM_001372076.1(PAX9):c.771G>A (p.Gln257=)	Oligodontia [RCV004573144]	pathogenic	14	36666601	36666601	Human	2	name
8563874	CV28806	duplication	NM_001372076.1(PAX9):c.218dup (p.Ser74fs)	Tooth agenesis, selective, 3 [RCV000014777]	pathogenic	14	36663105	36663106	Human	1	name
8599552	CV28810	single nucleotide variant	NM_001372076.1(PAX9):c.62T>C (p.Leu21Pro)	Tooth agenesis, selective, 3 [RCV000014781]	pathogenic	14	36662954	36662954	Human	1	name
8599553	CV28812	single nucleotide variant	NM_001372076.1(PAX9):c.83G>C (p.Arg28Pro)	Tooth agenesis, selective, 3 [RCV000014783]	pathogenic	14	36662975	36662975	Human	1	name
8599554	CV28813	single nucleotide variant	NM_001372076.1(PAX9):c.76C>T (p.Arg26Trp)	Hypodontia [RCV003591632]\|Tooth agenesis, selective, 3 [RCV000014784]	pathogenic	14	36662968	36662968	Human	5	name
405054586	CV2883200	single nucleotide variant	NM_001372076.1(PAX9):c.606G>A (p.Leu202=)	Hypodontia [RCV003593180]	likely benign	14	36663498	36663498	Human	3	name
405200365	CV2895625	single nucleotide variant	NM_001372076.1(PAX9):c.480C>T (p.Tyr160=)	Hypodontia [RCV003591141]	likely benign	14	36663372	36663372	Human	3	name
405149278	CV3050193	single nucleotide variant	NM_001372076.1(PAX9):c.954G>A (p.Pro318=)	Hypodontia [RCV003756165]	likely benign	14	36676380	36676380	Human	3	name
404986910	CV3179701	single nucleotide variant	NM_001372076.1(PAX9):c.393C>T (p.Ile131=)	Hypodontia [RCV003881178]	likely benign	14	36663285	36663285	Human	3	name
405286464	CV3192845	single nucleotide variant	NM_001372076.1(PAX9):c.504G>A (p.Ala168=)	PAX9-related disorder [RCV003981568]	likely benign	14	36663396	36663396	Human		name , trait , alternate_id
11609692	CV320523	single nucleotide variant	NM_001372076.1(PAX9):c.516G>A (p.Lys172=)	Hypodontia [RCV000545209]\|Tooth agenesis, selective, 3 [RCV000371605]\|not provided [RCV002292520]	benign\|likely benign	14	36663408	36663408	Human	5	name
11626044	CV329324	single nucleotide variant	NM_001372076.1(PAX9):c.717C>T (p.His239=)	Hypodontia [RCV001521380]\|Tooth agenesis, selective, 3 [RCV000611289]\|not provided [RCV001723896]	benign\|likely benign	14	36666547	36666547	Human	5	name
408379969	CV3509050	single nucleotide variant	NM_001372076.1(PAX9):c.720G>A (p.Ala240=)	PAX9-related disorder [RCV004753847]	likely benign	14	36666550	36666550	Human		name , trait , alternate_id
13674040	CV362221	single nucleotide variant	NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu)	Tooth agenesis, selective, 3 [RCV000656432]	pathogenic	14	36662951	36662951	Human	1	name
597688976	CV3710780	single nucleotide variant	NM_001372076.1(PAX9):c.95T>C (p.Leu32Pro)	Hypodontia [RCV005112584]\|Tooth agenesis, selective, 3 [RCV005007184]	uncertain significance	14	36662987	36662987	Human	5	name
597858121	CV3755802	single nucleotide variant	NM_001372076.1(PAX9):c.684G>A (p.Leu228=)	Hypodontia [RCV005088953]	likely benign	14	36666514	36666514	Human	3	name
597904477	CV3846149	single nucleotide variant	NM_001372076.1(PAX9):c.40G>C (p.Val14Leu)	Hypodontia [RCV005181771]	uncertain significance	14	36662932	36662932	Human	3	name
13496167	CV464201	single nucleotide variant	NM_001372076.1(PAX9):c.609C>T (p.Gly203=)	Hypodontia [RCV001517512]\|PAX9-related disorder [RCV003925585]\|Tooth agenesis, selective, 3 [RCV001109130]\|not provided [RCV000560171]	benign\|likely benign\|uncertain significance	14	36663501	36663501	Human	5	name , trait , alternate_id
14702733	CV653888	single nucleotide variant	NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys)	Tooth agenesis, selective, 3 [RCV000824856]	likely pathogenic	14	36662943	36662943	Human	1	name
15122725	CV754034	single nucleotide variant	NM_001372076.1(PAX9):c.774A>T (p.Ala258=)	Hypodontia [RCV000918697]	likely benign	14	36676200	36676200	Human	3	name
28910384	CV871856	single nucleotide variant	NM_001372076.1(PAX9):c.600C>T (p.Asp200=)	Tooth agenesis, selective, 3 [RCV001109129]	uncertain significance	14	36663492	36663492	Human	1	name
126909845	CV1052987	single nucleotide variant	NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu)	Oligodontia [RCV001374729]	pathogenic	14	36663038	36663038	Human	2	name
126909846	CV1052988	single nucleotide variant	NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro)	Oligodontia [RCV001374730]	pathogenic	14	36663032	36663032	Human	2	name
127265634	CV1063087	deletion	NM_001372076.1(PAX9):c.608del (p.Gly203fs)	Hypodontia [RCV001388504]\|PAX9-related disorder [RCV003405637]	pathogenic\|likely pathogenic	14	36663498	36663498	Human	4	name , trait , alternate_id
127239472	CV1108755	single nucleotide variant	NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)	Oligodontia [RCV001449584]	pathogenic	14	36663044	36663044	Human	2	name
150520647	CV1290547	single nucleotide variant	NM_001372076.1(PAX9):c.218G>T (p.Gly73Val)	not provided [RCV001732238]	uncertain significance	14	36663110	36663110	Human		name
151876141	CV1466950	single nucleotide variant	NM_001372076.1(PAX9):c.184G>A (p.Glu62Lys)	Hypodontia [RCV001885882]	uncertain significance	14	36663076	36663076	Human	3	name
153301416	CV1685994	deletion	NM_001372076.1(PAX9):c.354del (p.Ser119fs)	Tooth agenesis, selective, 3 [RCV002260955]	pathogenic	14	36663244	36663244	Human	1	name
153301418	CV1685995	duplication	NM_001372076.1(PAX9):c.648dup (p.Tyr217fs)	Hypodontia [RCV005095916]\|Tooth agenesis, selective, 3 [RCV002260956]	pathogenic	14	36666473	36666474	Human	5	name
153301420	CV1685996	single nucleotide variant	NM_001372076.1(PAX9):c.191G>T (p.Gly64Val)	Tooth agenesis, selective, 3 [RCV002260957]	pathogenic	14	36663083	36663083	Human	1	name
155738981	CV1779538	single nucleotide variant	NM_001372076.1(PAX9):c.248T>G (p.Val83Gly)	Hypodontia [RCV002302192]	uncertain significance	14	36663140	36663140	Human	3	name
156015058	CV2061561	single nucleotide variant	NM_001372076.1(PAX9):c.232G>C (p.Val78Leu)	Hypodontia [RCV002820332]	uncertain significance	14	36663124	36663124	Human	3	name
401797018	CV2740837	single nucleotide variant	NM_001372076.1(PAX9):c.247G>T (p.Val83Leu)	not provided [RCV003322001]	uncertain significance	14	36663139	36663139	Human		name
401797097	CV2741925	single nucleotide variant	NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)	Tooth agenesis, selective, 3 [RCV003324104]	pathogenic	14	36663004	36663004	Human	1	name
401797101	CV2741930	deletion	NM_001372076.1(PAX9):c.305del (p.Ile102fs)	Tooth agenesis, selective, 3 [RCV003324109]	likely pathogenic	14	36663197	36663197	Human	1	name
401797104	CV2741932	deletion	NM_001372076.1(PAX9):c.395del (p.Gly132fs)	Tooth agenesis, selective, 3 [RCV003324111]	likely pathogenic	14	36663286	36663286	Human	1	name
401798784	CV2742570	single nucleotide variant	NM_001372076.1(PAX9):c.295G>T (p.Ala99Ser)	not provided [RCV003325014]	uncertain significance	14	36663187	36663187	Human		name
405867493	CV2839329	duplication	NM_001372076.1(PAX9):c.637dup (p.Asp213fs)	Oligodontia [RCV004573145]	pathogenic	14	36666466	36666467	Human	2	name
8599551	CV28809	single nucleotide variant	NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)	Hypodontia [RCV000530457]\|PAX9-related disorder [RCV003934833]\|Tooth agenesis, selective, 3 [RCV000014780]\|not provided [RCV002054439]	pathogenic\|likely pathogenic\|uncertain significance	14	36663163	36663163	Human	5	name , trait , alternate_id
8599555	CV28814	single nucleotide variant	NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe)	Hypodontia [RCV000704798]\|Tooth agenesis, selective, 3 [RCV000014785]	pathogenic\|uncertain significance	14	36663151	36663151	Human	5	name
8599556	CV28818	single nucleotide variant	NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser)	Hypodontia [RCV003591633]\|Tooth agenesis, selective, 3 [RCV000014789]	pathogenic\|uncertain significance	14	36663043	36663043	Human	5	name
8599557	CV28820	single nucleotide variant	NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp)	Tooth agenesis, selective, 3 [RCV000014791]	pathogenic	14	36663031	36663031	Human	1	name
405273554	CV3198078	single nucleotide variant	NM_001372076.1(PAX9):c.130C>T (p.Arg44Cys)	PAX9-related disorder [RCV003901848]	uncertain significance	14	36663022	36663022	Human		name , trait , alternate_id
11648250	CV329298	single nucleotide variant	NM_001372076.1(PAX9):c.289A>C (p.Ile97Leu)	Tooth agenesis, selective, 3 [RCV000280795]	uncertain significance	14	36663181	36663181	Human	1	name
11621348	CV329327	single nucleotide variant	NM_001372076.1(PAX9):c.1020G>A (p.Ala340=)	Tooth agenesis, selective, 3 [RCV000347293]	uncertain significance	14	36676446	36676446	Human	1	name
597703539	CV3568449	single nucleotide variant	NM_001372076.1(PAX9):c.172G>A (p.Ala58Thr)	Inborn genetic diseases [RCV004956997]	uncertain significance	14	36663064	36663064	Human	1	name
597915164	CV3778975	single nucleotide variant	NM_001372076.1(PAX9):c.107G>T (p.Gly36Val)	Hypodontia [RCV005129320]	uncertain significance	14	36662999	36662999	Human	3	name
13531968	CV512103	single nucleotide variant	NM_001372076.1(PAX9):c.188C>G (p.Thr63Arg)	Inborn genetic diseases [RCV000623787]	uncertain significance	14	36663080	36663080	Human	1	name
13530598	CV512104	single nucleotide variant	NM_001372076.1(PAX9):c.217G>T (p.Gly73Cys)	Inborn genetic diseases [RCV000622623]	uncertain significance	14	36663109	36663109	Human	1	name
13613764	CV528503	single nucleotide variant	NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter)	Hypodontia [RCV000631386]	pathogenic	14	36663072	36663072	Human	3	name
25319586	CV805797	duplication	NM_001372076.1(PAX9):c.543dup (p.Ile182fs)	not provided [RCV001009017]	pathogenic	14	36663433	36663434	Human		name
42722664	CV964075	single nucleotide variant	NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln)	Tooth agenesis, selective, 3 [RCV001290409]	likely pathogenic	14	36663122	36663122	Human	1	name
126753639	CV995802	single nucleotide variant	NM_001372076.1(PAX9):c.290T>A (p.Ile97Asn)	Hypodontia [RCV001307437]	uncertain significance	14	36663182	36663182	Human	3	name
126762182	CV1031568	single nucleotide variant	NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu)	Hypodontia [RCV001340899]	uncertain significance	14	36676385	36676385	Human	3	name
126909850	CV1052990	single nucleotide variant	NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter)	Oligodontia [RCV001374732]	pathogenic	14	36663301	36663301	Human	2	name
127272429	CV1063084	duplication	NM_001372076.1(PAX9):c.72_76dup (p.Arg26fs)	Hypodontia [RCV001390465]	pathogenic	14	36662962	36662963	Human	3	name
127237847	CV1063085	single nucleotide variant	NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter)	Hypodontia [RCV001382911]	pathogenic	14	36663343	36663343	Human	3	name
127314698	CV1144579	single nucleotide variant	NM_001372076.1(PAX9):c.428A>G (p.Tyr143Cys)	Hypodontia [RCV001482311]\|not provided [RCV004704605]	likely benign	14	36663320	36663320	Human	3	name
151664398	CV1332571	single nucleotide variant	NM_001372076.1(PAX9):c.350T>G (p.Val117Gly)	Tooth agenesis, selective, 3 [RCV001829279]	uncertain significance	14	36663242	36663242	Human	1	name
151763666	CV1407559	single nucleotide variant	NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter)	Hypodontia [RCV002044559]	pathogenic	14	36663374	36663374	Human	3	name
151788422	CV1471684	duplication	NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter)	Hypodontia [RCV001972802]	pathogenic	14	36663319	36663320	Human	3	name
151815403	CV1485927	single nucleotide variant	NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter)	Hypodontia [RCV002049257]	pathogenic	14	36663312	36663312	Human	3	name
9681799	CV165743	single nucleotide variant	NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)	Tooth agenesis, selective, 3 [RCV000144943]	pathogenic\|not provided	14	36663228	36663228	Human	1	name
155645621	CV1708990	single nucleotide variant	NM_001372076.1(PAX9):c.433C>T (p.Gln145Ter)	not provided [RCV002291866]	pathogenic	14	36663325	36663325	Human		name
155932599	CV1919685	single nucleotide variant	NM_001372076.1(PAX9):c.343T>C (p.Tyr115His)	Hypodontia [RCV002615087]	uncertain significance	14	36663235	36663235	Human	3	name
156396315	CV1958999	single nucleotide variant	NM_001372076.1(PAX9):c.569G>A (p.Arg190His)	Hypodontia [RCV002584396]	uncertain significance	14	36663461	36663461	Human	3	name
156328302	CV2116230	single nucleotide variant	NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu)	Hypodontia [RCV002938217]\|Inborn genetic diseases [RCV003308342]	uncertain significance	14	36663350	36663350	Human	5	name
156018782	CV2272385	single nucleotide variant	NM_001372076.1(PAX9):c.930G>T (p.Leu310Phe)	Inborn genetic diseases [RCV002844426]	uncertain significance	14	36676356	36676356	Human	1	name
329396760	CV2455771	single nucleotide variant	NM_001372076.1(PAX9):c.709G>T (p.Ala237Ser)	Inborn genetic diseases [RCV003219709]	uncertain significance	14	36666539	36666539	Human	1	name
329356902	CV2460607	single nucleotide variant	NM_001372076.1(PAX9):c.775C>T (p.Pro259Ser)	Inborn genetic diseases [RCV003203487]\|not provided [RCV004779509]	uncertain significance	14	36676201	36676201	Human	1	name
11547444	CV254940	single nucleotide variant	NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro)	Hypodontia [RCV001513163]\|Tooth agenesis, selective, 3 [RCV000600885]\|not provided [RCV001668518]\|not specified [RCV000247763]	benign\|likely benign	14	36666548	36666548	Human	5	name
401797103	CV2741931	single nucleotide variant	NM_001372076.1(PAX9):c.365C>A (p.Ser122Tyr)	Tooth agenesis, selective, 3 [RCV003324110]	likely pathogenic	14	36663257	36663257	Human	1	name
8599550	CV28807	single nucleotide variant	NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter)	Tooth agenesis, selective, 3 [RCV000014778]	pathogenic	14	36663232	36663232	Human	1	name
405145543	CV3005931	single nucleotide variant	NM_001372076.1(PAX9):c.565C>T (p.Pro189Ser)	Hypodontia [RCV003755796]	uncertain significance	14	36663457	36663457	Human	3	name
405147061	CV3021375	single nucleotide variant	NM_001372076.1(PAX9):c.437A>G (p.His146Arg)	Hypodontia [RCV003755878]	uncertain significance	14	36663329	36663329	Human	3	name
11615520	CV329316	single nucleotide variant	NM_001372076.1(PAX9):c.524C>T (p.Thr175Met)	Hypodontia [RCV003754874]\|Tooth agenesis, selective, 3 [RCV000286437]	uncertain significance	14	36663416	36663416	Human	5	name
11620812	CV329317	single nucleotide variant	NM_001372076.1(PAX9):c.623C>G (p.Thr208Ser)	Hypodontia [RCV000533935]\|Tooth agenesis, selective, 3 [RCV000341475]\|not provided [RCV004705289]	benign\|likely benign	14	36663515	36663515	Human	5	name
11618727	CV335905	single nucleotide variant	NM_001372076.1(PAX9):c.511G>A (p.Ala171Thr)	Hypodontia [RCV000871665]\|Tooth agenesis, selective, 3 [RCV000317164]	likely benign\|uncertain significance	14	36663403	36663403	Human	5	name
407429289	CV3413611	single nucleotide variant	NM_001372076.1(PAX9):c.356C>T (p.Ser119Phe)	Tooth agenesis, selective, 3 [RCV004595020]	likely pathogenic	14	36663248	36663248	Human	1	name
407479859	CV3466709	single nucleotide variant	NM_001372076.1(PAX9):c.641G>T (p.Ser214Ile)	Inborn genetic diseases [RCV004664237]	uncertain significance	14	36666471	36666471	Human	1	name
596924817	CV3540392	single nucleotide variant	NM_001372076.1(PAX9):c.670G>T (p.Glu224Ter)	Tooth agenesis, selective, 3 [RCV004794721]	likely pathogenic	14	36666500	36666500	Human	1	name
597703523	CV3568447	single nucleotide variant	NM_001372076.1(PAX9):c.554C>G (p.Ser185Trp)	Inborn genetic diseases [RCV004956995]	uncertain significance	14	36663446	36663446	Human	1	name
597703533	CV3568448	single nucleotide variant	NM_001372076.1(PAX9):c.703G>T (p.Ala235Ser)	Inborn genetic diseases [RCV004956996]	uncertain significance	14	36666533	36666533	Human	1	name
597703545	CV3568450	single nucleotide variant	NM_001372076.1(PAX9):c.719C>T (p.Ala240Val)	Inborn genetic diseases [RCV004956998]	uncertain significance	14	36666549	36666549	Human	1	name
597886503	CV3741833	single nucleotide variant	NM_001372076.1(PAX9):c.776C>A (p.Pro259Gln)	Hypodontia [RCV005070552]	uncertain significance	14	36676202	36676202	Human	3	name
597929040	CV3783895	single nucleotide variant	NM_001372076.1(PAX9):c.335G>T (p.Cys112Phe)	Hypodontia [RCV005116375]	uncertain significance	14	36663227	36663227	Human	3	name
597929992	CV3837499	single nucleotide variant	NM_001372076.1(PAX9):c.530C>T (p.Pro177Leu)	Hypodontia [RCV005185657]	uncertain significance	14	36663422	36663422	Human	3	name
598233667	CV3893742	single nucleotide variant	NM_001372076.1(PAX9):c.317T>G (p.Leu106Arg)	Tooth agenesis, selective, 3 [RCV005256476]	uncertain significance	14	36663209	36663209	Human	1	name
598245516	CV3999111	single nucleotide variant	NM_001372076.1(PAX9):c.914C>A (p.Ala305Asp)	Inborn genetic diseases [RCV005383911]	uncertain significance	14	36676340	36676340	Human	1	name
598245526	CV3999113	single nucleotide variant	NM_001372076.1(PAX9):c.815C>G (p.Ser272Cys)	Inborn genetic diseases [RCV005383913]	uncertain significance	14	36676241	36676241	Human	1	name
598245530	CV3999114	single nucleotide variant	NM_001372076.1(PAX9):c.613C>T (p.Arg205Cys)	Inborn genetic diseases [RCV005383914]	uncertain significance	14	36663505	36663505	Human	1	name
598208940	CV4007799	single nucleotide variant	NM_001372076.1(PAX9):c.751C>A (p.Gln251Lys)	Tooth agenesis, selective, 3 [RCV005400113]	uncertain significance	14	36666581	36666581	Human	1	name
13819736	CV568867	single nucleotide variant	NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu)	Hypodontia [RCV000694512]\|not provided [RCV001555392]	uncertain significance	14	36666519	36666519	Human	3	name
14701582	CV642357	single nucleotide variant	NM_001372076.1(PAX9):c.683T>C (p.Leu228Pro)	Hypodontia [RCV000817715]	uncertain significance	14	36666513	36666513	Human	3	name
14713171	CV642358	single nucleotide variant	NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu)	Hypodontia [RCV000792474]\|Inborn genetic diseases [RCV003166094]	uncertain significance	14	36666527	36666527	Human	5	name
15154045	CV702867	single nucleotide variant	NM_001372076.1(PAX9):c.679A>C (p.Ser227Arg)	Hypodontia [RCV001441691]\|Tooth agenesis, selective, 3 [RCV005004471]	likely benign\|uncertain significance	14	36666509	36666509	Human	5	name
15101325	CV769794	single nucleotide variant	NM_001372076.1(PAX9):c.640A>G (p.Ser214Gly)	Hypodontia [RCV001449246]	likely benign	14	36666470	36666470	Human	3	name
26896890	CV841371	single nucleotide variant	NM_001372076.1(PAX9):c.930G>C (p.Leu310Phe)	Hypodontia [RCV001064939]	uncertain significance	14	36676356	36676356	Human	3	name
28872929	CV871855	single nucleotide variant	NM_001372076.1(PAX9):c.323C>T (p.Ala108Val)	Tooth agenesis, selective, 3 [RCV001114762]	uncertain significance	14	36663215	36663215	Human	1	name
28910385	CV871857	single nucleotide variant	NM_001372076.1(PAX9):c.689G>A (p.Arg230His)	Tooth agenesis, selective, 3 [RCV001109131]	uncertain significance	14	36666519	36666519	Human	1	name
28911998	CV871858	single nucleotide variant	NM_001372076.1(PAX9):c.750G>T (p.Glu250Asp)	Inborn genetic diseases [RCV003346323]\|Tooth agenesis, selective, 3 [RCV001111468]\|not provided [RCV004693675]	uncertain significance	14	36666580	36666580	Human	2	name
38490929	CV927031	single nucleotide variant	NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr)	Hypodontia [RCV001222484]	uncertain significance	14	36663238	36663238	Human	3	name
156242339	CV2283183	single nucleotide variant	NM_001372076.1(PAX9):c.1013C>T (p.Ala338Val)	Inborn genetic diseases [RCV002854320]	uncertain significance	14	36676439	36676439	Human	1	name
156084026	CV2343170	single nucleotide variant	NM_001372076.1(PAX9):c.1007T>C (p.Val336Ala)	Inborn genetic diseases [RCV002951968]	uncertain significance	14	36676433	36676433	Human	1	name
598245519	CV3999112	single nucleotide variant	NM_001372076.1(PAX9):c.1006G>C (p.Val336Leu)	Inborn genetic diseases [RCV005383912]	uncertain significance	14	36676432	36676432	Human	1	name
401797185	CV2741924	deletion	NM_001372076.1(PAX9):c.133_136del (p.Gln45fs)	Tooth agenesis, selective, 3 [RCV003324103]	likely pathogenic	14	36663023	36663026	Human	1	name
597952840	CV3776288	microsatellite	NM_001372076.1(PAX9):c.258_259del (p.Ile87fs)	Hypodontia [RCV005121416]	pathogenic	14	36663147	36663148	Human		name
597948433	CV3800958	deletion	NM_001372076.1(PAX9):c.253_259del (p.Lys85fs)	Hypodontia [RCV005135358]	pathogenic	14	36663145	36663151	Human	3	name
12893336	CV409122	duplication	NM_001372076.1(PAX9):c.114_117dup (p.Cys40fs)	not provided [RCV000478656]	pathogenic	14	36663002	36663003	Human		name
153302938	CV1689705	duplication	NM_001372076.1(PAX9):c.487_490dup (p.Ser164fs)	Tooth agenesis, selective, 3 [RCV002267694]	likely pathogenic	14	36663378	36663379	Human	1	name
156216971	CV2087217	duplication	NM_001372076.1(PAX9):c.593_596dup (p.Asp200fs)	Hypodontia [RCV002875714]	pathogenic	14	36663484	36663485	Human	3	name
401920053	CV2796344	duplication	NM_001372076.1(PAX9):c.508_511dup (p.Ala171fs)	PAX9-related disorder [RCV003402423]	likely pathogenic	14	36663397	36663398	Human		name , trait , alternate_id
12742255	CV360100	duplication	NM_001372076.1(PAX9):c.325_331dup (p.Val111fs)	not provided [RCV000413232]	pathogenic	14	36663212	36663213	Human		name
13531551	CV512105	duplication	NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs)	Inborn genetic diseases [RCV000623432]	pathogenic	14	36663354	36663355	Human	1	name
8563877	CV28815	insertion	NM_001372076.1(PAX9):c.792_793insC (p.Val265fs)	Tooth agenesis, selective, 3 [RCV000014786]	pathogenic	14	36676218	36676219	Human	1	name
151753286	CV1363810	insertion	NM_001372076.1(PAX9):c.844_845insTTGC (p.Gln282fs)	Hypodontia [RCV001872481]	uncertain significance	14	36676269	36676270	Human	3	name
38498702	CV948538	deletion	NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del)	Hypodontia [RCV001227915]	uncertain significance	14	36662990	36663007	Human	3	name
405260116	CV3190226	indel	NM_001372076.1(PAX9):c.514_516delinsCAA (p.Lys172Gln)	PAX9-related disorder [RCV003894627]	uncertain significance	14	36663406	36663408	Human		name , trait , alternate_id
127247216	CV1063086	insertion	NM_001372076.1(PAX9):c.455_456insCTACACCT (p.Ala153fs)	Partial congenital absence of teeth [RCV001384686]	pathogenic	14	36663347	36663348	Human	2	name
597896719	CV3782308	deletion	NM_001372076.1(PAX9):c.337_345del (p.Asp113_Tyr115del)	Hypodontia [RCV005126533]	uncertain significance	14	36663228	36663236	Human	3	name
598208945	CV4007800	duplication	NM_001372076.1(PAX9):c.593_598dup (p.Thr199_Asp200insValThr)	Tooth agenesis, selective, 3 [RCV005400114]	uncertain significance	14	36663481	36663482	Human	1	name
8563879	CV28817	indel	NM_001372076.1(PAX9):c.619_621delinsTACCGACCAAGGTAGGGCATCCCT (p.Ile207delinsTyrArgProArgTer)	Tooth agenesis, selective, 3 [RCV000014788]	pathogenic	14	36663511	36663513	Human		name
8563876	CV28811	indel	NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTG ... (more) TGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT (p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer)	Tooth agenesis, selective, 3 [RCV000014782]	pathogenic	14	36663068	36663074	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)

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